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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00003 | Acute myeloid leukemia | ... and K-Ras, in Kit, and sporadically in other RTKs. Alterations in myeloid transcription factors governing hematopoietic differentiation provide second necessary event for leukemogenesis. Transcription factor ... | Cancer | hsa05221 Acute myeloid leukemia |
PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126] |
| H00015 | Malignant pleural mesothelioma | Malignant mesothelioma (MM) is a rare but very aggressive tumor that arises from mesothelial cells lining the pleural, peritoneal and pericardial cavities. Malignant pleural mesothelioma (MPM) is the most ... | 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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| H00026 | Endometrial cancer | ... their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification. | Cancer | hsa05213 Endometrial cancer |
ERBB2 (amplification) [HSA:2064] [KO:K05083] PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110] MLH1 (mutation, methylation) [HSA:4292] [KO:K08734] KRAS [HSA:3845] [KO:K07827] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] MSH3 [HSA:4437] [KO:K08736] CDH1 [HSA:999] [KO:K05689] |
| H00029 | Vulvar cancer | ... molecular changes in the genesis of vulvar cancer. Some studies suggest that early p53 mutation may be a defining step only in HPV-negative tumors. A rather small study suggests that mutation in phosphatase and ... | Cancer |
PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] |
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| H00031 | Breast cancer | ... among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
| H00035 | Ewing sarcoma | ... 10-15% of cases the translocation t(21;22)(q22;q12) generates the EWSR1-ERG fusion, whereas the remaining 1-5% of cases may harbor one of several possible translocations, each resulting in a fusion gene ... | Cancer |
EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436] EWSR1-ERG (translocation) [HSA:2078] [KO:K09435] EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431] EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592] EWSR1-FEV (translocation) [HSA:54738] [KO:K09437] EWSR1 [HSA:2130] [KO:K13209] |
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| H00043 | Neuroblastoma | ... neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These ... | Cancer |
MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
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| H00048 |
Hepatocellular carcinoma Liver cancer |
... driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin ... | 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] |
| H00058 |
Amyotrophic lateral sclerosis (ALS) Lou Gehrig disease |
... cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show familial inheritance, with mutations in SOD1, TDP43(TARDBP), FUS, or C9orf72 genes ... | Neurodegenerative disease | hsa05014 Amyotrophic lateral sclerosis |
(ALS1) SOD1 [HSA:6647] [KO:K04565] (ALS1) NEFH [HSA:4744] [KO:K04574] (ALS1) PRPH [HSA:5630] [KO:K07607] (ALS1) DCTN1 [HSA:1639] [KO:K04648] (ALS2) ALS2 [HSA:57679] [KO:K04575] (ALS4) SETX [HSA:23064] [KO:K10706] (ALS5) SPG11 [HSA:80208] [KO:K19026] (ALS6) FUS [HSA:2521] [KO:K13098] (ALS8) VAPB [HSA:9217] [KO:K10707] (ALS9) ANG [HSA:283] [KO:K16631] (ALS10) TARDBP [HSA:23435] [KO:K23600] (ALS11) FIG4 [HSA:9896] [KO:K22913] (ALS12) OPTN [HSA:10133] [KO:K19946] (ALS15) UBQLN2 [HSA:29978] [KO:K04523] (ALS16) SIGMAR1 [HSA:10280] [KO:K20719] (ALS18) PFN1 [HSA:5216] [KO:K05759] (ALS19) ERBB4 [HSA:2066] [KO:K05085] (ALS20) HNRNPA1 [HSA:3178] [KO:K12741] (ALS21) MATR3 [HSA:9782] [KO:K13213] (ALS22) TUBA4A [HSA:7277] [KO:K07374] (ALS23) ANXA11 [HSA:311] [KO:K17095] (ALS24) NEK1 [HSA:4750] [KO:K08857] (ALS25) KIF5A [HSA:3798] [KO:K10396] (ALS26) TIA1 [HSA:7072] [KO:K13201] (ALS27) SPTLC1 [HSA:10558] [KO:K00654] (ALS28) LRP12 [HSA:29967] [KO:K20050] (ALSPDC) TRPM7 [HSA:54822] [KO:K04982] (ALSPDC) MAPT [HSA:4137] [KO:K04380] |
| H00059 | Huntington disease | ... and impairs autophagy function, increasing neuronal death susceptibility. N-terminal fragments containing the polyQ stretch translocate to the nucleus where they impair transcription and induce neuronal ... | Neurodegenerative disease | hsa05016 Huntington disease | (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533] |
| H00062 |
Spinal and bulbar muscular atrophy (SBMA) Kennedy disease |
... atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease that only affects males. SBMA ... | Neurodegenerative disease | (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557] | |
| H00078 | Frontotemporal lobar degeneration | ... implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing protein (VCP) and chromatin modifying protein 2B (CHMP2B). MAPT mutations are associated with tau ... | Neurodegenerative disease |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
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| H00082 | Graves disease | ... thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as ... | Immune system disease | ||
| H00085 | Agammaglobulinemias | ... agammaglobulinemia (XLA), account for approximately 85% of affected patients. Approximately half of the remaining patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR ... | Immune system disease |
(AGMX1) BTK [HSA:695] [KO:K07370] (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470] (AGM2) IGLL1 [HSA:3543] [KO:K06554] (AGM3) CD79A [HSA:973] [KO:K06506] (AGM4) BLNK [HSA:29760] [KO:K07371] (AGM5) LRRC8A [HSA:56262] [KO:K22038] (AGM6) CD79B [HSA:974] [KO:K06507] (AGM7) PIK3R1 [HSA:5295] [KO:K02649] (AGM8A/8B) TCF3 [HSA:6929] [KO:K09063] (AGM9) SLC39A7 [HSA:7922] [KO:K14713] (AGM10) SPI1 [HSA:6688] [KO:K09438] |
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| H00094 | Immunodeficiency associated with DNA repair defects | ... telangiectasia mutated (ATM), NBS, and Mre11 genes, respectively. These genes are critical in maintaining cellular resistance to ionizing radiation (IR), which kills largely by the production of double-strand ... | Primary immunodeficiency |
ATM [HSA:472] [KO:K04728] MRE11A [HSA:4361] [KO:K10865] NBS1(Nibrin) [HSA:4683] [KO:K10867] LIG1 [HSA:3978] [KO:K10747] LIG4 [HSA:3981] [KO:K10777] BLM [HSA:641] [KO:K10901] MCM4 [HSA:4173] [KO:K02212] (LICS) NSMCE3 [HSA:56160] [KO:K22823] |
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| H00099 | Leukocyte adhesion deficiency | ... have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes ... | Primary immunodeficiency |
ITGB2 [HSA:3689] [KO:K06464] SLC35C1 [HSA:55343] [KO:K15279] FERMT3 [HSA:83706] [KO:K17084] RAC2 [HSA:5880] [KO:K07860] |
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| H00100 | Neutropenic disorders | Neutropenias represents a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria ... | Primary immunodeficiency |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] |
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| H00103 | Late complement pathway defects | ... deficiencies of C5, C6, C7, or C8 are particularly susceptible to systemic infections with Neisseria meningitidies and N. gonorrhoeae. Infections are rarely fulminant but are often recurrent and frequently ... | Primary immunodeficiency |
(C5D) C5 [HSA:727] [KO:K03994] (C6D) C6 [HSA:729] [KO:K03995] (C7D) C7 [HSA:730] [KO:K03996] (C8D1) C8A [HSA:731] [KO:K03997] (C8D2) C8B [HSA:732] [KO:K03998] (C9D) C9 [HSA:735] [KO:K04000] C8G [HSA:733] [KO:K03999] |
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| H00106 | Complement regulatory protein defects | ... feature. Factor I-deficient patients present high susceptibility to respiratory tract infections and meningitis. Kidney impairment and autoimmune disorders have also been observed. Only a single case of CD59 ... | Primary immunodeficiency |
SERPING1 [HSA:710] [KO:K04001] C4BPA [HSA:722] [KO:K04002] C4BPB [HSA:725] [KO:K04003] CFI [HSA:3426] [KO:K01333] CD55 [HSA:1604] [KO:K04006] CD59 [HSA:966] [KO:K04008] |
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| H00144 | Mucolipidosis IV | ... endosomal/lysosomal ion channel. Cells from patients with MLIV accumulate enlarged vacuolar structures containing phospholipids, sphingolipids, mucopolysaccharides, and gangliosides. Accumulation of lipids results ... | Inherited metabolic disorder, Lysosomal disease | MCOLN1 [HSA:57192] [KO:K04992] | |
| H00167 |
Phenylketonuria Hyperphenylalaninemia |
... of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues ... | Inherited metabolic disorder |
(PKU) PAH [HSA:5053] [KO:K00500] (HPABH4A) PTS [HSA:5805] [KO:K01737] (HPABH4B) GCH1 [HSA:2643] [KO:K01495] (HPABH4C) QDPR [HSA:5860] [KO:K00357] (HPABH4D) PCBD1 [HSA:5092] [KO:K01724] (HPANBH4) DNAJC12 [HSA:56521] [KO:K09532] |
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| H00168 | Oculocutaneous albinism | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. | Inherited metabolic disorder |
(OCA1) TYR [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] [KO:K24200] (OCA2) MC1R [HSA:4157] [KO:K04199] (OCA3) TYRP1 [HSA:7306] [KO:K00506] (OCA4) SLC45A2 [HSA:51151] [KO:K15378] (OCA6) SLC24A5 [HSA:283652] [KO:K13753] (OCA7) LRMDA [HSA:83938] [KO:K24399] (OCA8) DCT [HSA:1638] [KO:K01827] |
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| H00172 | Maple syrup urine disease | ... effective therapies that are in use for MSUD; the dietary therapy and thiamin supplementation. The dietary therapy, which involves feeding patients with a synthetic diet containing reduced BCAA contents. | Inherited metabolic disorder |
(MSUD1A) BCKDHA [HSA:593] [KO:K00166] (MSUD1B) BCKDHB [HSA:594] [KO:K00167] (MSUD2) DBT [HSA:1629] [KO:K09699] (DLDD) DLD [HSA:1738] [KO:K00382] (MSUDMV) PPM1K [HSA:152926] [KO:K17505] |
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| H00182 | Cystathioninuria | Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria ... | Inherited metabolic disorder | CTH [HSA:1491] [KO:K01758] | |
| H00183 | Homocystinuria | Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. | Inherited metabolic disorder |
CBS [HSA:875] [KO:K01697] MTHFR [HSA:4524] [KO:K25004] (HMAE) MTRR [HSA:4552] [KO:K00597] (HMAG) MTR [HSA:4548] [KO:K00548] |
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| H00184 | Hypermethioninemia | Hypermethioninemia is an inborn error of methionine metabolism. | Inherited metabolic disorder |
MAT1A [HSA:4143] [KO:K00789] AHCY [HSA:191] [KO:K01251] GNMT [HSA:27232] [KO:K00552] ADK [HSA:132] [KO:K00856] |
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| H00185 | Citrullinemia | Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. | Inherited metabolic disorder |
(CTLN1) ASS1 [HSA:445] [KO:K01940] (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] |
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| H00186 | Hyperargininemia | Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy. | Inherited metabolic disorder | ARG1 [HSA:383] [KO:K01476] | |
| H00193 | Dihydropyrimidine dehydrogenase deficiency | Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil. | Inherited metabolic disorder | DPYD [HSA:1806] [KO:K00207] | |
| H00194 |
Lesch-Nyhan syndrome Hypoxanthine-guanine phosophoribosyltransferase deficiency |
Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... | Inherited metabolic disorder | HPRT1 [HSA:3251] [KO:K00760] | |
| H00195 |
Adenine phosphoribosyltransferase deficiency 2,8-Dihydroxyadenine urolithiasis |
Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine. | Inherited metabolic disorder | APRT [HSA:353] [KO:K00759] | |
| H00200 | Beta-ureidopropionase deficiency | Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental ... | Inherited metabolic disorder | UPB1 [HSA:51733] [KO:K01431] | |
| H00206 | Mevalonate kinase deficiency | ... aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS). Mevalonate kinase is located at the beginning of the cholesterol biosynthesis pathway compromising the biosynthesis of nonsterol isoprenes in ... | Inherited metabolic disorder | MVK [HSA:4598] [KO:K00869] | |
| H00207 | Rhizomelic chondrodysplasia punctata | ... autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone formation, and mental retardation. RCDP1 is peroxisome biogenesis ... | Inherited metabolic disorder, Peroxisomal disease |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
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| H00242 | Liddle syndrome | ... rare form of autosomal dominant hypertension characterized by hypokalemic metabolic alkalosis, low-renin activity, and suppressed aldosterone secretion. The mutations in the epithelial Na+ channel gene ... | Cardiovascular disease |
(LIDLS1) SCNN1B [HSA:6338] [KO:K04825] (LIDLS2) SCNN1G [HSA:6340] [KO:K04827] (LIDLS3) SCNN1A [HSA:6337] [KO:K04824] |
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| H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | ... by salt-wasting, hyperkalemia, and metabolic acidosis in the presence of markedly elevated plasma renin activity and aldosterone concentration. In the autosomal dominant form, aldosterone resistance is ... | Urinary system disease |
(PHA1A) NR3C2 [HSA:4306] [KO:K08555] (PHA1B1) SCNN1A [HSA:6337] [KO:K04824] (PHA1B2) SCNN1B [HSA:6338] [KO:K04825] (PHA1B3) SCNN1G [HSA:6340] [KO:K04827] (PHA2B) WNK4 [HSA:65266] [KO:K08867] (PHA2C) WNK1 [HSA:65125] [KO:K08867] (PHA2D) KLHL3 [HSA:26249] [KO:K10443] (PHA2E) CUL3 [HSA:8452] [KO:K03869] |
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| H00245 | Calcium sensing receptor (CASR) related disease | ... expresses in the parathyroid hormone producing chief cells of the parathyroid gland and the cells lining the kidney tubule affect calcium homeostasis. Loss-of-function mutations in the CASR gene are responsible ... | Inherited metabolic disorder | CASR [HSA:846] [KO:K04612] | |
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | ... hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential for early brain development. The neonatal screening can avoid the poor prognosis of hypothyroidism. | Endocrine and metabolic disease |
(CHNG1) TSHR [HSA:7253] [KO:K04249] (CHNG2) PAX8 [HSA:7849] [KO:K09293] (CHNG4) TSHB [HSA:7252] [KO:K05251] (CHNG5) NKX2-5 [HSA:1482] [KO:K09345] (CHNG6) THRA [HSA:7067] [KO:K05547] (CHNG7) TRHR [HSA:7201] [KO:K04282] (CHNG8) TBL1X [HSA:6907] [KO:K04508] (CHNG9) IRS4 [HSA:8471] [KO:K17446] |
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| H00252 | Congenital nephrogenic diabetes insipidus | Nephrogenic diabetes insipidus (NDI) is characterized by renal insensitivity to the antidiuretic effect of arginine vasopressin. | Urinary system disease |
(NDI1) AVPR2 [HSA:554] [KO:K04228] (NDI2) AQP2 [HSA:359] [KO:K09865] |
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| H00255 | Hypogonadotropic hypogonadism | ... 50-60% of the affected individuals exhibit anosmia or hyposmia in association with idiopathic HH, defining Kallmann syndrome. Acquired HH can be caused by drugs, infiltrative or infectious pituitary lesions ... | Endocrine and metabolic disease |
(HH1/KAL1) ANOS1 [HSA:3730] [KO:K23413] (HH2/KAL2) FGFR1 [HSA:2260] [KO:K04362] (HH3/KAL3) PROKR2 [HSA:128674] [KO:K08380] (HH4/KAL4) PROK2 [HSA:60675] [KO:K24191] (HH5/KAL5) CHD7 [HSA:55636] [KO:K14437] (HH6/KAL6) FGF8 [HSA:2253] [KO:K04358] (HH7/FEUNS) GNRHR [HSA:2798] [KO:K04280] (HH8) KISS1R [HSA:84634] [KO:K08374] (HH9) NSMF [HSA:26012] [KO:K23844] (HH10) TAC3 [HSA:6866] [KO:K05240] (HH11) TACR3 [HSA:6870] [KO:K04224] (HH12) GNRH1 [HSA:2796] [KO:K05252] (HH13) KISS1 [HSA:3814] [KO:K23140] (HH14) WDR11 [HSA:55717] [KO:K24260] (HH15) HS6ST1 [HSA:9394] [KO:K02514] (HH16) SEMA3A [HSA:10371] [KO:K06840] (HH17) SPRY4 [HSA:81848] [KO:K17385] (HH18) IL17RD [HSA:54756] [KO:K05167] (HH19) DUSP6 [HSA:1848] [KO:K21946] (HH20) FGF17 [HSA:8822] [KO:K04358] (HH21) FLRT3 [HSA:23767] [KO:K16362] (HH22) FEZF1 [HSA:389549] [KO:K24502] (HH23/FEUNS) LHB [HSA:3972] [KO:K08521] (HH24/IFSHD) FSHB [HSA:2488] [KO:K05250] (HH25) NDNF [HSA:79625] [KO:K25687] (HH26) TCF12 [HSA:6938] [KO:K15603] (HH27) NHLH2 [HSA:4808] [KO:K09075] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |