Diko : en:caused by mutation in the interferon induced with helicase c domain 1 gene (ifih1, 606951.0009)

en:caused by mutation in the interferon induced with helicase c domain 1 gene (ifih1, 606951.0009)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

›

umls:C4227463

Associations d'idées

[F]

›

1000

en:caused by trinucleotide repeat expansion (cag)n in the ataxin-3 gene (mjd, 607047.0001)

•

en:caused by mutation in the homolog of the mouse mpv17 gene (mpv17, 136960.0001)

•

en:caused by mutation in the scavenger receptor class f, member 2 gene (scarf2, 613619.0001)

•

en:caused by mutation in the reelin gene (reln, 600514.0003)

•

en:caused by mutation in the potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member-4 gene (kcnn4, 602754.0001)

•

en:caused by mutation in the nata catalytic subunit n-alpha-acetyltransferase-10 gene (naa10, 300013.0001)

•

en:caused by mutation in the micro rna 2861 gene (mir2861, 613405.0001)

•

en:caused by mutation in the microfibrillar-associated protein-5 gene (mfap5, 601103.0001)

•

en:caused by mutation in the interphotoreceptor matrix proteoglycan 2 gene (impg2, 607056.0001)

•

en:caused by mutation in the homolog of chlamydomonas poc1 centriolar protein-b gene (poc1b, 614784.0001)

•

en:caused by mutation in the transmembrane protease, serine 6 gene (tmprss6, 609862.0001)

•

en:caused by mutation in the dihydrolipoamide branched chain transacylase gene (dbt, 248610.0001)

•

en:caused by mutation in the collagen and calcium-binding egf domain-containing protein 1 gene (ccbe1, 612753.0001)

•

en:caused by mutation in the carnitine palmitoyltransferase ic gene (cpt1c, 608846.0001)

•

en:caused by mutation in the bmp binding endothelial regulator gene (bmper, 608699.0001)

•

en:caused by mutation in the arylhydrocarbon-interacting receptor protein-like 1 gene (aipl1, 604392.0001)

•

en:caused by mutations in the otoferlin gene (otof, 603681.0001)

•

en:caused by mutation in the zinc metalloproteinase ste24 gene (zmpste24, 606480.0003)

•

en:caused by mutation in the set-binding protein 1 gene (setbp1, 611060.0006)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0011)

•

en:caused by mutation in the transmembrane protein 126a gene (tmem126a, 612988.0001)

•

en:caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (chchd10, 615903.0004)

•

en:caused by mutation in the xpc gene (xpc, 613208.0001)

•

en:caused by mutation in the solute carrier family 35, cmp-sialic acid transporter, member 1 gene (slc35a1, 605634.0001)

•

en:caused by mutation in the myeloid/lymphoid or mixed lineage leukemia gene (mll, 159555.0001)

•

en:caused by mutation in the micro rna 96 (mir96, 611606.0001)

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 2 gene (flvcr2, 610865.0001)

•

en:caused by mutation in the desmin gene (des, 125660.0001)

•

en:caused by mutation in the collagen xi, alpha-1 polypeptide gene (col11a1, 120280.0002)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0001)

•

en:caused by mutation in the ubiquitin carboxyl-terminal esterase l1 gene (uchl1, 191342.0003)

•

en:caused by mutation in the chaperonin-containing t-complex peptide-1 subunit 5 gene (cct5, 610150.0001)

•

en:caused by mutation in the calmodulin-2 gene (calm2, 114182.0001)

•

en:caused by mutation in the cadherin 23 gene (cdh23, 605516.0005)

•

en:caused by mutation in the brca2 gene (brca2, 600185.0009)

•

en:caused by mutation in the amylo-1,6-glucosidase, 4-alpha-glucanotransferase gene (agl, 610860.0001)

•

en:caused by mutation in the abnormal spindle-like, microcephaly-associated gene (aspm, 605481.0001)

•

en:susceptibility conferred by mutation in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0018)

•

en:linked to locus at 17q12-q21.

•

en:caused by mutation in the cytochrome c1 gene (cyc1, 123980.0001)

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex 10 gene (ndufa10, 603835.0001)

•

en:caused by mutation in the kiaa1279 gene (kiaa1279, 609367.0001)

•

en:caused by mutation in the host cell factor c1 gene (hcfc1, 300019.0001)

•

en:caused by mutation in the homolog of the drosophila sprouty 2 gene (spry2, 602466.0001)

•

en:caused by mutation in the gnas complex locus, antisense transcript (gnasas, 610540.0001)

•

en:caused by mutation in the deformed epidermal autoregulatory factor 1 homolog gene (deaf1, 602635.0001)

•

en:caused by mutation in the dedicator of cytokinesis-6 gene (dock6, 614194.0001)

•

en:caused by mutation in the adenylosuccinate lyase gene (adsl, 608222.0001)

•

en:caused by mutation in the collagen, type xxvii, alpha-1 gene (col27a1, 608461.0001)

•

en:caused by mutation in the coiled-coil-helix-coiled-coil helix domain-containing protein 10 gene (chchd10, 615903.0001)

•

en:caused by mutation in the chromosome 15 open reading frame 41 gene (c15orf41, 615626.0001)

•

en:caused by mutation in the brain-derived neurotrophic factor gene (bdnf, 113505.0001)

•

en:caused by mutation in the 164-kd centrosomal protein gene (cep164, 614848.0001)

•

en:caused by mutation in gene encoding cystein-rich pdz domain-binding protein (cript, 604594.0001)

•

en:caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (cftr, 602421.0005)

•

en:caused by duplication of 1.5 to 1.8 mb on chromosome 7q11.23

•

en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

•

en:caused by mutations in the red cell pyruvate kinase gene (pkrl, 609712.0001).

•

en:caused by mutation in the aminoacylase-1 gene (acy1, 104620.0001).

•

en:caused by mutation in the anoctamin 3 gene (ano3, 610110.0001)

•

en:caused by mutation in the myosin ie gene (myo1e, 601479.0001)

•

en:caused by mutation in the apolipoprotein b gene (apob, 107730.0001)

•

en:caused by mutation in the solute carrier family 35 (udp-n-acetylglucosamine transporter), member 3 gene (slc35a3, 605632.0001)

•

en:caused by mutation in the req-like dna helicase type 4 gene (recql4, 603780.0001)

•

en:caused by mutation in the protein phosphatase-1, regulatory subunit-15b gene (ppp1r15b, 613257.0001)

•

en:caused by mutation in the phosphodiesterase 6d, cgmp-specific, rod, delta gene (pde6d, 602676.0001)

•

en:caused by mutation in the paired box homeotic gene 2 (pax2, 167409.0001)

•

en:caused by mutation in the nuclear receptor subfamily 5, group a, member-1 gene (nr5a1, 184757.0011)

•

en:caused by mutation in the nata catalytic subunit of n-alpha-acetyltransferase-10 gene (naa10, 300013.0002)

•

en:caused by mutation in the zinc finger protein 644 gene (znf644, 614159.0001)

•

en:caused by mutation in the methionine synthase reductase gene (mtrr, 602568.0001)

•

en:caused by mutation in the dihydrolipoamide dehydrogenase gene (dld, 238331.0001)

•

en:caused by mutation in the homolog of s. cerevisiae trna methyltransferase 5 (trmt5, 611023.0001)

•

en:caused by mutation in the coagulation factor ii gene (f2, 176930.0001)

•

en:caused by mutation in the dihydrolipoamide acetyltransferase gene (dlat, 608770.0001)

•

en:caused by mutation in the c1q- and tumor necrosis factor-related protein 5 gene (c1qtnf5, 608752.0001)

•

en:caused by mutation in the family with sequence similarity 111, member a, gene (fam111a, 615292.0002)

•

en:caused by mutation in the forkhead box f1 gene (foxf1, 601089.0001)

•

en:caused by mutation in the homolog of chlamydomonas dynein regulatory complex, subunit 1 gene (drc1, 615288.0001)

•

en:caused by mutation in the drosophila homolog of the mothers against decapentaplegic, 4 gene (smad4, 600993.0015)

•

en:caused by mutation in the spermatogenesis-associated protein 16 gene (spata16, 609856.0001)

•

en:caused by mutation in the recombination signal-binding protein for immunoglobulin kappa j region gene (rbpj, 147183.0001)

•

en:caused by mutation in the mediator complex subunit 17 gene (med17, 603810.0001)

•

en:caused by mutation in the lactate dehydrogenase a gene (ldha, 150000.0001)

•

en:caused by mutation in the kiaa0586 gene (kiaa0586, 610178.0001)

•

en:caused by mutation in the interleukin 7 receptor gene (il7r, 146661.0001)

•

en:caused by mutation in the fibroblast growth factor 20 gene (fgf20, 605558.0002)

•

en:caused by mutation in the f-box only protein 31 gene (fbxo31, 609102.0001)

•

en:a contiguous gene syndrome caused by deletion (1.5mb - 3.0mb) of 22q11.2

•

en:caused by mutation in the cyld gene (605018.0005)

•

en:caused by mutation in the coiled-coil domain-containing protein 8 gene (ccdc8, 614145.0001)

•

en:caused by mutation in the b9 domain-containing protein 1 gene (b9d1, 614144.0001)

•

en:caused by mutation in the alpha-2 actinin gene (actn2, 102573.0001)

•

en:caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (hpd, 609695.0005)

•

en:caused by mutations in the parathyroid hormone receptor 1 gene (pthr1, 168468.0003)

•

en:caused by mutations in the parafibromin gene (hrpt2, 607393.0001)

•

en:caused by microdeletions of 11p13

•

en:caused by fusion of rad51b (602948) and hmgic (600698) genes

•

en:susceptibility conferred by mutation in the gamma-aminobutyric acid receptor, delta gene (gabrd, 137163.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type viii, alpha subunit gene (scn8a, 600702.0001)

•

en:caused by mutation in the tubulin, beta-4a gene (tubb4a, 602662.0002)

•

en:caused by mutations in the beta-glucuronidase gene (gusb, 611499.0001)

•

en:caused by mutation in the homolog of the yeast dna replication helicase 2 gene (dna2, 601810.0001)

•

en:caused by mutations in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0002)

•

en:caused by mutation in the solute carrier family 35, member d1 gene (slc25d1, 610804.0001)

•

en:caused by mutation in the recombinase activating gene 2 (rag2, 179616.0003)

•

en:caused by mutation in the protease inhibitor 12 gene (pi12, 602445.0001).

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0001)

•

en:caused by mutation in the poly-u-binding splicing factor, 60kd gene (puf60, 604819.0001)

•

en:caused by mutation in the kiaa0568 gene (kiaa0586, 610178.0006)

•

en:caused by mutation in the iroquois homeobox protein-5 gene (irx5, 606195.0001)

•

en:caused by mutation in the ionotropic n-methyl-d-aspartate glutamate receptor subunit 2a gene (grin2a, 138253.0001)

•

en:caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2, 300005.0009).

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor 8 gene (prpf8, 607300.0001)

•

en:caused by mutation in the histidyl-trna synthetase gene (hars, 142810.0001)

•

en:caused by mutation in the hemoglobin gamma a gene (hbg1, 142200.0026)

•

en:caused by mutation in the exosome component 8 gene (exosc8, 606019.0001)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a4, 120131.0003)

•

en:caused by mutation in the cgmp-dependent regulatory protein kinase, type 1 gene (prkg1, 176894.0001)

•

en:caused by mutation in the atp synthase 6 gene (mtap6, 516060.0003)

•

en:caused by mutation in the alpha-4 laminin gene (lama4, 600133.0001)

•

en:caused by mutation in the homolog of the drosophila dicer 1 gene (dicer1, 606241.0007).

•

en:caused by mutations in the cd40 gene (tnfrsf5, 109535.0001).

•

en:caused by mutation in the solute carrier family 4, anion exchanger, member 1 gene (slc4a1, 109270.0033)

•

en:caused by mutation in the mitochondrial ribosomal protein l44 gene (mrpl44, 611849.0001)

•

en:caused by mutation in the peptidyl-trna hydrolase 2 gene (ptrh2, 608625.0001)

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, gamma gene (scnn1g, 600761.0005)

•

en:caused by complex genomic rearrangement resulting in misexpression of the paired-like homeodomain transcription factor-1 gene (pitx1, 602149)

•

en:caused by mutation in the taf4b rna polymerase ii, tata box-binding protein-associated factor, 105kd gene (taf4b, 601689.0001)

•

en:caused by mutation in the teneurin transmembrane protein 4 gene (tenm4, 610084.0001)

•

en:caused by mutation in the traf-interacting protein gene (traip, 605958.0001)

•

en:cause by mutation in the homolog of the s. cerevisiae alg2 gene (alg2, 607905.0001)

•

en:caused by mutation in the kidney chloride channel b gene (clcnkb, 602023.0001)

•

en:caused by mutation in the laminin alpha-2 chain gene (lama2, 156225.0001)

•

en:caused by a 1.37mb deletion on 4q21 encompassing 5 genes

•

en:caused by mutation in the homolog of the s. cerevisiae mitochondrial translation optimization 1 gene (mto1, 614667.0001)

•

en:caused by mutation in the homolog of c. elegans unc119 gene (unc119, 604011.0002)

•

en:caused by mutation in the forkhead box p2 gene (foxp2, 605317.0001)

•

en:caused by mutation in the filamin c gene (flnc, 102565.0003)

•

en:caused by mutation in the chromosome 10 open reading frame 2 gene (c10orf2, 606075.0016)

•

en:caused by mutation in the cd3 antigen, delta subunit gene (cd3d, 186790.0001)

•

en:caused by mutation in the barrier-to-autointegration factor-1 gene (banf1, 603811.0001)

•

en:caused by mutation in the alanine-glyoxylate aminotransferase gene (agxt, 604285.0001)

•

en:caused by mutations in the succinate dehydrogenase complex subunit c gene (sdhc, 602413.0001)

•

en:caused by mutations in the nad(p)h steroid dehydrogenase-like protein gene (nsdhl, 300275.0001)

•

en:caused by mutations in the gap junction protein, beta-6 gene (gjb6, 604418.0002)

•

en:caused by mutations in the canalicular multispecific organic anion transporter gene (abcc2, 601107.0001)

•

en:caused by mutation in the tectonic family member 3 gene (tctn3, 613847.0006)

•

en:caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (slc4a4, 603345.0001)

•

en:caused by mutation in the integrin, alpha-8 gene (itga8, 604063.0001)

•

en:caused by mutation in chromosome 6 open reading frame 221 gene (c6orf221, 611687.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0006)

•

en:caused by mutation in the zrs regulatory element located in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0018)

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (slc26a2, 606718.0002)

•

en:caused by mutation in the post-gpi attachment to proteins 1 gene (pgap1, 611655.0001)

•

en:caused by mutation in the phosphatidylinositol glycan, class a gene (piga, 311770.0011)

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0004)

•

en:caused by mutation in the p21-activated kinase 3 gene (pak3, 300142.0001)

•

en:caused by mutation in the natriuretic peptide receptor 2 gene (npr2, 108961.0008)

•

en:caused by mutation in the kinesin family member 21a gene (kif21a, 608283.0001)

•

en:caused by mutation in the sal-like 4 gene (sall4, 607343.0013)

•

en:caused by mutation in the gata zinc finger domain-containing protein-1 gene (gatad1, 614518.0001)

•

en:caused by mutation in the claudin 14 gene (cldn14, 605608.0001)

•

en:caused by mutation in the fukutin gene (fktn, 607440.0005)

•

en:caused by mutation in the beta-tubulin gene (tubb, 191130.0001)

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0008)

•

en:caused by mutation in the b homolog of s. cerevisiae sec23 gene (sec23b, 610512.0007)

•

en:caused by mutation in the codanin 1 gene (cdan1, 607465.0001)

•

en:caused by mutation in the cytochrome p450, family 4, subfamily f, polypeptide 22 gene (cyp4f22, 611495.0001)

•

en:caused by mutation in the dimethylglycine dehydrogenase gene (dmgdh, 605849.0001)

•

en:caused by mutation in the factor xiii beta subunit (f13b, 134580.0001)

•

en:caused by mutation in the fmr1 gene (fmr1, 309550.0001)

•

en:caused by mutation in the seipin gene (bscl2, 606158.0017)

•

en:caused by mutation in the platelet glycoprotein vi gene (gp6, 605546.0001)

•

en:caused by mutation in the phosphate regulating endopeptidase homolog, x-linked, gene (phex, 300550.0001)

•

en:caused by mutation in the paired-like homeobox 2b gene (phox2b, 603851.0001)

•

en:caused by mutation in the inducible costimulator gene (icos, 605448.0001)

•

en:caused by mutation in the forkhead, drosophila, homolog-like 7 gene (foxc1, 601090.0001)

•

en:caused by mutation in the fancd2/fanci-associated nuclease 1 gene (fan1, 613534.0001)

•

en:caused by mutation in the adp-ribosylation factor guanine nucleotide exchange factor 2 gene (arfgef2, 605371.0001)

•

en:caused by mutation in the delta-4-3-oxosteroid 5-beta-reductase gene (akr1d1, 604741.0001)

•

en:caused by mutation in the collagen vi, alpha-2 gene (col6a2, 120240.0011)

•

en:caused by mutation in the alpha-1d subunit of the l-type voltage-dependent calcium channel gene (cacna1d, 114206.0001)

•

en:caused by mutation in the aldehyde dehydrogenase 7 family, member a1 gene (aldh7a1, 107323.0001)

•

en:caused by mutation in the acid phosphatase 5, tartrate resistant gene (acp5, 171640.0001)

•

en:caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (slc17a5, 604322.0001)

•

en:caused by mutations in the coagulation factor viii gene (f8, 306700.0001)

•

en:caused by mutation in the spatacsin gene (spg11, 610844.0001)

•

en:caused by mutation in the solute carrier family 22 (organic cation transporter), member 5 gene (slc22a5, 603377.0001).

•

en:caused by mutation in the dynein, cytoplasmic 2, heavy chain 1 gene (dync2h1, 603297.0001)

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0002)

•

en:caused by mutation in the magnesium-dependent protein phosphatase 2c gene (ppm2c, 605993.0001).

•

en:cause by mutation in the beta-8 tubulin gene (tubb8, 616768.0001)

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0015)

•

en:caused by mutation in the tumor protein p63 gene (tp63, 603273.0001)

•

en:caused by mutation in the selenoprotein n, 1 gene (sepn1, 606210.0008)

•

en:caused by mutation in the plakophilin-2 gene (602861.0001)

•

en:caused by mutation in the opa1 gene (opa1, 605290.0011)

•

en:caused by mutation in the methylmalonyl-coa mutase gene (mut, 251000.0001)

•

en:caused by mutation in the solute carrier family 25, member 19 gene (mitochondrial thiamine pyrophosphate carrier) (slc25a19, 606521.0001)

•

en:caused by mutation in the immunoglobulin mu binding protein 2 gene (ighmbp2, 600502.0001)

•

en:caused by mutation in the homolog of the e. coli mutl 1 gene (mlh1, 120436.0003)

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0007)

•

en:caused by mutation in the collagen, type vi, alpha-3 gene (col6a3, 120250.0007)

•

en:caused by mutation in the claudin 19 (cldn19, 610036.0001)

•

en:caused by mutation in the caveolin-1 gene (cav1, 601047.0002)

•

en:caused by mutation in the twinkle gene (c10orf2, 606075.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae postmeiotic segregation increased 2 gene (pms2, 600259.0001)

•

en:caused by mutation in the otogelin-like protein gene (otogl, 614925.0001)

•

en:susceptibility conferred by mutation in the cyclin-dependent kinase-4 gene (cdk4, 123829.0001)

•

en:caused by mutation in the ubiquitin-conjugating enzyme e2a gene (ube2a, 312180.0001)

•

en:caused by mutation in the syntaxin 11 gene (stx11, 605014.0001)

•

en:caused by mutation in the runt-related transcription factor 1 gene (runx1, 151385.0001)

•

en:caused by mutation in the cyclin m4 gene (cnnm4, 607805.0001)

•

en:caused by mutation in the myotilin gene (ttid, 604103.0001)

•

en:caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor, beta (csf2rb, 138981.0001)

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0003)

•

en:caused by mutation in the cereblon gene (crbn, 609262.0001)

•

en:caused by mutation in the 3-prime repair exonuclease 1 gene (trex1, 606609.0001)

•

en:susceptibility to sle caused by mutation in the receptor for fc fragment of igg, low affinity iia gene (fcgr2a, 146790.0001)

•

en:caused by mutations in the sh2 domain protein 1a gene (sh2d1a, 300490.0001)

•

en:caused by mutation in the abhydrolase domain-containing protein 12 gene (abhd12, 613599.0001)

•

en:caused by mutation in the potassium channel, voltage-gated, subfamily h, member-1 gene (kcnh1, 603305.0005)

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0007)

•

en:susceptibility conferred by mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0030)

•

en:caused by mutation in the rho gtpase-activating protein 31 gene (arhgap31, 610911.0001)

•

en:caused by mutation in the solute carrier family 33 (acetyl-coa transporter), member 1 gene (slc33a1, 603690.0001).

•

en:caused by mutation in the l1 cell adhesion molecule gene (l1cam, 308840.0004)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (itpr1, 147265.0003)

•

en:caused by mutation in the homolog of the s. cerevisiae mediator of rna polymerase ii transcription, subunit 12 (med12, 300188.0003)

•

en:caused by mutation in the guanylate cyclase 2c gene (gucy2c, 601330.0002)

•

en:caused by mutation in the dyskerin gene (dkc1, 300126.0001)

•

en:caused by mutation in the glycyl trna synthetase gene (gars, 600287.0002)

•

en:susceptibility conferred by mutation in the dynactin 1 gene (dctn1, 601143.0002)

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 2 gene (rab3gap2, 609275.0001)

•

en:caused by mutation in the protein kinase, amp-activated, noncatalytic, gamma-2 gene (prkag2, 602743.0007)

•

en:caused by mutation in the prosaposin gene (psap, 176801.0001)

•

en:caused by mutation in the promoter of the ovo-like-2 gene (ovol2, 616441.0001)

•

en:caused by mutation in the homolog of the mouse hydrocephalus-inducing gene (hydin, 610812.0001)

•

en:a contiguous gene syndrome involving deletion of the digeorge syndrome chromosome region (dgcr) involving mutations in tup-like enhancer of split 1 (tuple1, 600237) and digeorge critical region gene 2 (dgcr2, 600594)

•

en:caused by mutation in the gamma-aminobutyric acid (gaba) a receptor, gamma-2 gene (gabrg2, 137164.0001)

•

en:caused by mutation in the fad-dependent oxidoreductase domain-containing protein 1 gene (foxred1, 613622.0001)

•

en:caused by mutation in the dna-activated protein kinase, catalytic subunit gene (prkdc, 600899.0001)

•

en:caused by mutation in the c. elegans mab21 homolog-like 2 gene (mab21l2, 604357.0001)

•

en:caused by mutation in the alpha-b crystallin gene (cryab, 123590.0006)

•

en:caused by mutation in the adamts-like protein 2 gene (adamtsl2, 612277.0001)

•

en:a contiguous gene syndrome caused by deletion of chromosome 16q22 including the cbfb gene (121360)

•

en:a contiguous gene deletion syndrome involving deletion of 1.4mb on chromosome 17q11.2

•

en:susceptibility conferred by mutation in the proopiomelanocortin gene (pomc, 176830.0001)

•

en:caused by mutation in the n-myc downstream regulated gene-1 (ndrg1, 605262.0001)

•

en:caused by mutations in the solute carrier family 16, monocarboxylic acid transporter, member 1 gene (slc16a1, 600682.0001).

•

en:caused by mutation in the glutaredoxin 5 gene (glrx5, 609588.0001)

•

en:susceptibility conferred by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0013)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0001).

•

en:caused by mutation in the plasma membrane ca(2+)-transporting atpase 3 gene (atp2b3, 300014.0001)

•

en:caused by mutation in the lipopolysaccharide-induced tumor necrosis factor-alpha factor gene (litaf, 603795.0001)

•

en:caused by mutation in the homolog of the zebrafish visual system homeobox gene 1 (vsx1, 148300.0001)

•

en:caused by mutation in the homolog of the drosophila diaphanous 1 gene (diaph1, 602121.0002)

•

en:caused by mutation in the glycine cleavage system h protein gene (gcsh, 238330.0001)

•

en:caused by mutation in the tumor protein p53 gene (tp53, 191170.0036)

•

en:caused by mutation in the glutamate-ammonia ligase gene (glul, 138290.0001)

•

en:caused by mutation in the artemis gene (artemis, 605988.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 3 gene (eif2b3, 606273.0001)

•

en:caused by mutation in the endoplasmic reticulum membrane protein complex, subunit 1 gene (emc1, 616846.0002)

•

en:caused by mutation in the early growth response-2 gene (egr2, 129010.0001)

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 114 gene (ccdc114, 615038.0001)

•

en:caused by mutation in the cd79a antigen gene (cd79a, 112205.0001)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0001)

•

en:caused by mutation in the paired box 3 gene (pax3, 606597.0001)

•

en:caused by solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 gene (slc24a1, 603617.0001)

•

en:caused by mutation in the wd repeat-containing protein 73 gene (wdr73, 616144.0001)

•

en:caused by mutation in the transmembrane and coiled-coil domains protein 1 gene (tmco1, 614123.0001)

•

en:caused by mutation in the trafficking protein particle complex, subunit 11 gene (trappc11, 614138.0001)

•

en:caused by mutation in the ret protooncogene (ret, 164761.0013)

•

en:caused by mutation in the peroxisome biogenesis factor 10 gene (pex10, 602859.0002)

•

en:caused by mutation in the cd59 antigen gene (cd59, 107271.0001)

•

en:caused by mutation in the mitochondrial glutamic acid transfer rna gene (mtte, 590025.0002)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (itpr1, 147265)

•

en:caused by mutation in the immunoglobulin superfamily member-3 gene (igsf3, 603491.0001)

•

en:caused by mutation in the epidermal growth factor gene (egfr, 131550.0007)

•

en:caused by mutation in the apolipoprotein a-i gene (apoa1, 107680.0001)

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0004)

•

en:caused by mutations in the keratin 6b gene (krt6b, 148042.0001)

•

en:caused by mutations in the senataxin gene (setx, 608465.0001)

•

en:contiguous gene deletion of between 0.6 - 4.8 mb on chromosome 15q14

•

en:caused by mutation in the alpha-2 subunit of collagen type ix gene (col9a2, 120260.0006)

•

en:caused by mutation in the alpha-1-subunit of the voltage-gated type ii sodium channel gene (scn2a, 182390.0002)

•

en:caused by mutation in the homolog of the s. cerevisiae sco2 gene (sco2, 604272.0001)

•

en:caused by mutation in the beta-1-galactosidase gene (glb1, 230500.0004)

•

en:susceptibility conferred by mutation in the forkhead box e1 gene (foxe1, 602617.0004)

•

en:caused by mutation in the testis/liver gamma-2 subunit of phosphorylase kinase gene (phkg2, 172471.0001)

•

en:caused by mutation in the phosphomevalonate kinase gene (pmvk, 607622.0001)

•

en:caused by mutation in the la ribonucleoprotein domain family, member 7 gene (larp7, 612026.0001)

•

en:caused by mutation in the k(lysine) acetyltransferase 6b gene (kat6b, 605880.0005)

•

en:caused by mutation in the homolog of the s. pombe rad21 gene (rad21, 606462.0001)

•

en:caused by mutation in the kinesin family member 14 gene (kif14, 611279.0001)

•

en:caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (mass1, 602851.0001)

•

en:caused by mutation in the fibroblast growth factor gene-14 (fgf14, 601515.0001)

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0050)

•

en:caused by mutation in the dehydrogenase e1 and transketolase domains-containing protein 1 gene (dhtkd1, 614984.0001)

•

en:caused by mutation in the ddhd domain-containing protein 1 gene (ddhd1, 614603.0001)

•

en:caused by mutation in the cytochrome c oxidase subunit i gene (mtco1, 516030.0004)

•

en:caused by mutation in the gap junction protein, beta-2 gene (gjb2, 121011.0002)

•

en:caused by mutation in the beta-3 tubulin gene (tubb3, 602661.0006)

•

en:caused by mutation in the centrosomal protein, 152kd gene (cep152, 613529.0003)

•

en:caused by mutation in the n-acylsphingosine amidohydrolase 1 gene (asah1, 613468.0001)

•

en:caused by mutation in the nicotinamide nucleotide adenylyltransferase-1 gene (nmnat1, 608700.0001)

•

en:caused by mutation in the neuraminidase 1 gene (neu1, 608272.0001)

•

en:caused by mutation in the mkks gene (mkks, 604896.0003)

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0002)

•

en:caused by mutation in the myosin va gene (myo5a, 160777)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0017)

•

en:caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2, 300005.0003)

•

en:caused by mutation in the peptidase d gene (pepd, 613230.0001)

•

en:caused by mutation in the nuclear receptor subfamily 2, group f, member 1 gene (nr2f1, 132890.0001)

•

en:caused by mutation in the protein phosphatase 2, regulatory subunit b (b56), delta gene (ppp2r5d, 601646.0001)

•

en:caused by mutation in the phospholipase a2, group vi gene (pla2g6, 603604.0002)

•

en:caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (prps1, 311850.0011)

•

en:caused by mutation in the plakoglobin gene (jup, 173325.0001)

•

en:caused by mutation in the platelet glycoprotein ib, beta polypeptide, gene (gp1bb, 138720.0001)

•

en:caused by mutation in the pr-domain containing protein-5 gene (prdm5, 614161.0001)

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase gene (plod, 153454.0001)

•

en:caused by mutation in the protein o-mannosyltransferase-1 gene (pomt1, 607423.0006)

•

en:caused by mutation in the protein o-mannosyltransferase 2 gene (pomt2, 607439.0010)

•

en:caused by mutation in the methionine adenosyltransferase 1 gene (mat1a, 610550.0001)

•

en:caused by mutation in the pr domain-containing protein 8 gene (prdm8, 616639.0001)

•

en:caused by mutation in the purinergic receptor p2x, ligand-gated ion channel, 2 gene (p2rx2, 600844.0001)

•

en:caused by mutation in the ras-associated protein rab18 gene (rab18, 602207.0001)

•

en:caused by mutation in the methionine synthase gene (mtr, 156570.0001)

•

en:caused by mutation in the l1 cell adhesion molecule gene (l1cam, 308840.0001)

•

en:caused by mutation in the hsn2 isoform of the protein kinase, lysine-deficient 1 gene (wnk1, 605232.0003)

•

en:caused by mutation in the kelch-like 3 gene (klhl3, 605775.0001)

•

en:caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (ripk4, 605706.0001)

•

en:caused by mutation in the human homolog a of the s. cerevisiae sec23 gene (sec23a, 610511.0001)

•

en:caused by mutation in the human homolog of the iron-sulfur cluster scaffold gene (iscu, 611911.0001)

•

en:caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel (hcn1, 602780.0001)

•

en:caused by mutation in the inositol monophosphatase domain-containing protein 1 gene (impad1, 614010.0001)

•

en:caused by mutation in the insulin gene (ins, 176730.0014)

•

en:caused by mutation in the integrin, alpha-2b gene (itga2b, 607759.0017)

•

en:caused by mutation in the integrin, beta-3 gene (itgb3, 173470.0001)

•

en:caused by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0001)

•

en:caused by mutation in the isoprenoid synthase domain-containing protein gene (ispd, 614631.0001)

•

en:caused by mutation in the keratin-5 gene (krt5, 148040.0009)

•

en:caused by mutation in the membrane-type frizzled-related protein gene (mfrp, 606227.0005)

•

en:caused by mutation in the keratin 86 gene (krt86, 601928.0001).

•

en:caused by mutation in the kinesin family member 22 gene (kif22, 603213.0001)

•

en:caused by mutation in the kinesin family member 5c gene (kif5c, 604593.0001)

•

en:caused by mutation in the kinesin family member 7 gene (kif7, 611254.0009)

•

en:caused by mutation in the leucine zipper transcription factor-like 1 gene (lztfl1, 606568.0001)

•

en:caused by mutation in the long-chain base subunit 1 of the serine palmitoyltransferase gene (sptlc1, 605712.0001)

•

en:caused by mutation in the mannose-p-dolichol utilization defect 1 gene (mpdu1, 604041.0001)

•

en:caused by mutation in the mannosyl-oligosaccharide glucosidase gene (mogs, 601336.0001)

•

en:caused by mutation in the melanocortin-2 receptor gene (mc2r, 607397.0001)

•

en:caused by mutation in the melanophilin gene (mlph, 606526.0001)

•

en:caused by mutation in the ras and rab interactor 2 gene (rin2, 610222.0001)

•

en:caused by mutation in the voltage-gated, type ii sodium channel, alpha subunit (scn2a, 182390.0008)

•

en:caused by mutation in the retinoblastoma-binding protein-8 gene (rbbp8, 604124.0002)

•

en:susceptibility conferred by mutation in the protection of telomeres 1 gene (pot1, 606478.0009)

•

en:caused by mutation in the voltage-gated sodium channel, type i, beta subunit gene (scn1b, 600235.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type xi, alpha subunit gene (scn11a, 604385.0001)

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0004)

•

en:caused by somatic mutation in the harvey rat sarcoma viral (v-ha-ras) oncogene homolog gene (hras, 190020.0001)

•

en:contiguous gene syndrome caused by duplication (700-kb) of chromosome 14q32

•

en:contiguous gene syndrome involving deletion of 2.63 mb on chromosome 5q12

•

en:dutch, pakistani, and moroccan families have been described

•

en:susceptibility conferred by 9-snp haplotype in malic enzyme 2 (me2, 154270.0001)

•

en:susceptibility conferred by mutation in the homolog of the mouse agouti gene (agrp, 602311.0001)

•

en:susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (nod2, 605956.0001)

•

en:susceptibility conferred by somatic mutation in the homolog of the myeloproliferative leukemia virus gene (mpl, 159530.0011)

•

en:caused by mutation in the homolog of yeast dna replication helicase-2 gene (dna2, 601810.0004)

•

en:associated with mutation in the met protooncogene (met, 164860.0008)

•

en:a contiguous gene deletion syndrome caused by deletion (5.8 mb) of chromosome 15q26-qter encompassing the igf1r gene (147370)

•

en:a contiguous gene syndrome caused by deletion (160kb to 9mb) of 22q13.3

•

en:a contiguous gene syndrome caused by mutations in the zinc finger transcription factor trps1 (trps1, 604386) and the exostosin 1 gene (ext1, 133700)

•

en:caused by a (cctg)n repeat expansion in the zinc finger protein 9 gene (znf9, 116955.0001)

•

en:caused by a deletion of 11q23

•

en:caused by a trinucleotide repeat expansion (cag)n in the ataxin 8 gene (atxn8, 613289.0001)

•

en:caused by duplication of 120-527kb on 17p13.3

•

en:caused by duplication of 294 kb to 2.7 mb including the prkaca gene on chromosome 19p13

•

en:caused by duplication of 59kb on chromosome 2q35

•

en:caused by mutations in the atp-binding cassette, subfamily b, member 7 gene (abcb7, 300135.0001).

•

en:caused by mutation in the voltage-gated potassium channel, shaw-related subfamily, member 3 gene (kcnc3, 176264.0001)

•

en:caused by mutation in the ush3a gene (ush3a, 606397.0001)

•

en:caused by mutation in the ribonuclease h2, subunit c gene (rnaseh2c, 610330.0001)

•

en:caused by mutation in the solute carrier family 33 (acetyl-coa transporter), member 1 gene (slc33a1, 603690.0002)

•

en:caused by mutation in the ribosomal protein l21 gene (rpl12, 603636.0001)

•

en:caused by mutation in the ribosomal protein s6 kinase, 90kd, polypeptide 3 gene (rps6ka3, 300075.0001)

•

en:caused by mutation in the ribosomal protein sa gene (rpsa, 150370.0001)

•

en:caused by mutation in the rpgrip1-like gene (rpgrip1l, 610937.0005).

•

en:caused by mutation in the ryanodine receptor-1 gene (ryr1, 180901.0025)

•

en:caused by mutation in the sal-like 1 gene (sall1, 602218.0001)

•

en:caused by mutation in the sbds gene (sbds, 607444.0001)

•

en:caused by mutation in the serine protease inhibitor, kazal-type-1 gene (spink1, 167790.0001)

•

en:caused by mutation in the signal transducer and activator of transcription 1 gene (stat1, 600555.0008)

•

en:caused by mutation in the sodium channel, voltage-gated, type iv, alpha subunit gene (scn4a, 603967.0018)

•

en:caused by mutation in the solute carrier family 35, member c1 gene (slc35c1, 605881.0001)

•

en:caused by mutation in the uracil-dna glycosylase gene (ung, 191525.0001)

•

en:caused by mutation in the solute carrier family 39 (zinc transporter), member 8 gene (slc39a8, 608732.0001)

•

en:caused by mutation in the solute carrier family 7, member 14 gene (slc7a14, 615720.0001)

•

en:caused by mutation in the structural maintenance of chromosomes 1a gene (smc1a, 300040.0001)

•

en:caused by mutation in the sulfite oxidase gene (suox, 606887.0001)

•

en:caused by mutation in the synaptotagmin 14 gene (syt14, 610949.0001)

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0004)

•

en:caused by mutation in the tetratricopeptide repeat domain-containing protein 8 gene (ttc8, 608132.0001)

•

en:caused by mutation in the type 1b bone morphogenetic protein receptor gene (bmpr1b, 603248.0008)

•

en:caused by mutation in the type ix, voltage-gated sodium channel, alpha subunit gene (scn9a, 603415.0008)

•

en:caused by mutation in the ubiquilin 2 gene (ubqln2, 300264.0001)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase complex assembly factor 3 gene (uqcc3, 616097.0001)

•

en:caused by mutation in the hps3 gene (hps3, 606118)

•

en:caused by mutation in the eukaryotic translation elongation factor-2 gene (eef2, 130610.0001)

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 35 gene (vps35, 601501.0001)

•

en:caused by mutation in the blk nonreceptor tyrosine kinase gene (blk, 191305.0001)

•

en:caused by mutation in the arginase gene (arg1, 207800.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily a, member 1 gene (abca1, 600046.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 6 gene (abcc6, 603234.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily d, member 1 gene (abcd1, 300371.0001)

•

en:caused by mutation in the atpase, na+/k+ transporting, alpha-3 polypeptide (atp1a3, 182350.0014)

•

en:caused by mutation in the atp synthase 6 gene (mtatp6, 516060.0001)

•

en:caused by mutation in the bbs12 gene (bbs12, 610683.0001)

•

en:caused by mutation in the bestrophin 1 gene (best1, 607854.0020)

•

en:caused by mutation in the beta-1,3-n-acetylglucosaminyltransferase gene (b3gnt1, 605581.0001)

•

en:caused by mutation in the beta-2 transforming growth factor gene (tgfb2, 190220.0001)

•

en:caused by mutation in the brca1-associated protein 1 (bap1, 603089.0001)

•

en:caused by mutation in the ankyrin repeat domain-containing protein 26 gene (ankrd26, 610855.0001)

•

en:caused by mutation in the breast cancer type 2 gene (brca2, 600185.0001)

•

en:caused by mutation in the calcium-sensing receptor gene (casr, 601199.0004)

•

en:caused by mutation in the calcium- and integrin-binding protein 2 gene (cib2, 605564.0004)

•

en:caused by mutation in the calcium channel, voltage-dependent, p/q type, alpha 1a subunit gene (cacna1a, 601011.0005)

•

en:caused by mutation in the calpain 3 gene (capn3, 114240.0001)

•

en:caused by mutation in the cardiac troponin i gene (tnni3, 191044.0009)

•

en:caused by mutation in the cd3 antigen, epsilon subunit gene (cd3e, 186830.0003)

•

en:caused by mutation in the cdgsh iron sulfur domain protein 2 gene (cisd2, 611507.0001)

•

en:caused by mutation in the centromeric protein f gene (cenpf, 600236.0001)

•

en:caused by mutation in the centrosomal protein, 63-kd gene (cep63, 614724.0001)

•

en:caused by mutation in the chloride channel 5 gene (clcn5, 300008.0007)

•

en:caused by mutation in the apolipoprotein c-ii gene (apoc2, 608083.0002)

•

en:caused by mutation in the ankyrin 3 gene (ank3, 600465.0001)

•

en:caused by mutation in the chromosome 21 open reading frame 59 gene (c21orf59, 615494.0001)

•

en:caused by mutations in the lim homeo box transcription factor 1, beta gene (lmx1b, 602575.0001)

•

en:caused by mutations in the low density lipoprotein receptor gene (ldlr, 143890.0001)

•

en:caused by a trinucleotide repeat expansion (ctg)n in the ataxin 8 opposite strand gene (atxn8os, 603680.0001)

•

en:caused by deletion in the nephrocystin gene (nphp1, 607100.0005)

•

en:caused by deletion of 3.7mb on chromosome 6q13-q14

•

en:caused by duplication of at least 325kb on 10q24

•

en:caused by duplication or triplication of a 68-kb regulatory region (xxsr) -584 to -516 kb upstream of the sry-box-9 gene (sox9, 608160.0014)

•

en:caused by imprinting defect on chromosome 14q32

•

en:caused by mutations in cartilage oligomeric matrix protein (comp, 600310.0001)

•

en:caused by mutations in the atp-binding cassette, subfamily c, member 6 gene (abcc6, 603234.0001)

•

en:caused by mutations in the emopamil-binding protein gene (ebp, 300205.0006)

•

en:caused by mutations in the recombinase activating gene 2 (rag2, 179616.0001)

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0020)

•

en:caused by mutations in the ryanodine receptor gene (ryr1, 180901.0001)

•

en:caused by mutations in treacle gene (tcof1, 154500.0001)

•

en:caused by mutation in a regulatory element upstream of the matrix metalloproteinase-19 gene (mmp19, 601807.0001)

•

en:caused by mutation in establishment of cohesion 1, s. cerevisiae, homolog of, 2 gene ( esco2, 609353.0004)

•

en:caused by mutation in glycoprotein 1b, platelet, alpha polypeptide (gp1ba, 606672.0003)

•

en:caused by mutation in the 11-beta-hydroxysteroid dehydrogenase, type ii gene (hsd11b2, 614232.0001)

•

en:caused by mutation in the 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase gene (hsd3b7, 607764.0001)

•

en:caused by mutation in the acid beta-glucosidase gene (gba, 606463.0006)

•

en:caused by mutation in the activating transcription factor-6 gene (atf6, 605537.0001)

•

en:caused by mutation in the adaptor-related protein complex 4, mu-1 subunit gene (ap4m1, 602296.0001)

•

en:caused by mutation in the alpha-subunit of the type iv voltage-gated sodium channel gene (scn4a, 603967.0003)

•

en:caused by mutation in the chromosome 19 open reading frame 12 gene (c19orf12, 614297.0001)

•

en:caused by mutation in the chromosome 6 dnase i hypersensitivity site 1 (dhs6s1, 616842.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae sco1 gene (sco1, 603644.0001)

•

en:caused by mutation in the glycogen branching enzyme gene (gbe1, 607839.0001)

•

en:caused by mutation in the ferm domain-containing protein 4a gene (frmd4a, 616305.0001)

•

en:caused by mutation in the fibrillin 1 gene (fbn1, 134797.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0008)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0001)

•

en:caused by mutation in the filamin b gene (flnb, 603381.0004)

•

en:caused by mutation in the fms-like tyrosine kinase-4 gene (flt4, 136352.0001)

•

en:caused by mutation in the frizzled 4 gene (fzd4, 604579.0001)

•

en:caused by mutation in the gamma type 1 phosphatidylinositol 4-phosphate 5-kinase gene (pip5k1c, 606102.0001)

•

en:caused by mutation in the gastric intrinsic factor gene (gif, 609342.0001).

•

en:caused by mutation in the gata-binding protein 1 gene (gata1, 305371.0006)

•

en:caused by mutation in the golgi snap receptor complex member 2 gene (gosr2, 604027.0001)

•

en:caused by mutation in the evc gene (evc, 604831.0001)

•

en:caused by mutation in the growth/differentiation factor-5 gene (gdf5, 601146.0020)

•

en:caused by mutation in the guanylate cyclase 2c gene (gucy2c, 601330.0001)

•

en:caused by mutation in the hemoglobin gamma b gene (hbg2, 142250.0026)

•

en:caused by mutation in the hepatic growth factor gene (hgf, 142409.0001)

•

en:caused by mutation in the hippocalcin gene (hpca, 142622.0001)

•

en:caused by mutation in the homeobox (h6 family) 1 gene (hmx1, 142992.0001)

•

en:caused by mutation in the homolog of mouse newborn ovary homeobox gene (nobox, 610934.0001)

•

en:caused by mutation in the homolog of the chlamydomonas radial spoke head, 3 gene (rsph3, 615876.0001)

•

en:caused by mutation in the homolog of the drosophila fat tumor suppressor gene 4 (fat4, 612411.0003)

•

en:caused by mutation in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae rad51a gene (rad51a, 179617.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 8 gene (ercc6, 609413.0009)

•

en:caused by mutation in the endoplasmic reticulum membrane-associated rna degradation protein gene (ermard, 615532.0001)

•

en:caused by mutation in the coagulation factor 2 gene (f2, 176930.0009)

•

en:caused by mutation in the coronin 1a gene (coro1a, 605000.0001)

•

en:caused by mutation in the coagulation factor ii gene (f2, 176930.0009)

•

en:caused by mutation in the coiled-coil and c2 domains-containing protein 2a gene (cc2d2a, 612013.0006)

•

en:caused by mutation in the coiled-coil domain-containing protein 22 gene (ccdc22, 300859.0001)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0009)

•

en:caused by mutation in the collagen, type xiii, alpha-1 gene (col13a1, 120350.0001)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0024)

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0001)

•

en:caused by mutation in the collagen vi, alpha-3 polypeptide gene (col6a3, 120250.0002)

•

en:caused by mutation in the complement factor h gene (cfh, 134370.0002)

•

en:caused by mutation in the complex i, subunit nd4 gene (mtnd4, 516003.0001)

•

en:caused by mutation in the cullin 4b gene (cul4b, 300304.0001)

•

en:caused by mutation in the elongation of very long chain fatty acids-like 4 gene (elovl4, 605512.0007)

•

en:caused by mutation in the cyclin-dependent kinase inhibitor 1c gene (cdkn1c, 600856.0007)

•

en:caused by mutation in the cystatin a gene (csta, 184600.0001)

•

en:caused by mutation in the cysteine-rich acidic secreted-protein gene (sparc, 182120.0001)

•

en:caused by mutation in the cytochrome b-245, beta polypeptide gene (cybb, 300481.0022)

•

en:caused by mutation in the dedicator of cytokinesis 7 gene (dock7, 615730.0001)

•

en:caused by mutation in the dihydrofolate reductase gene (dhfr, 126060.0001)

•

en:caused by mutation in the dihydroorotate dehydrogenase gene (dhodh, 126064.0001)

•

en:caused by mutation in the dj1 gene (602533.0001)

•

en:caused by mutation in the dna polymerase, epsilon gene (pole, 174762.0001)

•

en:caused by mutation in the dynamin-2 gene (dnm2, 602378.0013)

•

en:caused by mutation in the dystonin gene (dst, 113810.0002)

•

en:caused by mutations in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (chrna1, 100690.0007)

•

en:caused by mutation in the alpha-dystrobrevin gene (dtna, 601239.0001)

•

en:caused by mutations in the neuroblastoma-derived v-myc avian myelocytomatosis viral-related oncogene (mycn, 164840.0001)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory, 1 gene (pik3r1, 171833.0002)

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 (nsd1, 606681.0011)

•

en:caused by mutation in the nuclear receptor subfamily 2, group f, member 2 gene (nr2f2, 107773.0001)

•

en:caused by mutation in the nucleolar protein-3 gene (nol3, 605235.0001)

•

en:caused by mutation in the o-phosphoserine trna-selenocysteine trna synthase gene (sepsecs, 613009.0001)

•

en:caused by mutation in the ofd1 protein gene (ofd1, 300170.0001)

•

en:caused by mutation in the oligophrenin 1 gene (ophn1, 300127.0001)

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 8 gene (pnpla8, 612123.0001) creation date : john f. jackson : 6/15/1995

•

en:caused by mutation in the peroxisome biogenesis factor-14 gene (pex14, 601791.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-5 gene (pex5, 600414.0002)

•

en:caused by mutation in the phenylalanine hydroxylase gene (pah, 261600.0001)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 5 gene (pik3r5, 611317.0001)

•

en:caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (ncf1, 608512.0001)

•

en:caused by mutation in the phosphatidylinositol glycan, class m gene (pigm, 610273.0001)

•

en:caused by mutation in the phospholipase c, gamma-2 gene (plcg2, 600220.0001)

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0009)

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 1 gene (kcnq1, 192500.0001)

•

en:caused by mutation in the potassium voltage-gated channel, subfamily h, member 2 gene or human ether-a-go-go related gene (kcnh2, 152427.0001)

•

en:caused by mutation in the presenilin 2 gene (psen2, 600759.0001)

•

en:caused by mutation in the propionyl coenzyme a carboxylase, alpha polypeptide gene (pcca, 232000.0001)

•

en:caused by mutation in the proprotein convertase 1 gene (pc1, 162150.0001)

•

en:caused by mutation in the prosaposin gene (psap, 176801.0005)

•

en:caused by mutation in the protein kinase, interferon-inducible double-stranded rna-dependent activator gene (prkra, 603424.0001)

•

en:caused by mutation in the npc1 gene (npc1, 607623.0001)

•

en:caused by mutation in the neurofilament light chain gene (nefl, 162280.0003)

•

en:caused by mutation in the protein o-mannose beta-1,2-n-acetylglucosaminyltransferase gene (pomgnt1, 606822.0014)

•

en:caused by mutation in the mevalonate pyrophosphate decarboxylase gene (mvd, 603236.0001)

•

en:caused by mutation in the keratin 3, type ii gene (krt3, 148043.0001)

•

en:caused by mutation in the kinesin family member 7 gene (kif7, 611254.0001)

•

en:caused by mutation in the kit ligand gene (kitlg, 184745.0003)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0020)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0022)

•

en:caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (ltbp2, 602091.0012)

•

en:caused by mutation in the lipase h gene (liph, 607365.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0009)

•

en:caused by mutation in the makorin-3 gene (mkrn3, 603856.0001)

•

en:caused by mutation in the methyl-cpg-binding protein-2 gene (mecp2, 300005.0001)

•

en:caused by mutation in the microtubule-associated serine/threonine kinase-like gene (mastl, 608221.0001)

•

en:caused by mutation in the neuroblastoma-amplified sequence gene (nbas, 608025.0001)

•

en:caused by mutation in the mitochondrial apoptogenic protein 1 gene (apopt1, 616003.0001)

•

en:caused by mutation in the mitochondrial elongation factor g1 gene (gfm1, 606639.0001)

•

en:caused by mutation in the mitochondrial transfer rna lysine gene (mttk, 590060.0002)

•

en:caused by mutation in the mitochondrial trna-serine 2 gene (mtts2, 590085.0002)

•

en:caused by mutation in the mlc1 gene (mlc1, 605908.0001)

•

en:caused by mutation in the multiple epidermal growth factor-like domains-8 gene (megf8, 604267.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0018)

•

en:caused by mutation in the myotubularin gene (mtm1, 300415.0001).

•

en:caused by mutation in the n-acetylglutamate synthase gene (nags, 608300.0001)

•

en:caused by mutation in the nad(p)h steroid dehydrogenase-like protein (nsdhl, 300275.0007)

•

en:caused by mutation in the protein o-mannose beta-1,2-n-acetylglucosaminyltransferase 1 gene (pomgnt1, 606822.0013)

•

en:caused by mutation in the rab6-interacting golgin gene (gorab, 607893.0001)

•

en:caused by mutation in the janus kinase 3 gene (jak3, 600173.0001)

•

en:caused by mutation in the zinc finger mynd domain-containing protein 10 (zmynd10, 607070.0001)

•

en:caused by mutation in the trna-specific adenosine deaminase 3 gene (adat3, 615302.0001)

•

en:caused by mutation in the tumor necrosis factor receptor superfamily member 1a gene (tnfrsf1a, 191190.0001).

•

en:caused by mutation in the type i keratin-25 gene (krt25, 616646.0001)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase-protein complex iii subunit vii gene (uqcrq, 612080.0001)

•

en:caused by mutation in the ubiquitin-specific protease 9, x chromosome gene (usp9x, 300072.0001)

•

en:caused by mutation in the uromodulin gene (umod, 191845.0001)

•

en:caused by mutation in the vascular endothelial growth factor c gene (vegfc, 601528.0001)

•

en:caused by mutation in the wd repeat-containing protein 35 gene (wdr35, 613602.0001)

•

en:caused by mutation in the wd repeat-containing protein 81 gene (wdr81, 614218.0001)

•

en:caused by mutation in the xylosyltransferase-2 gene (xylt2, 608125.0002)

•

en:caused by somatic deletion of 1 allele of the ribosomal protein s14 gene (rps14, 130620)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 3 gene (trpv3, 607066.0001)

•

en:caused by somatic translocation or genomic rearrangement involving plag1 (603026) on 8q12

•

en:caused my mutation in the kallikrein b plasma 1 gene (klkb1, 229000.0001)

•

en:contiguous gene deletion of 12 mb encompassing 47 genes on 1p32-p31

•

en:contiguous gene deletion syndrome caused by microdeletion (43-490kb) of chromosome 11q13

•

en:features other than acd/mpv are variably present

•

en:mutation in the axis inhibitor 2 gene (axin2, 604025.0003)

•

en:susceptibility conferred by mutation in the cd46 antigen gene (cd46, 120920.0001)

•

en:susceptibility conferred by mutation in the melanocortin 2 receptor accessory protein 2 gene (mrap2, 615410.0001)

•

en:susceptibility conferred by mutation in the thrombomodulin gene (thbd, 188040.0005)

•

en:susceptibility conferred by mutation in the transforming growth factor-beta receptor, type i gene (tgfbr1, 190181.0009).

•

en:caused by mutations in the paired-like homeodomain transcription factor-2 gene (pitx2, 601542.0001)

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0001)

•

en:caused by mutation in the transforming growth factor, beta receptor ii, 70-80kd gene (tgfbr2, 190182.0008)

•

en:caused by mutation in the ranbp-type and c3hc4-type zinc finger-containing 1 gene (rbck1, 610924.0001)

•

en:caused by mutation in the solute carrier family 25, member 46 gene (slc25a46, 610826.0001)

•

en:caused by mutation in the ras-associated protein rab39b (300774.0001)

•

en:caused by mutation in the rb1 gene (rb1, 614041.0001)

•

en:caused by mutation in the receptor-associated protein of the synapse, 43-kd gene (rapsn, 601592.0001)

•

en:caused by mutation in the retina and anterior neural fold homeobox gene (rax, 601881.0001)

•

en:caused by mutation in the ret protooncogene (ret, 164761.0014)

•

en:caused by mutation in the ric-like protein without caax motif 1 gene (rit1, 609591.0001)

•

en:caused by mutation in the rna-binding motif protein 10 gene (rbm10, 300080.0001)

•

en:caused by mutation in the scy1-like 1 gene (scyl1, 607982.0001)

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, beta gene (scnn1b, 600760.0009)

•

en:caused by mutation in the sodium channel, voltage-gated, type ix, alpha subunit gene (scn9a, 603415.0018)

•

en:caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (slc34a2, 604217.0001)

•

en:caused by mutation in the tolloid-like 1 gene (tll1, 606742.0001)

•

en:caused by mutation in the st3 beta-galactoside alpha-2,3-sialyltransferase 3 gene (st3gal3, 606494.0003)

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0001)

•

en:caused by mutation in the suppression of tumorigenicity 14 gene (st14, 606797.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 gene (smarca4, 603254.0001)

•

en:caused by mutation in the synaptotagmin-2 gene (syt2, 600104.0001)

•

en:caused by mutation in the t-box 18 gene (tbx18, 604613.0001)

•

en:caused by mutation in the tachykinin receptor-3 gene (tac3r, 162332.0001)

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0014)

•

en:caused by mutation in the telethonin gene (tcap, 604488.0001).

•

en:caused by mutation in the tia1 cytotoxic granule-associated rna-binding protein gene (tia1, 603518.0001)

•

en:caused by mutation in the tissue inhibitor of metalloproteinase 3 gene (timp3, 188826.0001)

•

en:caused by mutation in the keratin 14 gene (krt14, 148066.0005)

•

en:caused by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0001)

•

en:caused by mutation in the jagged 1 gene (jag1, 601920.0001)

•

en:caused by mutation in the ccm2 gene (ccm2, 607929.0001)

•

en:caused by mutation in the beta-1,4-n-acetylgalactosaminyltransferase 1 gene (b4galnt1, 601873.0001)

•

en:caused by mutation in the beta-1 cyclic nucleotide-gated channel (cngb1, 600724.0001)

•

en:caused by mutation in the beta cardiac myosin heavy chain gene (myh7, 160760.0028)

•

en:caused by mutation in the biliverdin reductase a gene (blvra, 109750.0001)

•

en:caused by mutation in the blood vessel epicardial substance gene (bves, 604577.0001)

•

en:caused by mutation in the bone morphogenetic protein-1 gene (bmp1, 112264.0001)

•

en:caused by mutation in the calcium channel, voltage-dependent, l type, alpha 1d subunit gene (cacna1d, 114206.0002)

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0001)

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0001)

•

en:caused by mutation in the cbp/p300-interacting transactivator, with glu/asp-rich c-terminal domain, 2 gene (cited2, 602937.0001)

•

en:caused by mutation in the cd96 gene (cd96, 606037.0001)

•

en:caused by mutation in the atpase, ca++ dependent, slow-twitch, cardiac muscle-2 gene (atp2a2, 108740.0001)

•

en:caused by mutation in the chromosome 7 open reading frame 10 gene (c7orf10, 609187.0001)

•

en:caused by mutation in the cln3 gene (cln3, 607042.0001)

•

en:caused by mutation in the cln6 gene (606725.0011).

•

en:caused by mutation in the coagulation factor v gene (f5, 612309.0001)

•

en:caused by mutation in the coiled-coil and c2 domain-containing 1a gene (cc2d1a, 610055.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 174 gene (ccdc174, 616735.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 88c gene (ccdc88c, 611204.0004)

•

en:caused by mutation in the collagen, type iv, alpha-1 gene (col4a1, 120130.0001)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0005)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0026)

•

en:caused by mutation in the b-cell receptor-associated protein 31 gene (bcap31, 300398.0001)

•

en:caused by mutation in the atp/gtp-binding protein-like-1 gene (agbl1, 615496.0001)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0030)

•

en:caused by mutation in the acetylglucosaminyltransferase-like protein gene (large, 603590.0003)

•

en:caused by mutations in the parkin gene (park2, 602544.0001)

•

en:caused by mutation in the isoleucyl-trna synthetase 2 gene (iars2, 612801.0001)

•

en:caused by mutations in the peroxisomal biogenesis factor-7 gene (pex7, 601757.0001)

•

en:caused by mutations in the properdin p factor gene (pfc, 300383.0001)

•

en:caused by mutations in the t-box 5 gene (tbx5, 601620.0001)

•

en:caused by mutations in the titin immunoglobulin domain protein gene (ttid, 604103.0002).

•

en:caused by mutation in cytochrome p450, family 24, subfamily a, polypeptide-1 gene (cyp24a1, 126065.0001)

•

en:caused by mutation in the 1,4,5-triphosphate receptor, type 2 gene (itpr2, 600144.0001)

•

en:caused by mutation in the 135-kd centrosomal protein gene (cep135, 611423.0001)

•

en:caused by mutation in the 33-kd acidic cluster protein gene (acp33, 608181.0001)

•

en:caused by mutation in the acid beta glucosidase gene (gba, 606463.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0001)

•

en:caused by mutation in the actin, alpha, cardiac muscle gene (actc1, 102540.0001)

•

en:caused by mutation in the adp ribosylation factor-like 2-binding protein gene (arl2bp, 615407.0001)

•

en:caused by mutation in the aladin gene (aaas, 605378.0001)

•

en:caused by mutation in the aldolase a, fructose-bisphosphatase gene (aldoa, 103850.0001)

•

en:caused by mutation in the alpha-1a calcium channel subunit gene (cacna1a, 601011.0002)

•

en:caused by mutation in the alpha-aminoadipic semialdehyde synthase gene (aass, 605113.0001)

•

en:caused by mutation in the alpha subunit of the voltage-gated sodium channel type ix gene (scn9a, 603415.0019)

•

en:caused by mutation in the ankyrin repeat domain-containing protein 11 gene (ankrd11, 611192.0001)

•

en:caused by mutation in the anoctamin 5 gene gene (ano5, 608662.0001)

•

en:caused by mutation in the arachidonate lipoxygenase-3 gene (aloxe3, 607206.0001)

•

en:caused by mutation in the atlastin gtpase 3 gene (atl3, 609369.0001)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0001)

•

en:caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0002)

•

en:caused by mutation in the collagen ix, alpha-1 polypeptide gene (col9a1, 120210.0001)

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 140 gene (ift140, 614620.0001)

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0004)

•

en:caused by mutation in the gene encoding the mapbp-interacting protein gene (mapbpip, 610389.0001)

•

en:caused by mutation in the glutamate receptor, ionotropic, kainate 2 gene (grik2, 138244.0001)

•

en:caused by mutation in the heat-shock 27-kd protein 3 gene (hspb3, 604624.0001).

•

en:caused by mutation in the heat-shock 60kd protein 1 gene (hspd1, 118190.0001)

•

en:caused by mutation in the heparan-alpha-glucosaminide n-acetyltransferase gene (hgsnat, 610453.0001)

•

en:caused by mutation in the heparin cofactor ii gene (hcf2, 142360.0001)

•

en:caused by mutation in the hepatic lipase gene (lipc, 151670.0001)

•

en:caused by mutation in the histamine n-methyltransferase gene (hnmt, 605238.0002)

•

en:caused by mutation in the histone deacetylase 8 gene (hdac8, 300269.0001)

•

en:caused by mutation in the homolog of the drosophila fat tumor suppressor 4 gene (fat4, 612411.0001)

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606589.0001)

•

en:caused by mutation in the homolog of the drosophila hairy/enhancer of split 7 gene (hes7, 608059.0001)

•

en:caused by mutation in the homolog of the drosophila notch, 3, gene (notch3, 600276.0012)

•

en:caused by mutation in the homolog of the drosophila orthodenticle 2 gene (otx2, 600038.0006)

•

en:caused by mutation in the homolog of the drosophila period 3 gene (per3, 603427.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae bms1 ribosome assembly protein gene (bms1, 611448.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae trna splicing endonuclease 54 gene (tsen54, 608755.0001)

•

en:caused by mutation in the immediate-early response 3-interacting protein 1 (ier3ip1, 609382.0001)

•

en:caused by mutation in the immunoglobulin lambda-like polypeptide 1 gene (igll1, 146770.0001)

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0012)

•

en:caused by mutation in the insulin-like growth factor-binding protein-7 gene (igfbp7, 602867.0001)

•

en:caused by mutation in the iq motif- and sec7 domain-containing protein 2 (iqsec2, 300522.0001)

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606598.0006)

•

en:caused by mutation in the homolog of chlamydomonas intraflagellar transport 172 gene (ift172, 607386.0001)

•

en:caused by mutation in the g-protein, alpha-stimulating 1 gene (gnas1, 139320.0001)

•

en:caused by mutation in the complement component-8, beta polypeptide gene (c8b, 120960.0001)

•

en:caused by mutation in the complex i, subunit nd2 gene (mtnd2, 516001.0001)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0016)

•

en:caused by mutation in the complex i, subunit nd5 gene (mtnd5, 516005.0001)

•

en:caused by mutation in the component x gene of the pyruvate dehydrogenase complex (pdhx, 608769.0001)

•

en:caused by mutation in the cyclin m2 gene (cnnm2, 607803.0003)

•

en:caused by mutation in the cysteine- and glycine-rich protein 3 gene (csrp3, 600824.0002)

•

en:caused by mutation in the cytochrome c oxidase, subunit via, polypeptide 1 gene (cox6a1, 602072.0001)

•

en:caused by mutation in the complement factor i gene (cfi, 217030.0001)

•

en:caused by mutation in the cytochrome p450, subfamily xib, polypeptide 2 gene (cyp11b2, 124080.0001)

•

en:caused by mutation in the dishevelled-3 gene (dvl3, 601368.0001)

•

en:caused by mutation in the distal-less homeobox-4 gene (dlx4, 601911.0001)

•

en:caused by mutation in the cytochrome c oxidase subunit x gene (cox10, 602125.0001)

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 6 gene (dnajc6, 608375.0001)

•

en:caused by mutation in the euchromatic histone methyltransferase-1 gene (ehmt1, 607001.0001)

•

en:caused by mutation in the folliculin gene (flcn, 607273.0009)

•

en:caused by mutation in the dolichyl-phosphate n-acetylglucosamine phosphotransferase gene (dpagt1, 191350.0001)

•

en:caused by mutation in the filamin b gene (flnb, 603381.0006)

•

en:caused by mutation in the forkhead box p1 gene (foxp1, 605515.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 5 gene (eif2b5, 603945.0001)

•

en:caused by mutation in the ercc6-like 2 gene (ercc6l2, 615667.0001)

•

en:caused by mutation in the endothelin 1 gene (edn1, 131240.0004)

•

en:caused by mutation in the dynein axonemal heavy chain 11 gene (dnah11, 603339.0001)

•

en:caused by mutation in the downstream of tyrosine kinase 7 gene (dok7, 610285.0009)

•

en:susceptibility conferred by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0004)

•

en:caused by a 1.75 mb deletion at 15q24

•

en:susceptibility conferred by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0006).

•

en:caused by chromosomal mosaicism

•

en:caused by contiguous gene duplication of 3.2 to 19.8 mb on chromosome 17p12-p11.2

•

en:caused by deletion of 1.0-2.5mb on chromosome 17q12

•

en:caused by mutations in the excision-repair cross-complementing group 8 gene (ercc8, 609412.0001)

•

en:caused by deletion of at least 600kb in 10q26.2

•

en:caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ror2, 602337.0001)

•

en:caused by mutations in the dna polymerase gamma gene (polg, 174763.0001)

•

en:caused by mutations in the exostosin 2 gene (ext2, 133701.0001)

•

en:caused by mutations in the homolog of the drosophila notch 3 gene (notch3, 600276.0001).

•

en:caused by mutations in the holocarbyoxylase synthetase gene (hlcs, 253270.0001)

•

en:susceptibility conferred by deletion that includes the complement factor h-related 1 gene (cfhr1, 134371.0001) and complement factor h-related 3 gene (cfhr3, 605366.0001)

•

en:caused by mutation in the tumor-associated calcium signal transducer 2 gene (tacstd2, 137290.0001)

•

en:remainder of cases secondary to maternal disomy

•

en:caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0003)

•

en:caused by mutation in zinc finger mynd-containing protein-15 gene (zmynd15, 614312.0001)

•

en:caused by mutation in the x-ray repair complementing defective repair in chinese hamster cells-4 gene (xrcc4, 194363.0001)

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10b gene (wnt10b, 601906.0001)

•

en:caused by mutation in the wd repeat-containing protein 45 gene (wdr45, 300526.0001)

•

en:caused by mutation in the was gene (was, 300392.0004)

•

en:caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (ugt1, 191740.0005)

•

en:caused by mutation in the tubulin-specific chaperone e gene (tcbe, 604934.0001)

•

en:caused by mutation in the tuberin gene (tsc2, 191092.0001)

•

en:caused by mutation in the tripeptidyl peptidase 1 gene (tpp1, 607998.0004)

•

en:caused by mutation in the transforming growth factor, beta receptor i, 53kd gene (tgfbr1, 190181.0001)

•

en:caused by mutations in the ocrl1 gene (ocrl1, 300535.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily m, member 6 gene (trpm6, 607009.0001)

•

en:caused by mutations in the myosin, heavy polypeptide-9, nonmuscle gene (myh9, 160775.0010)

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0001)

•

en:caused by mutations in the vitamin d 25-hydroxylase gene (cyp2r1, 608713.0001)

•

en:caused by mutation in the beta subunit of the nonvoltage-gated sodium channel 1 gene (scnn1b, 600760.0003)

•

en:caused by mutation in the chromosome 12 open reading frame 65 gene (c12orf65, 613541.0003)

•

en:caused by mutation in the titin gene (ttn, 188840.0012)

•

en:caused by mutation in the chromosome 12 open reading frame 62 gene (c12orf62, 614478.0001)

•

en:caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (chrng, 100730.0001)

•

en:caused by mutation in the chmp family, member 2b gene (chmp2b, 609512.0003)

•

en:caused by mutation in the chloride channel 7 gene (clcn7, 602727.0004)

•

en:caused by mutation in the cd3 antigen, epsilon subunit gene (cd3e, 186830.0001)

•

en:caused by mutation in the caveolin 1 gene (cav1, 601047.0004)

•

en:caused by mutation in the camp-specific phosphodiesterase 4d gene (pde4d, 600129.0001)

•

en:caused by mutation in the camp-dependent protein kinase, regulatory, type i, alpha gene (prkar1a, 188830.0009)

•

en:caused by mutation in the calpastatin gene (cast, 114090.0001)

•

en:caused by mutation in the cadherin-related family, member 1 gene (cdhr1, 609502.0001)

•

en:caused by mutation in the c8orf38 gene (c8orf38, 612392.0001)

•

en:caused by mutation in the brca1-associated c-terminal helicase 1 gene (brip1, 605882.0001)

•

en:caused by mutation in the bbs1 gene (bbs1, 209901.0001)

•

en:caused by mutation (a391e) in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0011)

•

en:caused by mutation in the b9 domain-containing protein 2 gene (b9d2, 611951.0001)

•

en:caused by mutation in the atpase family gene 3-like 2 gene (afg3l2, 604581.0010)

•

en:caused by mutation in the atpase, class i, type 8b, member 1 gene (atp8b1, 602397.0006)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0016)

•

en:caused by mutation in the aspartyl-trna synthetase 2 gene (dars2, 610956.0001)

•

en:caused by mutation in the aristaless-like homeobox 3 gene (alx3, 606014.0001)

•

en:caused by mutation in the ankyrin repeat- and lem domain-containing protein 2 gene (ankle2, 616062.0001)

•

en:caused by mutation in the angiopoietin-like-3 gene (angptl3, 604774.0001)

•

en:caused by mutation in the alpha-a-crystallin gene (cryaa, 123580.0001)

•

en:caused by mutation in the adenosine kinase gene (adk, 102750.0001)

•

en:caused by mutation in the acyl-coa dehydrogenase-9 gene (acad9, 611103.0001)

•

en:caused by mutation in the activating signal cointegrator 1 complex, subunit 1 gene (ascc1, 614215.0002)

•

en:caused by mutation in the 3-beta-hydroxysteroid dehydrogenase-2 gene (hsd3b2, 613890.0001)

•

en:caused by mutation in the 290-kd centrosomal protein gene (cep290, 610142.0004).

•

en:caused by mutation in the tnni3-interacting kinase gene (tnni3k, 613932.0001)

•

en:caused by mutation in the microphthalmia-associated transcription factor gene (mitf, 156845.0006)

•

en:caused by mutation in the tight junction protein 2 gene (tjp2, 607709.0002)

•

en:caused by mutation in the micro rna-204 gene (mir204, 615147.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-1 gene (pex1, 602136.0001)

•

en:caused by mutation in the paraplegin gene (spg7, 602783.0001)

•

en:caused by mutation in the pantothenate kinase-2 gene (pank2, 607157.0001)

•

en:caused by mutation in the ornithine transcarbamylase gene (otc, 311250.0001)

•

en:caused by mutation in the nyctalopin gene (nyx, 300278.0001)

•

en:caused by mutation in the nucleolar protein family a, member 2 gene (nola2, 606470.0001)

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 gene (nsd1, 606681.0001)

•

en:caused by mutation in the nlr family, caspase recruitment domain-containing 4 gene (nlrc4, 606831.0001)

•

en:caused by mutation in the nephrocystin 4 gene (nphp4, 607215.0006)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) flavoprotein 1 gene (ndufv1, 161015.0001)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 2 gene (ndufa2, 602137.0001)

•

en:caused by mutation in the mitogen-activated protein kinase kinase 1 gene (map2k2, 601263.0001)

•

en:caused by mutation in the mitochondrial methionyl-trna formyltransferase gene (mtfmt, 611766.0001)

•

en:caused by mutation in the mitochondrial acetoacetyl-coa thiolase gene (acat1, 607809.0001)

•

en:caused by mutation in the mhc class ii transactivator gene (mhc2ta, 600005.0001)

•

en:caused by mutation in the phosphodiesterase 11a gene (pde11a, 604961.0001)

•

en:caused by mutation in the mesenchyme homeobox 1 gene (meox1, 600147.0001)

•

en:caused by mutation in the membrane-bound transcription factor protease, site 2 gene (mbtps2, 300294.0008)

•

en:caused by mutation in the medium-chain acyl-coa dehydrogenase (mcad) gene (acadm, 607008.0001)

•

en:caused by mutation in the mds1 and evi1 complex locus gene (mecom, 165215.0001)

•

en:caused by mutation in the male germ cell-associated kinase gene (mak, 154235.0001)

•

en:caused by mutation in the lysophosphatidic acid receptor 6 gene (p2ry5, 609239.0001)

•

en:caused by mutation in the lipase n gene (lipn, 613924.0001)

•

en:caused by mutation in the keratin 83 gene (krt83, 602765.0001)

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0014)

•

en:caused by mutation in the intestinal sodium/glucose transporter gene (slc5a1, 182380.0001)

•

en:caused by mutation in the interferon, alpha, beta, and omega, receptor 2 gene (irnar2, 602376.0002)

•

en:caused by mutation in the homolog of the s. cerevisiae sec23 gene b (sec23b, 610512.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae brf1 gene (brf1, 604902.0001)

•

en:caused by mutation in the collagen iv, alpha-1 polypeptide gene (col4a1, 120130.0003)

•

en:caused by mutation in the phosphatidylinositol glycan, class w gene (pigw, 610275.0001)

•

en:caused by mutation in the phosphoglucomutase-1 gene (pgm1, 171900.0001)

•

en:caused by mutation in the thyroid hormone receptor interactor 4 gene (trip4, 604501.0001)

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0004)

•

en:caused by mutation in the thymidine phosphorylase gene (tymp, 131222.0001)

•

en:caused by mutation in the thiopurine s-methyltransferase gene (tpmt, 187680.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain 21b gene (ttc21b, 612014.0004)

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

•

en:caused by mutation in the tectonic family, member 3 gene (tctn3, 613847.0001)

•

en:caused by mutation in the tbc1 domain family, member 7 gene (tbc1d7, 612655.0001)

•

en:caused by mutation in the t-cell immune regulator 1 gene (tcirg1, 604592.0001)

•

en:caused by mutation in the t-box 3 gene (tbx3, 601621.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily 1, member 1 gene (smarce1, 603111.0002).

•

en:caused by mutation in the succinate dehydrogenase complex subunit b gene (sdhb, 185470.0001)

•

en:caused by mutation in the stam-binding protein gene (stambp, 606247.0001)

•

en:caused by mutation in the spectrin beta-1 gene (sptb, 182870.0010)

•

en:caused by mutation in the somatic cytochrome c gene (cycs, 123970.0001)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0008)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 (slc25a13, 603859.0001)

•

en:caused by mutation in the phospholipase c, beta-1 gene (plcb1, 607120.0001)

•

en:caused by mutation in the solute carrier family 20 (phosphate transporter), member 2 gene (slc20a, 158378.0001)

•

en:caused by mutation in the slit- and ntrk-like family, member 1 gene (slitrk1, 609678.0001)

•

en:caused by mutation in the sigma nonopioid intracellular receptor 1 gene (sigmar1, 601978.0001)

•

en:caused by mutation in the shh (600725) regulatory element in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0010)

•

en:caused by mutation in the serpin peptidase inhibitor, clade a, member 6 gene (serpina6, 122500.0001)

•

en:caused by mutation in the ribosomal protein s19 gene (rps19, 603474.0001)

•

en:caused by mutation in the recq protein-like 3 gene (recql3, 604610.0001)

•

en:caused by mutation in the pyrroline-5-carboxylate reductase 2 gene (pycr2, 616406.0001)

•

en:caused by mutation in the pulmonary-associated surfactant protein b gene (sftpb, 178640.0001)

•

en:caused by mutation in the protease inhibitor 1 gene (pi, 107400.0001)

•

en:caused by mutation in the prosaposin gene (psap, 176801.0009).

•

en:caused by mutation in the prion protein gene (prnp, 176640.0002)

•

en:caused by mutation in the polo-like kinase 4 gene (plk4, 605031.0001)

•

en:caused by mutation in the plasminogen gene (plg, 173350.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 103 (ccdc103, 614677.0001)

•

en:caused by mutation in the thyroid hormone receptor interactor 11 gene (trip11, 604505.0001)

•

en:caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (cnga3, 600053.0001)

•

en:caused by mutation in the s. cerevisiae homolog of mediator of rna polymerase ii transcription, subunit 25 gene (med25, 610197.0001).

•

en:caused by mutation in the sry-box 9 gene (sox9, 114290.0001)

•

en:caused by mutation in the splicing factor 3b, subunit 4 gene (sf3b4, 605593.0001)

•

en:caused by mutation in the sorting nexin 10 gene (snx10, 614780.0001)

•

en:caused by mutation in the son of sevenless, drosophila, homolog 1 gene (sos1, 182530.0001)

•

en:caused by mutation in the sonic hedgehog gene (shh, 600725.0014)

•

en:caused by mutation in the solute carrier family 5 (sodium/glucose cotransporter), member 2 gene (slc5a2, 182381.0001)

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 gene (slc25a13, 603859.0001)

•

en:caused by mutation in the solute carrier family 19, folate transporter, member 3 gene (slc19a3, 606152.0001)

•

en:caused by mutation in the small integral membrane protein 1 gene (smim1, 615242.0001)

•

en:caused by mutation in the sigma nonopioid intracellular receptor 1 gene (sigmar1, 601978.0003)

•

en:caused by mutation in the short stature homeo box gene (shox, 312865.0002)

•

en:caused by mutation in the sas6, c. elegans, homolog of, gene (sass6, 609321.0001)

•

en:caused by mutation in the runt-related transcription factor 2 gene (runx2, 600211.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene (smarcb1, 601607.0005)

•

en:caused by mutation in the rotatin gene (rttn, 610436.0001)

•

en:caused by mutation in the ribosomal protein l26 gene (rpl26, 603704.0001)

•

en:caused by mutation in the ribonuclease h2, subunit b gene (rnaseh2b, 610326.0001)

•

en:caused by mutation in the retinoschisin gene (rs1, 300839.0001)

•

en:caused by mutation in the red cell membrane band 3 gene (slc4a1, 109270.0003)

•

en:caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (pstpip1, 606347.0001)

•

en:caused by mutation in the prolactin receptor gene (prlr, 176761.0001)

•

en:caused by mutation in the prion protein gene (prnp, 176640.0010)

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0027)

•

en:caused by mutation in the potassium channel tetramerization domain-containing protein 17 gene (kctd17, 616386.0001)

•

en:caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 2 gene (kcna2, 176262.0001)

•

en:caused by mutation in the polymerase (dna-directed), delta 1, catalytic subunit gene (pold1, 174761.0003)

•

en:caused by mutation in the pogo transposable element with znf domain gene (pogz, 614787.0001)

•

en:caused by mutation in the plectin 1 gene (plec1, 601282.0006)

•

en:caused by mutation in the subunit 1 phosphatase of the c-terminal domain of rna polymerase ii subunit a gene (ctdp1, 604927.0001)

•

en:caused by mutation in the taf2 ran polymerase ii, tata box-binding protein-associated factor, 150kd gene (taf2, 604912.0001)

•

en:caused by mutation in the phosphoserine aminotransferase 1 gene (psat1, 610936.0003)

•

en:caused by mutation in the von willebrand factor gene (vwf, 613160.0015)

•

en:susceptibility conferred by mutation in the phosphatidylinositol glycan, class t gene (pigt, 610272.0001)

•

en:susceptibility conferred by mutation in the paired box gene 4 (pax4, 167413.0022 )

•

en:susceptibility conferred by mutation in the ghrelin gene (ghrl, 605353.0001)

•

en:susceptibility conferred by mutation in the alpha-2-macroglobulin gene (a2m, 103950.0005)

•

en:conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (dstyk, 612666.0001)

•

en:caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (gnas1, 139320.0008)

•

en:caused by simultaneous homozygous mutations in both the chloride channel, kidney, a gene (clcnka, 602024.0001) and chloride channel, kidney, b gene (clcnkb, 602023.0008)

•

en:caused by postzygotic somatic mosaic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0001)

•

en:caused by mutation the mediator complex subunit 13-like gene (med13l, 608771.0004)

•

en:caused by mutation in the zinc finger protein 335 gene (znf335, 610827.0001)

•

en:caused by mutation in the zinc finger- and btb domain-containing protein 16 gene (zbtb16, 176797.0001)

•

en:caused by mutation in the zic family member 3 gene (zic3, 300265.0001)

•

en:caused by mutation in the wilms tumor 1 gene (wt1, 607102.0003).

•

en:caused by mutation in the wd repeat-containing protein 60 gene (wdr60, 615462.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type ix, alpha subunit gene (scn9a, 603415.0005)

•

en:caused by mutation in the tetratricopeptide repeat domain 37 gene (ttc37, 614589.0001)

•

en:caused by mutation in the voltage-gated, type x, alpha subunit gene (scn10a, 604427.0001)

•

en:caused by mutation in the vacuolar protein sorting 13a gene (vps13a, 605978.0001)

•

en:caused by mutation in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (maf, 177075.0001)

•

en:caused by mutation in the v-ha-ras harvey rat sarcoma viral oncogene homolog gene (hras, 190020.0017)

•

en:caused by mutation in the usherin gene (ush2a, 608400.0001).

•

en:caused by mutation in the uroporphyrinogen iii cosynthase gene (uros, 606938.0001)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase core protein ii gene (uqcr2, 191329.0001)

•

en:caused by mutation in the transmembrane protein 138 gene (tmem138, 614459.0001)

•

en:caused by mutation in the transmembrane protein-43 gene (tmem43, 612048.0001)

•

en:caused by mutation in the trafficking protein particle complex, subunit 9 gene (trappc9, 611966.0001)

•

en:caused by mutation in the traf3-interacting protein-2 gene (traf3ip2, 607043.0002)

•

en:caused by mutation in the titin gene (ttn, 188840.0004)

•

en:caused by mutation in the thyroglobulin gene (tg, 188450.0001)

•

en:caused by mutation in the thromboxane a synthase-1 gene (tbxas1, 274180.0001)

•

en:caused by mutation in the piezo-type mechanosensitive ion channel component 2 gene (piezo2, 613629.0004)

•

en:caused by mutation in the peroxisome biogenesis factor-6 gene (pex6, 601498.0010)

•

en:caused by mutation in the cytochrome b(-245) beta subunit gene (cybb, 300481.0001)

•

en:caused by mutation in the fatty acyl coa reductase 1 gene (far1, 616107.0001)

•

en:caused by mutation in the growth/differentiation factor-5 gene (gdf5, 601146.0013)

•

en:caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (grhpr, 604296.0001)

•

en:caused by mutation in the gigaxonin gene (gan, 605379.0001)

•

en:caused by mutation in the galanin gene (gal, 137035.0001)

•

en:caused by mutation in the gaip c-terminus-interacting protein 3 (gipc3, 608792.0001)

•

en:caused by mutation in the fyve and coiled-coil domain containing-1 gene (fyco1, 607182.0001)

•

en:caused by mutation in the fxyd domain-containing ion transport regulator 2 gene (fxyd2, 601814.0001)

•

en:caused by mutation in the fumarate hydratase gene (fh, 136850.0001)

•

en:caused by mutation in the filamin a gene (flna, 300017.0025)

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0028)

•

en:caused by mutation in the fibroblast growth factor receptor 1 gene (fgfr1, 136350.0030)

•

en:caused by mutation in the fibrillin 1 gene (fbn1, 134797.0055)

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0015)

•

en:caused by mutation in the ferritin heavy chain-1 gene (fth1, 134770.0001)

•

en:caused by mutation in the family with sequence similarity 126 gene, member a gene (fam126a, 610531.0001)

•

en:caused by mutation in the g protein-coupled receptor 56 gene (gpr56, 604110.0001)

•

en:caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 6 gene (ercc6, 133540.0007)

•

en:caused by mutation in the estrogen receptor-1 gene (esr1, 133430.0002)

•

en:caused by mutation in the epithelial cellular adhesion molecule gene (epcam, 185535.0001)

•

en:caused by mutation in the epidermal growth factor receptor pathway substrate 8 gene (eps8, 600206.0001)

•

en:caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (myh3, 160720.0001)

•

en:caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (dync1h1, 600112.0002)

•

en:caused by mutation in the desmoglein 1 gene (dsg1, 125670.0008)

•

en:caused by mutation in the desmocollin 2 gene (dsc2, 125645.0001)

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0005)

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0001)

•

en:caused by mutation in the delta-aminolevulinate dehydratase gene (alad, 125270.0001)

•

en:caused by mutation in the dehydrodolichyl diphosphate synthase gene (dhdds, 608172.0001)

•

en:caused by mutation in the cytochrome c oxidase assembly factor 6 gene (coa6, 614772.0001)

•

en:caused by mutation in the cytochrome c oxidase, subunit 15 gene (cox15, 603646.0001)

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type gene (gnal, 139312.0001)

•

en:caused by mutation in the h19 gene (h19, 103290.0002)

•

en:caused by mutation in the pantothenate kinase-2 gene (pank2, 607157.0011)

•

en:caused by mutation in the matrilin 3 gene (matn3, 602109.0001)

•

en:caused by mutation in the paired box gene 6 gene (pax6, 607108.0001)

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0001)

•

en:caused by mutation in the nephrocystin 4 gene (nphp4, 607215.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 3 gene (ndufs3, 603846.0001)

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex 11 gene (ndufa11, 612638.0001)

•

en:caused by mutation in the myosin xviiib gene (myo18b, 607295.0001)

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0001)

•

en:caused by mutation in the myosin va gene (myo5a, 160777.0002)

•

en:caused by mutation in the muscle phosphofructokinase gene (pfkm, 610681.0001)

•

en:caused by mutation in the mitogen-activated protein kinase kinase 1 gene (map2k1, 176872.0001)

•

en:caused by mutation in the mitochondrial genome maintenance exonuclease 1 gene (mgme1, 615076.0001)

•

en:caused by mutation in the methionine sulfoxide reductase b3 gene (msrb3, 613719.0001)

•

en:caused by mutation in the mer tyrosine kinase protooncogene (mertk, 604705.0001)

•

en:caused by mutation in the matrix gla protein gene (mgp, 154870.0001)

•

en:caused by mutation in the liver glycogen phosphorylase gene (pygl, 613741.0001)

•

en:caused by mutation in the homolog of the drosophila dachsous 1 gene (dchs1, 603057.0001)

•

en:caused by mutation in the leucine-rich repeat-containing protein 6 gene (lrrc6, 614930.0001)

•

en:caused by mutation in the keratin 9 gene (krt9, 607606.0001)

•

en:caused by mutation in the keratin 10 gene (krt10, 148080.0001)

•

en:caused by mutation in the kelch-like 10 gene (klhl10, 608778.0001)

•

en:caused by mutation in the intestinal cell kinase gene (ick, 612325.0001)

•

en:caused by mutation in the integrin, alpha-2b gene (itga2b, 607759.0002)

•

en:caused by mutation in the insulin receptor gene (insr, 147670.0037)

•

en:caused by mutation in the immunoglobulin superfamily, member 1 gene (igsf1, 300137.0001)

•

en:caused by mutation in the iduronate-2-sulfatase gene (ids, 309900.0001)

•

en:caused by mutation in the hps6 gene (hps6, 607522)

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 37 gene (vps37a, 609927.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae minichromosome maintenance 4 gene (mcm4, 602638.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae coq9 gene (coq9, 612837.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae alg11 gene (alg11, 613666.0001)

•

en:caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (stra6, 610745.0007)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9089730 • caches: c1=6 c2=1002 c3=1

+/-

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]