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Entry | Name | Description | Category | Pathway | Gene |
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H00383 | Arthropod-borne viral fever | ... and transmitted by mosquitoes, other insects, mites and ticks. Arboviruses are zoonotic viruses and actually consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. | Viral infectious disease | ||
H00404 |
Erythema infectiosum Fifth disease |
... malaise in immunocompetent children. Parvovirus B 19 also causes a wide range of clinical complications, including thrombocytopenia and neurological manifestations in immunocompromised patients and intrauterine ... | Viral infectious disease | ||
H00407 | Peroxisomal beta-oxidation enzyme deficiency | ... mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein ... | Inherited metabolic disorder |
ACOX1 [HSA:51] [KO:K00232] HSD17B4 [HSA:3295] [KO:K12405] AMACR [HSA:23600] [KO:K01796] SCP2 [HSA:6342] [KO:K08764] |
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H00408 | Type 1 diabetes mellitus | ... insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that ... | Metabolic disease; Immune system disease; Endocrine disease | hsa04940 Type I diabetes mellitus |
(T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
H00413 |
Hepatitis C Hepatitis C virus (HCV) infection |
... family of +ssRNA viruses. HCV infection often becomes chronic and can lead to degenerative liver diseases including fibrosis and cirrhosis. Some of these may eventually lead to hepatocellular carcinoma. | Viral infectious disease | hsa05160 Hepatitis C |
CCR5 (resistance) [HSA:1234] [KO:K04180] IFNG (response to therapy) [HSA:3458] [KO:K04687] IFNL3 (response to therapy) [HSA:282617] [KO:K22669] PTPRC (susceptibility) [HSA:5788] [KO:K06478] |
H00417 | Alstrom syndrome | ... hypertriglyceridemia. A wide range of clinical variability is observed among individuals with AS, including among sibs. ALMS1 is the only gene currently known to be associated with AS. However, it is not ... | Congenital malformation | ALMS1 [HSA:7840] [KO:K16741] | |
H00421 | Mucopolysaccharidosis | ... as well as elevated metabolite levels in urine. The MPS diseases share many clinical features that include organomegaly, dysostosis multiplex, decreased growth, and recurrent infections. Most of MPS diseases ... | Inherited metabolic disorder, Lysosomal disease |
(MPS1) IDUA [HSA:3425] [KO:K01217] (MPS2) IDS [HSA:3423] [KO:K01136] (MPS3A) SGSH [HSA:6448] [KO:K01565] (MPS3B) NAGLU [HSA:4669] [KO:K01205] (MPS3C) HGSNAT [HSA:138050] [KO:K10532] (MPS3D) GNS [HSA:2799] [KO:K01137] (MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] (MPS6) ARSB [HSA:411] [KO:K01135] (MPS7) GUSB [HSA:2990] [KO:K01195] (MPS9) HYAL1 [HSA:3373] [KO:K01197] (MPS10) ARSK [HSA:153642] [KO:K12376] |
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H00424 | Defects in the degradation of sphingomyelin | ... in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by deficient ... | Inherited metabolic disorder, Lysosomal disease |
(NPD) SMPD1 [HSA:6609] [KO:K12350] (Farber) ASAH1 [HSA:427] [KO:K12348] |
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H00428 | Distal renal tubular acidosis (RTA type 1) | ... ion transporters of the acid-secreting Type A intercalated cell of the renal collecting duct. These include the AE1 Cl-/HCO3- exchanger of the basolateral membrane and at least two subunits of the apical ... | Urinary system disease |
(DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573] (DRTA2) ATP6V1B1 [HSA:525] [KO:K02147] (DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154] |
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H00433 | Holt-Oram syndrome | ... All patients with HOS have abnormal carpal bones and about 85% to 95% develop cardiac malformation including atrial septal defect and ventricular septal defect. The disease is caused by mutations of the ... | Congenital malformation | TBX5 [HSA:6910] [KO:K10179] | |
H00436 | Osteopetrosis | ... reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with ... | Congenital malformation |
(OPTA1) LRP5 [HSA:4041] [KO:K03068] (OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016] (OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282] (OPTB1) TCIRG1 [HSA:10312] [KO:K02154] (OPTB2) TNFSF11 [HSA:8600] [KO:K05473] (OPTB3) CA2 [HSA:760] [KO:K18245] (OPTB5) OSTM1 [HSA:28962] [KO:K23863] (OPTB7) TNFRSF11A [HSA:8792] [KO:K05147] (OPTB8) SNX10 [HSA:29887] [KO:K17924] (OPTB9) SLC4A2 [HSA:6522] [KO:K13855] |
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H00440 | Rett syndrome | Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical ... | Nervous system disease |
MECP2 [HSA:4204] [KO:K11588] FOXG1 [HSA:2290] [KO:K09385] |
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H00457 | Primary hypertrophic osteoarthropathy | ... hypertrophic osteoarthropathy (PHO) is a familial disorder with delayed cranial suture closure, digital clubbing, arthropathy, acro-osteolysis, periostosis, and pachydermia. Mutations in HPGD gene and SLCO2A1 ... | Musculoskeletal disease |
HPGD [HSA:3248] [KO:K00069] SLCO2A1 [HSA:6578] [KO:K14345] |
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H00465 | Fragile X syndrome | ... anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at ... | Chromosomal abnormality | FMR1 [HSA:2332] [KO:K15516] | |
H00473 | Mitochondrial complex I deficiency | ... giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease. | Inherited metabolic disorder, Mitochondrial disease |
(MC1DN1) NDUFS4 [HSA:4724] [KO:K03937] (MC1DN2) NDUFS8 [HSA:4728] [KO:K03941] (MC1DN3) NDUFS7 [HSA:374291] [KO:K03940] (MC1DN4) NDUFV1 [HSA:4723] [KO:K03942] (MC1DN5) NDUFS1 [HSA:4719] [KO:K03934] (MC1DN6) NDUFS2 [HSA:4720] [KO:K03935] (MC1DN7) NDUFV2 [HSA:4729] [KO:K03943] (MC1DN8) NDUFS3 [HSA:4722] [KO:K03936] (MC1DN9) NDUFS6 [HSA:4726] [KO:K03939] (MC1DN10) NDUFAF2 [HSA:91942] [KO:K18160] (MC1DN11) NDUFAF1 [HSA:51103] [KO:K18159] (MC1DN12) NDUFA1 [HSA:4694] [KO:K03945] (MC1DN13) NDUFA2 [HSA:4695] [KO:K03946] (MC1DN14) NDUFA11 [HSA:126328] [KO:K03956] (MC1DN15) NDUFAF4 [HSA:29078] [KO:K18161] (MC1DN16) NDUFAF5 [HSA:79133] [KO:K18162] (MC1DN17) NDUFAF6 [HSA:137682] [KO:K18163] (MC1DN18) NDUFAF3 [HSA:25915] [KO:K09008] (MC1DN19) FOXRED1 [HSA:55572] [KO:K18166] (MC1DN20) ACAD9 [HSA:28976] [KO:K15980] (MC1DN21) NUBPL [HSA:80224] [KO:K03593] (MC1DN22) NDUFA10 [HSA:4705] [KO:K03954] (MC1DN23) NDUFA12 [HSA:55967] [KO:K11352] (MC1DN24) NDUFB9 [HSA:4715] [KO:K03965] (MC1DN25) NDUFB3 [HSA:4709] [KO:K03959] (MC1DN26) NDUFA9 [HSA:4704] [KO:K03953] (MC1DN27) MTFMT [HSA:123263] [KO:K00604] (MC1DN28) NDUFA13 [HSA:51079] [KO:K11353] (MC1DN29) TMEM126B [HSA:55863] [KO:K18165] (MC1DN30) NDUFB11 [HSA:54539] [KO:K11351] (MC1DN31) TIMMDC1 [HSA:51300] [KO:K23505] (MC1DN32) NDUFB8 [HSA:4714] [KO:K03964] (MC1DN33) NDUFA6 [HSA:4700] [KO:K03950] (MC1DN34) NDUFAF8 [HSA:284184] [KO:K24726] (MC1DN35) NDUFB10 [HSA:4716] [KO:K03966] (MC1DN36) NDUFC2 [HSA:4718] [KO:K03968] (MC1DN37) NDUFA8 [HSA:4702] [KO:K03952] (MC1DN39) NDUFB7 [HSA:4713] [KO:K03963] ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND3 [HSA:4537] [KO:K03880] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] |
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H00478 | Prader-Willi syndrome | ... behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency. | Chromosomal abnormality |
NDN [HSA:4692] [KO:K19482] SNRPN [HSA:6638] [KO:K11100] NPAP1 [HSA:23742] [KO:K26564] |
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H00486 | Sclerosteosis | ... intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This disease is due to loss-of-function mutations in the SOST gene ... | Congenital malformation |
(SOST1) SOST [HSA:50964] [KO:K16834] (SOST2) LRP4 [HSA:4038] [KO:K20051] |
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H00488 |
MCAD deficiency Medium-chain acyl-CoA dehydrogenase deficiency ACADM deficiency |
... mitochondrial beta-oxidation and is potentially fatal. The clinical manifestations are diverse, but usually they include fasting induced non-ketotic hypoglycemia with lethargy which may develop into coma. | Inherited metabolic disorder, Mitochondrial disease | ACADM [HSA:34] [KO:K00249] | |
H00515 | Atelosteogenesis type II | ... neonatally lethal chondrodysplasia, characterized by severely shortened limbs, small chest, scoliosis, clubfoot, abducted thumbs and great toes, and cleft palate. AO2 is an autosomal recessive disorder caused ... | Congenital malformation | DTDST [HSA:1836] [KO:K14701] | |
H00523 | Noonan syndrome and related disorders | Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... | Congenital malformation |
(NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293] (NS3/CFC2) KRAS [HSA:3845] [KO:K07827] (NS4) SOS1 [HSA:6654] [KO:K03099] (NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366] (NS6) NRAS [HSA:4893] [KO:K07828] (NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365] (NS8) RIT1 [HSA:6016] [KO:K07832] (NS9) SOS2 [HSA:6655] [KO:K03099] (NS10) LZTR1 [HSA:8216] [KO:K23330] (CFC3) MAP2K1 [HSA:5604] [KO:K04368] (CFC4) MAP2K2 [HSA:5605] [KO:K04369] (CS) HRAS [HSA:3265] [KO:K02833] (NFNS) NF1 [HSA:4763] [KO:K08052] (NSLH1) SHOC2 [HSA:8036] [KO:K19613] (NSLH2) PPP1CB [HSA:5500] [KO:K06269] (CBL) CBL [HSA:867] [KO:K04707] |
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H00528 | Frontonasal dysplasia | ... rare developmental field defect with separation or clefting of the central portion of the face. Its basic characteristics include hypertelorism, a broad nose, or complete midline splitting of the nose. | Congenital malformation |
(FND1) ALX3 [HSA:257] [KO:K09323] (FND2) ALX4 [HSA:60529] [KO:K09451] (FND3) ALX1 [HSA:8092] [KO:K09334] |
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H00529 | Cranioectodermal dysplasia | ... ectoderm-derived structures with typical craniofacial appearances, skeletal deformities and tubulointerstitial nephritis. The craniofacial features include dolichocephaly, sagittal craniosynostosis, and hypodontia. | Congenital malformation |
(CED1) IFT122 [HSA:55764] [KO:K19656] (CED2) WDR35 [HSA:57539] [KO:K19674] (CED3) IFT43 [HSA:112752] [KO:K19675] (CED4) WDR19 [HSA:57728] [KO:K19671] |
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H00531 | Venous malformations | ... will grow with age, infiltrating normal structures. They can give rise to functional disabilities, including obstruction to airway and swallowing difficulties. Also, they can cause visual or auditory disturbance ... | Congenital malformation |
(sporadic, cutaneomucosal) TIE2 [HSA:7010] [KO:K05121] (glomuvenous) GLMN [HSA:11146] [KO:K23345] |
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H00537 | Nephronophthisis | Nephronophthisis (NPH) is an inherited disorder characterized by many features including irregular tubular basement membrane, tubular cyst formation, and interstitial cell infiltration with fibrosis. The ... | Congenital malformation |
(NPHP1) NPHP1 [HSA:4867] [KO:K19657] (NPHP2) INVS [HSA:27130] [KO:K19626] (NPHP3) NPHP3 [HSA:27031] [KO:K19360] (NPHP4) NPHP4 [HSA:261734] [KO:K16478] (NPHP5) IQCB1 [HSA:9657] [KO:K16774] (NPHP6) CEP290 [HSA:80184] [KO:K16533] (NPHP7) GLIS2 [HSA:84662] [KO:K09233] (NPHP9) NEK8 [HSA:284086] [KO:K20877] (NPHP10) SDCCAG8 [HSA:10806] [KO:K16488] (NPHP11) TMEM67 [HSA:91147] [KO:K19348] (NPHP12) TTC21B [HSA:79809] [KO:K19673] (NPHP13) WDR19 [HSA:57728] [KO:K19671] (NPHP14) ZNF423 [HSA:23090] [KO:K22870] (NPHP15) CEP164 [HSA:22897] [KO:K16462] (NPHP16) ANKS6 [HSA:203286] [KO:K21415] (NPHP18) CEP83 [HSA:51134] [KO:K16754] (NPHP19) DCDC2 [HSA:51473] [KO:K23405] (NPHP20) MAPKBP1 [HSA:23005] [KO:K21763] (NPHPL1) XPNPEP3 [HSA:63929] [KO:K01262] (NPHPL2) SLC41A1 [HSA:254428] [KO:K15122] |
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H00551 | Alagille syndrome | ... multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals ... | Congenital malformation |
(ALGS1) JAG1 [HSA:182] [KO:K06052] (ALGS2) NOTCH2 [HSA:4853] [KO:K20994] |
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H00557 | Cutis laxa | ... skin due to reduced elastic fibers in the dermis. The phenotype of autosomal recessive cutis laxa II includes abnormal growth, developmental delay, and associated skeletal abnormalities. Autosomal recessive ... | Congenital malformation |
(ADCL1) ELN [HSA:2006] [KO:K14211] (ADCL2/ARCL1A) FBLN5 [HSA:10516] [KO:K17340] (ADCL3/ARCL3A) ALDH18A1 [HSA:5832] [KO:K12657] (ARCL1B) EFEMP2 [HSA:30008] [KO:K19866] (ARCL1C) LTBP4 [HSA:8425] [KO:K08023] (ARCL1D) EFEMP1 [HSA:2202] [KO:K18262] (ARCL2A/WSS) ATP6V0A2 [HSA:23545] [KO:K02154] (ARCL2B/ARCL3B) PYCR1 [HSA:5831] [KO:K00286] (ARCL2C) ATP6V1E1 [HSA:529] [KO:K02150] (ARCL2D) ATP6V1A [HSA:523] [KO:K02145] (ARCL2E) LTBP1 [HSA:4052] [KO:K19559] |
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H00561 |
Brachydactyly-mental retardation syndrome Chromosome 2q37 deletion syndrome |
... osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions ... | Chromosomal abnormality | HDAC4 [HSA:9759] [KO:K11406] | |
H00568 | Myotonic dystrophy | ... and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development ... | Nervous system disease; Musculoskeletal disease |
(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
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H00570 | Kabuki syndrome | ... eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital ... | Congenital malformation |
(KABUK1) KMT2D [HSA:8085] [KO:K09187] (KABUK2) KDM6A [HSA:7403] [KO:K11447] |
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H00571 | Johanson-Blizzard syndrome | ... fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature. Nasal wing hypoplasia ... | Congenital malformation | UBR1 [HSA:197131] [KO:K10625] | |
H00573 | Townes-Brocks syndrome | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ... | Congenital malformation |
(TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154] |
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H00577 | Symptomatic generalized epilepsies | ... are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures ... | Nervous system disease |
(RMFSL) BRAT1 [HSA:221927] [KO:K23112] (EPILX) SYN1 [HSA:6853] [KO:K19941] (EPILX2) GABRA3 [HSA:2556] [KO:K05175] |
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H00579 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) | ... is linked to the missense mutations in the COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and ... | Congenital malformation | COL4A1 [HSA:1282] [KO:K06237] | |
H00581 | Alport syndrome | ... disease associated with deafness which starts during the first decade of life, and ocular lesions including anterior lenticonus. Autosomal recessive Alport syndrome is usually severe, showing progressive ... | Congenital malformation |
(ATS1) COL4A5 [HSA:1287] [KO:K06237] (ATS2) COL4A4 [HSA:1286] [KO:K06237] (ATS3A_3B) COL4A3 [HSA:1285] [KO:K06237] |
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H00589 | Familial exudative vitreoretinopathy | ... lens. Mutations in NDP, FZD4, and LRP5 have been reported to be responsible for ophthalmic diseases including Norrie disease, FEVR, and osteoporosis pseudoglioma syndrome. The proteins encoded by these genes ... | Nervous system disease |
(EVR1) FZD4 [HSA:8322] [KO:K02354] (EVR2) NDP [HSA:4693] [KO:K25688] (EVR4) LRP5 [HSA:4041] [KO:K03068] (EVR5) TSPAN12 [HSA:23554] [KO:K17355] (EVR6) ZNF408 [HSA:79797] [KO:K24372] (EVR7) CTNNB1 [HSA:1499] [KO:K02105] |
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H00590 | Congenital muscular dystrophies (CMD/MDC) | ... structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative ... | Nervous system disease; Musculoskeletal disease |
(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583] (LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641] (MDCDC) TRIP4 [HSA:9325] [KO:K23398] (MDCMC) CHKB [HSA:1120] [KO:K14156] (MDCCAID) INPP5K [HSA:51763] [KO:K24222] (MDRP) BET1 [HSA:10282] [KO:K08504] |
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H00595 | Myofibrillar myopathies | ... identified to date are involved in maintaining the structural integrity of the Z-disk. The pathology includes accumulations of these proteins irrespective of primary gene defect, suggesting that these share ... | Nervous system disease; Musculoskeletal disease |
(MFM1) DES [HSA:1674] [KO:K07610] (MFM2) CRYAB [HSA:1410] [KO:K09542] (MFM3) MYOT [HSA:9499] [KO:K19875] (MFM4) LDB3 [HSA:11155] [KO:K19867] (MFM5) FLNC [HSA:2318] [KO:K27393] (MFM6) BAG3 [HSA:9531] [KO:K09557] (MFM7) KY [HSA:339855] [KO:K24456] (MFM8) PYROXD1 [HSA:79912] [KO:K24426] (MFM9) TTN [HSA:7273] [KO:K12567] (MFM10) SVIL [HSA:6840] [KO:K10369] (MFM11) UNC45B [HSA:146862] [KO:K21991] (MFM12) MYL2 [HSA:4633] [KO:K10351] |
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H00596 |
Nonaka myopathy (NM) Nonaka distal myopathy Hereditary inclusion body myopathy (HIBM) |
Nonaka myopathy, also known as hereditary inclusion body myopathy (HIBM) is an adult onset slowly progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine ... | Nervous system disease; Musculoskeletal disease | GNE [HSA:10020] [KO:K12409] | |
H00605 | Deafness, autosomal recessive | ... hearing loss. The autosomal-recessive forms of deafness are generally the most severe and are almost exclusively caused by cochlear defects (sensorineural deafness), in contrast to the syndromic forms of ... | Nervous system disease |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] [KO:K27624] (DFNB125) GAS2 [HSA:2620] [KO:K24627] |
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H00611 | Popliteal pterygium syndrome (PPS) | ... autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing popliteal connective tissue, syndactyly ... | Congenital malformation | IRF6 [HSA:3664] [KO:K10154] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |