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Entry | Name | Description | Category | Pathway | Gene |
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H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
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H00015 | Malignant pleural mesothelioma | ... 13q, 15q, and 22q. Furthermore, TSGs within two of these regions, i.e., p16/CDKN2A-p14ARF at 9p21 and NF2 at 22q12, are frequently altered in MMs. Mutations of the p53 gene (TP53) are occasionally observed ... | Cancer |
p53 (inactivation) [HSA:7157] [KO:K04451] p16/CDKN2A (deletion) [HSA:1029] [KO:K06621] p15/CDKN2B (deletion) [HSA:1030] [KO:K04685] NF2 (mutation) [HSA:4771] [KO:K16684] PDGF-A (overexpression) [HSA:5154] [KO:K04359] PDGF-B (overexpression) [HSA:5155] [KO:K17386] IGF-1 (expression) [HSA:3479] [KO:K05459] IGF-R1 (expression) [HSA:3480] [KO:K05087] |
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H00048 |
Hepatocellular carcinoma Liver cancer |
Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol ... | Cancer | hsa05225 Hepatocellular carcinoma |
TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564] |
H00057 | Parkinson disease | Parkinson disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Both environmental ... | Neurodegenerative disease | hsa05012 Parkinson disease |
(PARK1/PARK4) SNCA (duplication, triplication) [HSA:6622] [KO:K04528] (PARK2) PRKN [HSA:5071] [KO:K04556] (PARK5) UCHL1 [HSA:7345] [KO:K05611] (PARK6) PINK1 [HSA:65018] [KO:K05688] (PARK7) PARK7 [HSA:11315] [KO:K05687] (PARK8) LRRK2 [HSA:120892] [KO:K08844] (PARK9) ATP13A2 [HSA:23400] [KO:K13526] (PARK11) GIGYF2 [HSA:26058] [KO:K18730] (PARK13) HTRA2 [HSA:27429] [KO:K08669] (PARK14) PLA2G6 [HSA:8398] [KO:K16343] (PARK15) FBXO7 [HSA:25793] [KO:K10293] (PARK17) VPS35 [HSA:55737] [KO:K18468] (PARK18) EIF4G1 [HSA:1981] [KO:K03260] (PARK19) DNAJC6 [HSA:9829] [KO:K09526] (PARK22) CHCHD2 [HSA:51142] [KO:K22758] (PARK23) VPS13C [HSA:54832] [KO:K19525] (PARK24) PSAP [HSA:5660] [KO:K12382] (PARK25) PTPA [HSA:5524] [KO:K17605] (PARK26) RAB32 [HSA:10981] [KO:K07918] (IDLDP) NR4A2 [HSA:4929] [KO:K08558] MAPT [HSA:4137] [KO:K04380] |
H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] (SCA51) THAP11 [HSA:57215] [KO:K23211] |
H00088 | Common variable immunodeficiency | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | Immune system disease |
(CVID1) ICOS [HSA:29851] [KO:K06713] (CVID2) TNFRSF13B [HSA:23495] [KO:K05150] (CVID3) CD19 [HSA:930] [KO:K06465] (CVID4) TNFRSF13C [HSA:115650] [KO:K05151] (CVID5) MS4A1 [HSA:931] [KO:K06466] (CVID6) CD81 [HSA:975] [KO:K06508] (CVID7) CR2 [HSA:1380] [KO:K04012] (CVID8) LRBA [HSA:987] [KO:K24181] (CVID10) NFKB2 [HSA:4791] [KO:K04469] (CVID11) IL21 [HSA:59067] [KO:K05434] (CVID12) NFKB1 [HSA:4790] [KO:K02580] (CVID13) IKZF1 [HSA:10320] [KO:K09220] (CVID14) IRF2BP2 [HSA:359948] [KO:K27448] (CVID15) SEC61A1 [HSA:29927] [KO:K10956] |
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H00098 | Chronic granulomatous disease | Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals ... | Primary immunodeficiency |
(CGDX) CYBB [HSA:1536] [KO:K21421] (CGD1) NCF1 [HSA:653361] [KO:K08011] (CGD3) NCF2 [HSA:4688] [KO:K08010] (CGD3) NCF4 [HSA:4689] [KO:K08012] (CGD4) CYBA [HSA:1535] [KO:K08009] (CGD5) CYBC1 [HSA:79415] [KO:K25863] |
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H00214 | Hypophosphatemic rickets | ... in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate ... | Inherited metabolic disorder |
(XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
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H00223 |
Inherited thrombophilia Thrombophilia due to thrombin defect (THPH) |
Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation. | Hematologic disease |
(THPH1) F2 [HSA:2147] [KO:K01313] (THPH2) F5 [HSA:2153] [KO:K03902] (THPH3/4) PROC [HSA:5624] [KO:K01344] (THPH5/6) PROS1 [HSA:5627] [KO:K03908] (THPH7) SERPINC1 [HSA:462] [KO:K03911] (THPH8) F9 [HSA:2158] [KO:K01321] (THPH10) SERPIND1 [HSA:3053] [KO:K03912] (THPH11) HRG [HSA:3273] [KO:K23410] (THPH12) THBD [HSA:7056] [KO:K03907] (THPH13) F8 [HSA:2157] [KO:K03899] FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905] |
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H00264 |
Charcot-Marie-Tooth disease Hereditary motor and sensory neuropathy |
Charcot-Marie-Tooth (CMT) disease, also called hereditary motor and sensory neuropathy (HMSN), is a group of disorders characterized by a chronic motor and sensory polyneuropathy. Based on nerve conduction ... | Neurodegenerative disease |
(CMT1A/1E) PMP22 [HSA:5376] [KO:K19289] (CMT1B/2I/2J/4E) MPZ [HSA:4359] [KO:K06770] (CMT1C) LITAF [HSA:9516] [KO:K19363] (CMT1D/4E) EGR2 [HSA:1959] [KO:K12496] (CMT1F/2E/DIG) NEFL [HSA:4747] [KO:K04572] (CMT1G) PMP2 [HSA:5375] [KO:K24977] (CMT1H) FBLN5 [HSA:10516] [KO:K17340] (CMT1I) POLR3B [HSA:55703] [KO:K03021] (CMT1J) ITPR3 [HSA:3710] [KO:K04960] (CMT2A1) KIF1B [HSA:23095] [KO:K10392] (CMT2A2/6) MFN2 [HSA:9927] [KO:K06030] (CMT2B) RAB7A [HSA:7879] [KO:K07897] (CMT2B1) LMNA [HSA:4000] [KO:K12641] (CMT2B2) PNKP [HSA:11284] [KO:K08073] (CMT2C) TRPV4 [HSA:59341] [KO:K04973] (CMT2CC) NEFH [HSA:4744] [KO:K04574] (CMT2D) GARS1 [HSA:2617] [KO:K01880] (CMT2DD) ATP1A1 [HSA:476] [KO:K01539] (CMT2EE) MPV17 [HSA:4358] [KO:K13348] (CMT2F) HSPB1 [HSA:3315] [KO:K04455] (CMT2FF) CADM3 [HSA:57863] [KO:K06780] (CMT2GG) GBF1 [HSA:8729] [KO:K18443] (CMT2HH) JAG1 [HSA:182] [KO:K06052] (CMT2II) SLC12A6 [HSA:9990] [KO:K14427] (CMT2K/4A/RIA) GDAP1 [HSA:54332] [KO:K22077] (CMT2K) JPH1 [HSA:56704] [KO:K19530] (CMT2L) HSPB8 [HSA:26353] [KO:K08879] (CMT2M/DIB) DNM2 [HSA:1785] [KO:K23484] (CMT2N) AARS1 [HSA:16] [KO:K01872] (CMT2O) DYNC1H1 [HSA:1778] [KO:K10413] (CMT2P) LRSAM1 [HSA:90678] [KO:K10641] (CMT2Q) DHTKD1 [HSA:55526] [KO:K15791] (CMT2R) TRIM2 [HSA:23321] [KO:K11997] (CMT2S) IGHMBP2 [HSA:3508] [KO:K19036] (CMT2T) MME [HSA:4311] [KO:K01389] (CMT2U) MARS1 [HSA:4141] [KO:K01874] (CMT2V) NAGLU [HSA:4669] [KO:K01205] (CMT2W) HARS1 [HSA:3035] [KO:K01892] (CMT2X) SPG11 [HSA:80208] [KO:K19026] (CMT2Y) VCP [HSA:7415] [KO:K13525] (CMT2Z) MORC2 [HSA:22880] [KO:K24135] (CMT4B1) MTMR2 [HSA:8898] [KO:K18081] (CMT4B2) SBF2 [HSA:81846] [KO:K18061] (CMT4B3) SBF1 [HSA:6305] [KO:K18061] (CMT4C/MNMN) SH3TC2 [HSA:79628] [KO:K24313] (CMT4D) NDRG1 [HSA:10397] [KO:K18266] (CMT4F) PRX [HSA:57716] [KO:K27395] (CMT4H) FGD4 [HSA:121512] [KO:K05723] (CMT4J) FIG4 [HSA:9896] [KO:K22913] (CMT4K) SURF1 [HSA:6834] [KO:K14998] (CMT6B) SLC25A46 [HSA:91137] [KO:K03454] (CMT6C) PDXK [HSA:8566] [KO:K00868] (CMTX1) GJB1 [HSA:2705] [KO:K07620] (CMTX5) PRPS1 [HSA:5631] [KO:K00948] (CMTX6) PDK3 [HSA:5165] [KO:K00898] (CMTDIC) YARS1 [HSA:8565] [KO:K01866] (CMTDIE) INF2 [HSA:64423] [KO:K23958] (CMTDIF) GNB4 [HSA:59345] [KO:K04538] (CMTRIB) KARS1 [HSA:3735] [KO:K04567] (CMTRIC) PLEKHG5 [HSA:57449] [KO:K19464] (CMTRID) COX6A1 [HSA:1337] [KO:K02266] |
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H00270 | Periventricular nodular heterotopia | Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along ... | Congenital malformation |
(PVNH1) FLNA [HSA:2316] [KO:K04437] (PVNH2) ARFGEF2 [HSA:10564] [KO:K18442] (PVNH6) ERMARD [HSA:55780] [KO:K25139] (PVNH7) NEDD4L [HSA:23327] [KO:K13305] (PVNH8) ARF1 [HSA:375] [KO:K07937] (PVNH9) MAP1B [HSA:4131] [KO:K10429] |
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H00403 | Disorders of nucleotide excision repair | ... physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal recessive disorder ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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H00409 | Type 2 diabetes mellitus | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | Endocrine and metabolic disease | hsa04930 Type II diabetes mellitus |
IGF2BP2 [HSA:10644] [KO:K17392] CAPN10 [HSA:11132] [KO:K08579] SLC30A8 [HSA:169026] [KO:K14695] KCNJ11 [HSA:3767] [KO:K05004] MTNR1B [HSA:4544] [KO:K04286] ENPP1 [HSA:5167] [KO:K01513] PPARG [HSA:5468] [KO:K08530] HNF1B [HSA:6928] [KO:K08034] TCF7L2 [HSA:6934] [KO:K04491] WFS1 [HSA:7466] [KO:K14020] PAX4 [HSA:5078] [KO:K08032] HNF1B [HSA:6928] [KO:K08034] AKT2 [HSA:208] [KO:K04456] |
H00473 | Mitochondrial complex I deficiency | Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is ... | 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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H00480 |
X-linked intellectual developmental disorder X-linked mental retardation |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | Mental and behavioural disorder |
(XLID1) IQSEC2 [HSA:23096] [KO:K12495] (XLID3) HCFC1 [HSA:3054] [KO:K14966] (XLID9) FTSJ1 [HSA:24140] [KO:K14864] (XLID12) THOC2 [HSA:57187] [KO:K12879] (XLID19) RPS6KA3 [HSA:6197] [KO:K04373] (XLID21) IL1RAPL1 [HSA:11141] [KO:K05170] (XLID29) ARX [HSA:170302] [KO:K09452] (XLID30) PAK3 [HSA:5063] [KO:K05733] (XLID41) GDI1 [HSA:2664] [KO:K17255] (XLID58) TSPAN7 [HSA:7102] [KO:K06571] (XLID63) ACSL4 [HSA:2182] [KO:K01897] (XLID72) RAB39B [HSA:116442] [KO:K07925] (XLID90) DLG3 [HSA:1741] [KO:K21098] (XLID93) BRWD3 [HSA:254065] [KO:K11798] (XLID96) SYP [HSA:6855] (XLID97) ZNF711 [HSA:7552] [KO:K24376] (XLID98) NEXMIF [HSA:340533] [KO:K25862] (XLID99) USP9X [HSA:8239] [KO:K11840] (XLID100) KIF4A [HSA:24137] [KO:K10395] (XLID101) MID2 [HSA:11043] [KO:K10647] (XLID103) KLHL15 [HSA:80311] [KO:K10452] (XLID104) FRMPD4 [HSA:9758] [KO:K23956] (XLID105) USP27X [HSA:389856] [KO:K11366] (XLID106) OGT [HSA:8473] [KO:K09667] (XLID107) STEEP1 [HSA:63932] [KO:K24996] (XLID108) SLC9A7 [HSA:84679] [KO:K12041] (XLID109) AFF2 [HSA:2334] [KO:K15194] (XLID110) FGF13 [HSA:2258] [KO:K22413] (XLID111) SLITRK2 [HSA:84631] [KO:K25833] (XLID112) ZMYM3 [HSA:9203] [KO:K24675] (XLID113) CSTF2 [HSA:1478] [KO:K14407] |
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H00507 | Dyskeratosis congenita | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | Ribosomopathy |
(DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] (DKCD) TYMS [HSA:7298] [KO:K00560] |
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H00533 |
Hereditary hemorrhagic telangiectasia Osler disease |
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal ... | Congenital malformation |
(HHT1) ENG [HSA:2022] [KO:K06526] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (HHT5) GDF2 [HSA:2658] [KO:K05503] (JPHT) SMAD4 [HSA:4089] [KO:K04501] |
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H00564 | Primary ciliary dyskinesia | Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in ... | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
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H00598 | 46,XX testicular disorder of sex development | 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female ... | Reproductive system disease |
(SRXX1) SRY [HSA:6736] [KO:K09266] (SRXX3) SOX3 [HSA:6658] [KO:K09267] (SRXX4) NR5A1 [HSA:2516] [KO:K08560] (SRXX5) NR2F2 [HSA:7026] [KO:K08548] |
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H00606 |
Early infantile epileptic encephalopathy Developmental and epileptic encephalopathy Ohtahara syndrome |
Early infantile epileptic encephalopathy (EIEE), also known as developmental and epileptic encephalopathy (DEE), is characterized by frequent tonic spasms of early onset within a few months of life, and ... | Nervous system disease |
(DEE1) ARX [HSA:170302] [KO:K09452] (DEE2) CDKL5 [HSA:6792] [KO:K08824] (DEE3) SLC25A22 [HSA:79751] [KO:K15107] (DEE4) STXBP1 [HSA:6812] [KO:K15292] (DEE5) SPTAN1 [HSA:6709] [KO:K06114] (DEE6B) SCN1A [HSA:6323] [KO:K04833] (DEE7) KCNQ2 [HSA:3785] [KO:K04927] (DEE8) ARHGEF9 [HSA:23229] [KO:K20686] (DEE9) PCDH19 [HSA:57526] [KO:K16499] (DEE10) PNKP [HSA:11284] [KO:K08073] (DEE11) SCN2A [HSA:6326] [KO:K04834] (DEE12) PLCB1 [HSA:23236] [KO:K05858] (DEE13) SCN8A [HSA:6334] [KO:K04840] (DEE14) KCNT1 [HSA:57582] [KO:K04946] (DEE15) ST3GAL3 [HSA:6487] [KO:K00781] (DEE16) TBC1D24 [HSA:57465] [KO:K21841] (DEE17) GNAO1 [HSA:2775] [KO:K04534] (DEE18) SZT2 [HSA:23334] [KO:K23298] (DEE19) GABRA1 [HSA:2554] [KO:K05175] (DEE21) NECAP1 [HSA:25977] [KO:K20069] (DEE22) SLC35A2 [HSA:7355] [KO:K15272] (DEE23) DOCK7 [HSA:85440] [KO:K21852] (DEE24) HCN1 [HSA:348980] [KO:K04954] (DEE25) SLC13A5 [HSA:284111] [KO:K14445] (DEE26) KCNB1 [HSA:3745] [KO:K04885] (DEE27) GRIN2B [HSA:2904] [KO:K05210] (DEE28) WWOX [HSA:51741] [KO:K19329] (DEE29) AARS [HSA:16] [KO:K01872] (DEE30) SIK1 [HSA:150094] [KO:K19008] (DEE31A/31B) DNM1 [HSA:1759] [KO:K01528] (DEE32) KCNA2 [HSA:3737] [KO:K04875] (DEE33) EEF1A2 [HSA:1917] [KO:K03231] (DEE34) SLC12A5 [HSA:57468] [KO:K23967] (DEE35) ITPA [HSA:3704] [KO:K01519] (DEE36) ALG13 [HSA:79868] [KO:K07432] (DEE37) FRRS1L [HSA:23732] [KO:K25381] (DEE38) ARV1 [HSA:64801] [KO:K21848] (DEE39) SLC25A12 [HSA:8604] [KO:K15105] (DEE40) GUF1 [HSA:60558] [KO:K21594] (DEE41) SLC1A2 [HSA:6506] [KO:K05613] (DEE42) CACNA1A [HSA:773] [KO:K04344] (DEE43) GABRB3 [HSA:2562] [KO:K05181] (DEE44) UBA5 [HSA:79876] [KO:K12164] (DEE45) GABRB1 [HSA:2560] [KO:K05181] (DEE46) GRIN2D [HSA:2906] [KO:K05212] (DEE47) FGF12 [HSA:2257] [KO:K22413] (DEE48) AP3B2 [HSA:8120] [KO:K12397] (DEE49) DENND5A [HSA:23258] [KO:K20164] (DEE50) CAD [HSA:790] [KO:K11540] (DEE51) MDH2 [HSA:4191] [KO:K00026] (DEE52) SCN1B [HSA:6324] [KO:K04845] (DEE53) SYNJ1 [HSA:8867] [KO:K20279] (DEE54) HNRNPU [HSA:3192] [KO:K12888] (DEE55) PIGP [HSA:51227] [KO:K03861] (DEE56) YWHAG [HSA:7532] [KO:K16198] (DEE57) KCNT2 [HSA:343450] [KO:K04947] (DEE58) NTRK2 [HSA:4915] [KO:K04360] (DEE59) GABBR2 [HSA:9568] [KO:K04615] (DEE60) CNPY3 [HSA:10695] [KO:K22816] (DEE61) ADAM22 [HSA:53616] [KO:K16068] (DEE62) SCN3A [HSA:6328] [KO:K04836] (DEE63) CPLX1 [HSA:10815] [KO:K15294] (DEE64) RHOBTB2 [HSA:23221] [KO:K07868] (DEE65) CYFIP2 [HSA:26999] [KO:K05749] (DEE66) PACS2 [HSA:23241] [KO:K23294] (DEE67) CUX2 [HSA:23316] [KO:K09313] (DEE68) TRAK1 [HSA:22906] [KO:K15369] (DEE69) CACNA1E [HSA:777] [KO:K04852] (DEE70) PHACTR1 [HSA:221692] [KO:K17594] (DEE71) GLS [HSA:2744] [KO:K01425] (DEE72) NEUROD2 [HSA:4761] [KO:K09078] (DEE73) RNF13 [HSA:11342] [KO:K15692] (DEE74) GABRG2 [HSA:2566] [KO:K05186] (DEE75) PARS2 [HSA:25973] [KO:K01881] (DEE76) ACTL6B [HSA:51412] [KO:K11652] (DEE77) PIGQ [HSA:9091] [KO:K03860] (DEE78) GABRA2 [HSA:2555] [KO:K05175] (DEE79) GABRA5 [HSA:2558] [KO:K05175] (DEE80) PIGB [HSA:9488] [KO:K05286] (DEE81) DMXL2 [HSA:23312] [KO:K24155] (DEE82) GOT2 [HSA:2806] [KO:K14455] (DEE83) UGP2 [HSA:7360] [KO:K00963] (DEE84) UGDH [HSA:7358] [KO:K00012] (DEE85) SMC1A [HSA:8243] [KO:K06636] (DEE86) DALRD3 [HSA:55152] [KO:K24973] (DEE87) CDK19 [HSA:23097] [KO:K02208] (DEE88) MDH1 [HSA:4190] [KO:K00025] (DEE89) GAD1 [HSA:2571] [KO:K01580] (DEE90) FGF13 [HSA:2258] [KO:K22413] (DEE91) PPP3CA [HSA:5530] [KO:K04348] (DEE92) GABRB2 [HSA:2561] [KO:K05181] (DEE93) ATP6V1A [HSA:523] [KO:K02145] (DEE94) CHD2 [HSA:1106] [KO:K20091] (DEE95) PIGS [HSA:94005] [KO:K05291] (DEE96) NSF [HSA:4905] [KO:K06027] (DEE97) CELF2 [HSA:10659] [KO:K13207] (DEE98) ATP1A2 [HSA:477] [KO:K01539] (DEE99) ATP1A3 [HSA:478] [KO:K01539] (DEE100) FBXO28 [HSA:23219] [KO:K10306] (DEE101) GRIN1 [HSA:2902] [KO:K05208] (DEE102) SLC38A3 [HSA:10991] [KO:K13576] (DEE103) KCNC2 [HSA:3747] [KO:K04888] (DEE104) ATP6V0A1 [HSA:535] [KO:K02154] (DEE105) HID1 [HSA:283987] (DEE106) UFSP2 [HSA:55325] [KO:K01376] (DEE107) NAPB [HSA:63908] [KO:K26120] (DEE108) MAST3 [HSA:23031] [KO:K08789] (DEE109) FZR1 [HSA:51343] [KO:K03364] (DEE110) CACNA2D1 [HSA:781] [KO:K04858] (DEE111) DEPDC5 [HSA:9681] [KO:K20404] (DEE112) KCNH5 [HSA:27133] [KO:K04908] (DEE113) SV2A [HSA:9900] [KO:K06258] (DEE114) SLC32A1 [HSA:140679] [KO:K15015] (DEE115) SNF8 [HSA:11267] [KO:K12188] (DEE116) GLUL [HSA:2752] [KO:K01915] |
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H00626 | Focal segmental glomerulosclerosis | Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting ... | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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H00627 | Premature ovarian failure | Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins) ... | Reproductive system disease |
(POF1) FMR1 [HSA:2332] [KO:K15516] (POF2A) DIAPH2 [HSA:1730] [KO:K05741] (POF2B) POF1B [HSA:79983] [KO:K23917] (POF3) FOXL2 [HSA:668] [KO:K09405] (POF4) BMP15 [HSA:9210] [KO:K05498] (POF5) NOBOX [HSA:135935] [KO:K24199] (POF6) FIGLA [HSA:344018] [KO:K09066] (POF7) NR5A1 [HSA:2516] [KO:K08560] (POF8) STAG3 [HSA:10734] [KO:K13055] (POF9) HFM1 [HSA:164045] [KO:K15271] (POF10) MCM8 [HSA:84515] [KO:K10737] (POF11) ERCC6 [HSA:2074] [KO:K10841] (POF12) SYCE1 [HSA:93426] [KO:K19534] (POF13) MSH5 [HSA:4439] [KO:K08741] (POF14) GDF9 [HSA:2661] [KO:K22673] (POF15) FANCM [HSA:57697] [KO:K10896] (POF16) BNC1 [HSA:646] [KO:K24146] (POF17) XRCC2 [HSA:7516] [KO:K10879] (POF18) C14orf39 [HSA:317761] [KO:K25705] (POF19) HSF2BP [HSA:11077] [KO:K25791] (POF20) MSH4 [HSA:4438] [KO:K08740] (POF21) TP63 [HSA:8626] [KO:K10149] (POF22) KASH5 [HSA:147872] [KO:K22595] (POF23) MEIOB [HSA:254528] [KO:K22420] (POF24) SYCP2L [HSA:221711] [KO:K19529] |
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H00679 |
Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD) |
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation in the central nervous system. They are clinically characterized by early onset nystagmus, impaired motor development ... | Inherited metabolic disorder |
(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999] |
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H00711 |
Russell-Silver syndrome Silver-Russell syndrome |
... hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. SRS2 is caused by maternal uniparental disomy of chromosome 7. The high proportion of patients ... | Congenital malformation |
(SRS3) IGF2 [HSA:3481] [KO:K13769] (SRS4) PLAG1 [HSA:5324] [KO:K19484] (SRS5) HMGA2 [HSA:8091] [KO:K09283] |
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H00713 | Beckwith-Wiedemann syndrome | ... CDKN1C gene. In the telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 ... | Congenital malformation |
CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
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H00730 | Familial idiopathic ventricular fibrillation | Idiopathic ventricular fibrillation (IVF) is a syndrome that causes sudden cardiac death in individuals with an apparently normal heart. It has been found that a novel SCN5A missense mutation causes the ... | Cardiovascular disease |
(IVF1) SCN5A [HSA:6331] [KO:K04838] (IVF2) DPP6 [HSA:1804] [KO:K23013] |
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H00734 | Autosomal recessive congenital ichthyosis | Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital ... | Congenital malformation |
(ARCI1/ LI1) TGM1 [HSA:7051] [KO:K05619] (ARCI2/ NBCIE) ALOX12B [HSA:242] [KO:K08021] (ARCI3/ LI5) ALOXE3 [HSA:59344] [KO:K18684] (ARCI4/ LI2) ABCA12 [HSA:26154] [KO:K05646] (ARCI5/ LI3) CYP4F22 [HSA:126410] [KO:K17731] (ARCI6) NIPAL4 [HSA:348938] [KO:K22733] (ARCI8/ LI4) LIPN [HSA:643418] [KO:K24210] (ARCI9) CERS3 [HSA:204219] [KO:K24622] (ARCI10) PNPLA1 [HSA:285848] [KO:K16813] (ARCI11) ST14 [HSA:6768] [KO:K08670] (ARCI12) CASP14 [HSA:23581] [KO:K04401] (ARCI13) SDR9C7 [HSA:121214] [KO:K24425] (ARCI14) SULT2B1 [HSA:6820] [KO:K01015] |
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H00766 | Wolcott-Rallison syndrome | Wolcott-Rallison syndrome is a rare autosomal recessive disorder characterized by neonatal insulin-requiring diabetes and associated with skeletal dysplasia and growth retardation. Diabetes appears during ... | Endocrine and metabolic disease | EIF2AK3 [HSA:9451] [KO:K08860] | |
H00768 |
Autosomal recessive intellectual developmental disorder Autosomal recessive mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... | Mental and behavioural disorder |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] |
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H00773 |
Autosomal dominant intellectual developmental disorder Autosomal dominant mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... | Mental and behavioural disorder |
(MRD1) MBD5 [HSA:55777] [KO:K23219] (MRD2) DOCK8 [HSA:81704] [KO:K21852] (MRD3) CDH15 [HSA:1013] [KO:K06809] (MRD4) KIRREL3 [HSA:84623] [KO:K25874] (MRD5) SYNGAP1 [HSA:8831] [KO:K17631] (MRD6) GRIN2B [HSA:2904] [KO:K05210] (MRD7) DYRK1A [HSA:1859] [KO:K08825] (MRD8) GRIN1 [HSA:2902] [KO:K05208] (MRD9) KIF1A [HSA:547] [KO:K10392] (MRD10) CACNG2 [HSA:10369] [KO:K04867] (MRD11) EPB41L1 [HSA:2036] [KO:K23961] (MRD12) ARID1B [HSA:57492] [KO:K11653] (MRD13) DYNC1H1 [HSA:1778] [KO:K10413] (MRD14) ARID1A [HSA:8289] [KO:K11653] (MRD15) SMARCB1 [HSA:6598] [KO:K11648] (MRD16) SMARCA4 [HSA:6597] [KO:K11647] (MRD17) PACS1 [HSA:55690] [KO:K23290] (MRD18) GATAD2B [HSA:57459] [KO:K23194] (MRD19) CTNNB1 [HSA:1499] [KO:K02105] (MRD20) MEF2C [HSA:4208] [KO:K04454] (MRD21) CTCF [HSA:10664] [KO:K23195] (MRD22) ZBTB18 [HSA:10472] [KO:K23196] (MRD23) SETD5 [HSA:55209] [KO:K23216] (MRD24) DEAF1 [HSA:10522] [KO:K23041] (MRD25) AHDC1 [HSA:27245] [KO:K22592] (MRD26) AUTS2 [HSA:26053] [KO:K23214] (MRD27) SOX11 [HSA:6664] [KO:K09268] (MRD29) SETBP1 [HSA:26040] [KO:K23217] (MRD30) ZMYND11 [HSA:10771] [KO:K23218] (MRD31) PURA [HSA:5813] [KO:K21772] (MRD32) KAT6A [HSA:7994] [KO:K11305] (MRD33) DPP6 [HSA:1804] [KO:K23013] (MRD34) COL4A3BP [HSA:10087] [KO:K08283] (MRD35) PPP2R5D [HSA:5528] [KO:K11584] (MRD36) PPP2R1A [HSA:5518] [KO:K03456] (MRD38) EEF1A2 [HSA:1917] [KO:K03231] (MRD39) MYT1L [HSA:23040] [KO:K23193] (MRD40) CHAMP1 [HSA:283489] [KO:K22593] (MRD41) TBL1XR1 [HSA:79718] [KO:K04508] (MRD42) GNB1 [HSA:2782] [KO:K04536] (MRD43) HIVEP2 [HSA:3097] [KO:K09239] (MRD44/63) TRIO [HSA:7204] [KO:K08810] (MRD45) CIC [HSA:23152] [KO:K20225] (MRD46) KCNQ5 [HSA:56479] [KO:K04930] (MRD47) STAG1 [HSA:10274] [KO:K06671] (MRD48) RAC1 [HSA:5879] [KO:K04392] (MRD49) TRIP12 [HSA:9320] [KO:K10590] (MRD50) NAA15 [HSA:80155] [KO:K20792] (MRD51) KMT5B [HSA:51111] [KO:K11429] (MRD52) ASH1L [HSA:55870] [KO:K06101] (MRD53) CAMK2A [HSA:815] [KO:K04515] (MRD54) CAMK2B [HSA:816] [KO:K04515] (MRD55) NUS1 [HSA:116150] [KO:K19177] (MRD56) CLTC [HSA:1213] [KO:K04646] (MRD57) TLK2 [HSA:11011] [KO:K08864] (MRD58) SET [HSA:6418] [KO:K11290] (MRD59) CAMK2G [HSA:818] [KO:K04515] (MRD60) AP2M1 [HSA:1173] [KO:K11826] (MRD61) MED13 [HSA:9969] [KO:K15164] (MRD62) DLG4 [HSA:1742] [KO:K11828] (MRD64) ZNF292 [HSA:23036] [KO:K26728] (MRD65) KDM4B [HSA:23030] [KO:K06709] (MRD66) ATP2B1 [HSA:490] [KO:K05850] (MRD67) GRIA1 [HSA:2890] [KO:K05197] (MRD68) KMT2B [HSA:9757] [KO:K14959] (MRD69) LMAN2L [HSA:81562] [KO:K10083] (MRD70) SETD2 [HSA:29072] [KO:K11423] (MRD71) RFX7 [HSA:64864] [KO:K09175] (MRD72) SRRM2 [HSA:23524] [KO:K13172] (MRD73) TAF4 [HSA:6874] [KO:K03129] (MRD74) HNRNPC [HSA:3183] [KO:K12884] |
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H00822 | Renal hypodysplasia and aplasia | Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations ... | Congenital malformation |
(RHDA1) ITGA8 [HSA:8516] [KO:K06584] (RHDA2) FGF20 [HSA:26281] [KO:K04358] (RHDA3) GREB1L [HSA:80000] [KO:K27478] (RHDA4) GFRA1 [HSA:2674] [KO:K19895] |
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H00831 | Primary dystonia | Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 30 ... | Nervous system disease |
(DYT1) TOR1A [HSA:1861] [KO:K22990] (DYT2) HPCA [HSA:3208] [KO:K23846] (DYT3) TAF1 [HSA:6872] [KO:K03125] (DYT4) TUBB4A [HSA:10382] [KO:K07375] (DYT5) GCH1 [HSA:2643] [KO:K01495] (DYT6) THAP1 [HSA:55145] [KO:K23203] (DYT8) PNKD [HSA:25953] [KO:K23864] (DYT9) SLC2A1 [HSA:6513] [KO:K07299] (DYT10/EKD1) PRRT2 [HSA:112476] [KO:K23897] (DYT11) SGCE [HSA:8910] [KO:K27061] (DYT12) ATP1A3 [HSA:478] [KO:K01539] (DYT16) PRKRA [HSA:8575] [KO:K24540] (DYT22JO/AO) TSPOAP1 [HSA:9256] [KO:K19922] (DYT24) ANO3 [HSA:63982] [KO:K19498] (DYT25) GNAL [HSA:2774] [KO:K04633] (DYT26) KCTD17 [HSA:79734] [KO:K21914] (DYT27) COL6A3 [HSA:1293] [KO:K06238] (DYT28) KMT2B [HSA:9757] [KO:K14959] (DYT29/DYTOABG) MECR [HSA:51102] [KO:K07512] (DYT30) VPS16 [HSA:64601] [KO:K20180] (DYT31) AOPEP [HSA:84909] [KO:K09606] (DYT32) VPS11 [HSA:55823] [KO:K20179] (DYT33) EIF2AK2 [HSA:5610] [KO:K16195] (DYT34) KCNN2 [HSA:3781] [KO:K04943] (DYT35) SHQ1 [HSA:55164] [KO:K14764] (DYT36/EKD3) TMEM151A [HSA:256472] (DYT37) NUP54 [HSA:53371] [KO:K14308] |
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H00838 | Congenital fibrosis of the extraocular muscles | Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear ... | Nervous system disease |
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185] (CFEOM2) PHOX2A [HSA:401] [KO:K09330] (CFEOM3A) TUBB3 [HSA:10381] [KO:K07375] (CFEOM5) COL25A1 [HSA:84570] [KO:K24356] |
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H00866 | Trichothiodystrophy | ... physical retardation. Within photo-sensitive TTD, three TFIIH coding genes (ERCC2, ERCC3, and TTDA/GTF2H5) are implicated. Non-photosensitive trichothiodystrophy (TTDN) is characterized by short stature ... | Skin disease |
(TTD1) ERCC2 [HSA:2068] [KO:K10844] (TTD2) ERCC3 [HSA:2071] [KO:K10843] (TTD3) GTF2H5 [HSA:404672] [KO:K10845] (TTD4) MPLKIP [HSA:136647] [KO:K24575] (TTD5) RNF113A [HSA:7737] [KO:K13127] (TTD6) GTF2E2 [HSA:2961] [KO:K03137] (TTD7) TARS1 [HSA:6897] [KO:K01868] (TTD8) AARS1 [HSA:16] [KO:K01872] (TTD9) MARS1 [HSA:4141] [KO:K01874] |
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H00869 |
Leukoencephalopathy with vanishing white matter Vanishing white matter disease |
... patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under ... | Nervous system disease |
(VWM1) EIF2B1 [HSA:1967] [KO:K03239] (VWM2) EIF2B2 [HSA:8892] [KO:K03754] (VWM3) EIF2B3 [HSA:8891] [KO:K03241] (VWM4) EIF2B4 [HSA:8890] [KO:K03680] (VWM5) EIF2B5 [HSA:8893] [KO:K03240] |
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H00891 | Combined oxidative phosphorylation deficiency | Combined oxidative phosphorylation deficiency (COXPD) is a group of multisystem disorders with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation system. It ... | Inherited metabolic disorder, Mitochondrial disease |
(COXPD1) GFM1 [HSA:85476] [KO:K02355] (COXPD2) MRPS16 [HSA:51021] [KO:K02959] (COXPD3) TSFM [HSA:10102] [KO:K02357] (COXPD4) TUFM [HSA:7284] [KO:K02358] (COXPD5) MRPS22 [HSA:56945] [KO:K17401] (COXPD6) AIFM1 [HSA:9131] [KO:K04727] (COXPD7) MTRFR [HSA:91574] [KO:K23498] (COXPD8) AARS2 [HSA:57505] [KO:K01872] (COXPD9) MRPL3 [HSA:11222] [KO:K02906] (COXPD10) MTO1 [HSA:25821] [KO:K03495] (COXPD11) RMND1 [HSA:55005] [KO:K23499] (COXPD12) EARS2 [HSA:124454] [KO:K01885] (COXPD13) PNPT1 [HSA:87178] [KO:K00962] (COXPD14) FARS2 [HSA:10667] [KO:K01889] (COXPD15) MTFMT [HSA:123263] [KO:K00604] (COXPD16) MRPL44 [HSA:65080] [KO:K17425] (COXPD17) ELAC2 [HSA:60528] [KO:K00784] (COXPD18) SFXN4 [HSA:119559] [KO:K23502] (COXPD19) LYRM4 [HSA:57128] [KO:K22069] (COXPD20) VARS2 [HSA:57176] [KO:K01873] (COXPD21) TARS2 [HSA:80222] [KO:K01868] (COXPD22) ATP5F1A [HSA:498] [KO:K02132] (COXPD23) GTPBP3 [HSA:84705] [KO:K03650] (COXPD24) NARS2 [HSA:79731] [KO:K01893] (COXPD25) MARS2 [HSA:92935] [KO:K01874] (COXPD26) TRMT5 [HSA:57570] [KO:K15429] (COXPD27) CARS2 [HSA:79587] [KO:K01883] (COXPD28) SLC25A26 [HSA:115286] [KO:K15111] (COXPD29) TXN2 [HSA:25828] [KO:K03671] (COXPD30) TRMT10C [HSA:54931] [KO:K17654] (COXPD31) MIPEP [HSA:4285] [KO:K01410] (COXPD32) MRPS34 [HSA:65993] [KO:K17412] (COXPD33) C1QBP [HSA:708] [KO:K15414] (COXPD34) MRPS7 [HSA:51081] [KO:K02992] (COXPD35) TRIT1 [HSA:54802] [KO:K00791] (COXPD36) MRPS2 [HSA:51116] [KO:K02967] (COXPD37) MICOS13 [HSA:125988] [KO:K24624] (COXPD38) MRPS14 [HSA:63931] [KO:K02954] (COXPD39) GFM2 [HSA:84340] [KO:K02355] (COXPD40) QRSL1 [HSA:55278] [KO:K02433] (COXPD41) GATB [HSA:5188] [KO:K02434] (COXPD42) GATC [HSA:283459] [KO:K02435] (COXPD43) TIMM22 [HSA:29928] [KO:K17790] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (COXPD45) MRPL12 [HSA:6182] [KO:K02935] (COXPD46) MRPS23 [HSA:51649] [KO:K17402] (COXPD47) MRPS28 [HSA:28957] [KO:K17407] (COXPD48) NSUN3 [HSA:63899] [KO:K21969] (COXPD49) MIEF2 [HSA:125170] [KO:K23507] (COXPD50) MRPS25 [HSA:64432] [KO:K17404] (COXPD51) PTCD3 [HSA:55037] [KO:K17659] (COXPD52) NFS1 [HSA:9054] [KO:K04487] (COXPD53) C2orf69 [HSA:205327] (COXPD54) PRORP [HSA:9692] [KO:K17655] (COXPD55) POLRMT [HSA:5442] [KO:K10908] (COXPD56) TAMM41 [HSA:132001] [KO:K17807] (COXPD57) CRLS1 [HSA:54675] [KO:K08744] (COXPD58) TEFM [HSA:79736] [KO:K17658] (COXPD59) MRPL39 [HSA:54148] [KO:K17420] |
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H00917 | Congenital dyserythropoietic anemia | Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid ... | Hematologic disease |
(CDAIA) CDAN1 [HSA:146059] [KO:K19531] (CDAIB) CDIN1 [HSA:84529] [KO:K24865] (CDAII) SEC23B [HSA:10483] [KO:K14006] (CDAIIIA) KIF23 [HSA:9493] [KO:K17387] (CDAIIIB) RACGAP1 [HSA:29127] [KO:K16733] (CDAIV) KLF1 [HSA:10661] [KO:K09204] |
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H00921 |
Revesz syndrome Dyskeratosis congenita, autosomal dominant 5 Exudative retinopathy with bone marrow failure |
Revesz syndrome is a rare congenital disorder characterized by bilateral exudative retinopathy, severe aplastic anaemia, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation ... | Congenital malformation | TINF2 [HSA:26277] [KO:K11112] | |
H00983 | Alpha-2-plasmin inhibitor (a2-PI) deficiency | ... deficiency is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Mutations in SERPINF2 gene cause a2-PI deficiency. A2-PI acts as the primary inhibitor of plasminogen, and its deficiency ... | Hematologic disease | SERPINF2 [HSA:5345] [KO:K03983] | |
H01109 |
Chronic mucocutaneous candidiasis Familial candidiasis (CANDF) |
Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic ... | Immune system disease |
(CANDF2) CARD9 [HSA:64170] [KO:K12794] (CANDF4) CLEC7A [HSA:64581] [KO:K10074] (CANDF5) IL17RA [HSA:23765] [KO:K05164] (CANDF6) IL17F [HSA:112744] [KO:K05494] (CANDF7) STAT1 [HSA:6772] [KO:K11220] (CANDF8) TRAF3IP2 [HSA:10758] [KO:K21124] (CANDF9) IL17RC [HSA:84818] [KO:K05166] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |