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Entry Name Description Category Pathway Gene
H00002 T-cell acute lymphoblastic leukemia
T-cell acute lymphocytic leukemia 		... and differentiation during thymocyte development. In this context, constitutive activation of NOTCH1 signaling is the most prominent oncogenic pathway in T cell transformation. In addition, T-ALLs characteristically ... Cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [KO:K09068]
TAL2 [HSA:6887] [KO:K09068]
LYL1 (expression) [HSA:4066] [KO:K15604]
MLL-ENL (translocation) [HSA:4297] [KO:K09186]
HOX11 (translocation) [HSA:3195] [KO:K09340]
MYC (translocation) [HSA:4609] [KO:K04377]
LMO2 (translocation) [HSA:4005] [KO:K15612]
HOX11L2 (translocation) [HSA:30012] [KO:K15607]
PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588]
H00007 Hodgkin lymphoma ... plasma cells. HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major pathogenetic mechanism in Hodgkin's lymphoma. The NF-{kappa}B ... Cancer NFKBIA [HSA:4792] [KO:K04734]
NFKBIE [HSA:4794] [KO:K05872]
REL (amplification) [HSA:5966] [KO:K09254]
FAS [HSA:355] [KO:K04390]
KLHDC8B [HSA:200942]
H00014 Non-small cell lung cancer ... within the K-RAS gene inactivate GTPase activity and the p21-RAS protein continuously transmits growth signals to the nucleus. Mutations or overexpression of EGFR leads to a proliferative advantage. EML4-ALK ... Cancer hsa05223 Non-small cell lung cancer EML4-ALK (translocation) [HSA:238] [KO:K05119]
CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088]
KIF5B-RET (inversion) [HSA:5979] [KO:K05126]
RARB (promoter hypermethylation) [HSA:5915] [KO:K08528]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
KRAS [HSA:3845] [KO:K07827]
EGFR [HSA:1956] [KO:K04361]
FHIT [HSA:2272] [KO:K01522]
CDKN2A [HSA:1029] [KO:K06621]
TP53 [HSA:7157] [KO:K04451]
MET [HSA:4233] [KO:K05099]
BRAF [HSA:673] [KO:K04365]
PIK3CA [HSA:5290] [KO:K00922]
IRF1 [HSA:3659] [KO:K09444]
PPP2R1B [HSA:5519] [KO:K03456]
H00019 Pancreatic cancer ... receptors are conventionally regarded as upstream activators of RAS proteins, they can also act as RAS signal transducers via RAS-induced autocrine activation of the EGFR family ligands. Moreover, PDA shows ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00024 Prostate cancer ... molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype ... Cancer hsa05215 Prostate cancer AR (amplification, mutation) [HSA:367] [KO:K08557]
CDKN1B (allelic loss) [HSA:1027] [KO:K06624]
NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348]
PTEN (allelic loss) [HSA:5728] [KO:K01110]
GSTP1 (hypermethylation) [HSA:2950] [KO:K23790]
TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435]
TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431]
TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592]
TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593]
SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431]
SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376]
DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592]
MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679]
KLF6 (somatic mutation) [HSA:1316] [KO:K09207]
MXI1 (somatic mutation) [HSA:4601] [KO:K09114]
ZFHX3 (somatic mutation) [HSA:463] [KO:K09378]
H00031 Breast cancer ... pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch, Wnt/beta-catenin, and EGFR) have been confirmed. 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]
H00039 Basal cell carcinoma ... The development of basal cell carcinoma is associated with constitutive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in continuous activation of target genes ... Cancer hsa05217 Basal cell carcinoma (BCC1) SMO [HSA:6608] [KO:K06226]
(BCC1) PTCH1 [HSA:5727] [KO:K06225]
(BCC1) PTCH2 [HSA:8643] [KO:K11101]
(BCC1) RASA1 [HSA:5921] [KO:K04352]
(BCC7) TP53 [HSA:7157] [KO:K04451]
H00048 Hepatocellular carcinoma
Liver cancer 		... changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin ... 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]
H00053 Extraskeletal myxoid chondrosarcoma ... been identified. The abnormal proteins resulting from these fusion genes aberrantly affect gene transcription and cellular signaling pathways thought to be responsible for initiating sarcoma formation. Cancer EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559]
TAF15-NR4A3 (translocation) [HSA:8013] [KO:K08559]
H00064 Ataxia telangiectasia
Louis-Bar syndrome
Boder-Sedgwick syndrome 		... product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and cell cycle control. Immune system disease; Nervous system disease (AT) ATM [HSA:472] [KO:K04728]
H00085 Agammaglobulinemias ... encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); and lambda 5 (IGLL1), which forms the ... 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]
H00087 Other humoral immunodeficiencies ... caused by mutations in the genes that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin ... Immune system disease DNMT3B [HSA:1789] [KO:K17399]
IGKC
Ig heavy chain
H00089 IFN-gamma/IL-12 axis
Mendelian susceptibility to mycobacterial disease (MSMD) 		... be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma and IFN-alpha signaling. Primary immunodeficiency (IMD27) IFNGR1 [HSA:3459] [KO:K05132]
(IMD28) IFNGR2 [HSA:3460] [KO:K05133]
(IMD29) IL12B [HSA:3593] [KO:K05425]
(IMD30) IL12RB1 [HSA:3594] [KO:K05063]
(IMD31) STAT1 [HSA:6772] [KO:K11220]
(IMD32) IRF8 [HSA:3394] [KO:K10155]
(IMD33) IKBKG [HSA:8517] [KO:K07210]
(IMD34) CYBB [HSA:1536] [KO:K21421]
(IMD38) ISG15 [HSA:9636] [KO:K12159]
(IMD42) RORC [HSA:6097] [KO:K08534]
H00091 T-B+Severe combined immunodeficiency ... of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in ... Primary immunodeficiency IL2RG [HSA:3561] [KO:K05070]
JAK3 [HSA:3718] [KO:K11218]
IL7R [HSA:3575] [KO:K05072]
PTPRC [HSA:5788] [KO:K06478]
CD3D [HSA:915] [KO:K06450]
CD3E [HSA:916] [KO:K06451]
CD247 [HSA:919] [KO:K06453]
CORO1A [HSA:11151] [KO:K13882]
BCL11B [HSA:64919] [KO:K22046]
H00096 Defects of toll-like receptor signaling ... pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. Recently, other monogenic defects of toll-like receptor signaling that cause severe immunodeficiency have been reported. Primary immunodeficiency (IMD67) IRAK4 [HSA:51135] [KO:K04733]
(IMD39) IRF7 [HSA:3665] [KO:K09447]
(IMD74) TLR7 [HSA:51284] [KO:K05404]
(IMD98) TLR8 [HSA:51311] [KO:K10170]
H00107 Other well-defined immunodeficiency syndromes ... levels and susceptibility to infections with extracellular bacteria. Dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form ... Primary immunodeficiency WAS [HSA:7454] [KO:K05747]
TBX1 [HSA:6899] [KO:K10175]
STAT3 [HSA:6774] [KO:K04692]
TYK2 [HSA:7297] [KO:K11219]
SH2D1A [HSA:4068] [KO:K07990]
XIAP [HSA:331] [KO:K04725]
ITK [HSA:3702] [KO:K07363]
AIRE [HSA:326] [KO:K10603]
FOXP3 [HSA:50943] [KO:K10163]
RMRP [HSA:6023] [KO:K14576]
H00238 Fanconi anemia ... chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway). Hematologic disease (FANCA) FANCA [HSA:2175] [KO:K10888]
(FANCB) FANCB [HSA:2187] [KO:K10889]
(FANCC) FANCC [HSA:2176] [KO:K10890]
(FANCD1) BRCA2 [HSA:675] [KO:K08775]
(FANCD2) FANCD2 [HSA:2177] [KO:K10891]
(FANCE) FANCE [HSA:2178] [KO:K10892]
(FANCF) FANCF [HSA:2188] [KO:K10893]
(FANCG) FANCG [HSA:2189] [KO:K10894]
(FANCI) FANCI [HSA:55215] [KO:K10895]
(FANCJ) BRIP1 [HSA:83990] [KO:K15362]
(FANCL) FANCL [HSA:55120] [KO:K10606]
(FANCM) FANCM [HSA:57697] [KO:K10896]
(FANCN) PALB2 [HSA:79728] [KO:K10897]
(FANCO) RAD51C [HSA:5889] [KO:K10870]
(FANCP) SLX4 [HSA:84464] [KO:K10484]
(FANCQ) ERCC4 [HSA:2072] [KO:K10848]
(FANCR) RAD51 [HSA:5888] [KO:K04482]
(FANCS) BRCA1 [HSA:672] [KO:K10605]
(FANCT) UBE2T [HSA:29089] [KO:K13960]
(FANCU) XRCC2 [HSA:7516] [KO:K10879]
(FANCV) MAD2L2 [HSA:10459] [KO:K13728]
(FANCW) RFWD3 [HSA:55159] [KO:K15691]
H00243 Hyperkalemic distal renal tubular acidosis (RTA type 4) ... associated with hyperkalemia due to aldosterone deficiency or impairment in aldosterone molecular signaling. Primary pseudohypoaldosteronism type 1 (PHA1) is characterized by salt-wasting, hyperkalemia ... 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]
H00293 Arrhythmogenic right ventricular cardiomyopathy ... competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00320 Helicobacter pylori infection Helicobacter pylori (HP) is a gram-negative pathogenic bacterium that specifically colonizes in the gastric epithelium and causes chronic gastritis, peptic ulcer disease, and/or gastric malignancies. Persistent ... Bacterial infectious disease hsa05120 Epithelial cell signaling in Helicobacter pylori infection
H00420 Familial partial lipodystrophy ... and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00437 Paget disease of bone ... carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation of RANKL-RANK signaling axis with increases in bone resorption. Hearing impairment and tooth loss is common. Apart from ... Musculoskeletal disease (PDB2) TNFRSF11A [HSA:8792] [KO:K05147]
(PDB3) SQSTM1 [HSA:8878] [KO:K14381]
(PDB5) TNFRSF11B [HSA:4982] [KO:K05148]
(PDB6) ZNF687 [HSA:57592] [KO:K24375]
H00452 Buschke-Ollendorff syndrome
Osteopoikilosis 		... characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein can result in these conditions. LEMD3 is thought to be involved in Smad signaling. Congenital malformation LEMD3 [HSA:23592] [KO:K19410]
H00486 Sclerosteosis ... to loss-of-function mutations in the SOST gene, a protein that binds to LRP5/6 and antagonizes Wnt signaling. Recently, mutations in the LRP4 gene, coding for a Wnt signaling coreceptor, have been found ... Congenital malformation (SOST1) SOST [HSA:50964] [KO:K16834]
(SOST2) LRP4 [HSA:4038] [KO:K20051]
H00497 Cherubism ... in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism. Digestive system disease SH3BP2 [HSA:6452] [KO:K07984]
H00503 Ellis-van Creveld syndrome ... and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease. Congenital malformation EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
H00533 Hereditary hemorrhagic telangiectasia
Osler disease 		... pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has been reported that mutations in SMAD4 cause the combined juvenile polyposis and HHT (JPHT) ... 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]
H00537 Nephronophthisis ... tubular cyst formation, and interstitial cell infiltration with fibrosis. The outcome of these diseases is end-stage renal disease. Multiple signaling pathways are altered because of mutated cilia genes. 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]
H00574 Coffin-Lowry syndrome ... clinical and radiological signs in the hand are useful aids in the diagnosis. Mutations in the RSK2 (RPS6KA3) gene cause CLS. The RPS6KA3 gene encodes RSK2 that is involved with signaling within cells. Congenital malformation RPS6KA3 [HSA:6197] [KO:K04373]
H00589 Familial exudative vitreoretinopathy ... is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of the peripheral retina with the formation of ... 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]
H00632 Heterotaxy
Situs ambiguus 		... axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis. Congenital malformation (HTX1) ZIC3 [HSA:7547] [KO:K18487]
(HTX2) CFC1 [HSA:55997] [KO:K25454]
(HTX4) ACVR2B [HSA:93] [KO:K13596]
(HTX5) NODAL [HSA:4838] [KO:K04666]
(HTX6) CFAP53 [HSA:220136] [KO:K24225]
(HTX7) MMP21 [HSA:118856] [KO:K08000]
(HTX8) PKD1L1 [HSA:168507] [KO:K04987]
(HTX9) MNS1 [HSA:55329] [KO:K25441]
(HTX10) CFAP52 [HSA:146845] [KO:K24728]
(HTX11) CFAP45 [HSA:25790] [KO:K25551]
(HTX12) CIROP [HSA:100128908]
(RAI) GDF1 [HSA:2657] [KO:K05495]
H00651 Hypohidrotic ectodermal dysplasia ... caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by ... Congenital malformation (ECTD1) EDA [HSA:1896] [KO:K05480]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD11A/11B) EDARADD [HSA:128178] [KO:K23324]
(ECTD12) KDF1 [HSA:126695] [KO:K23346]
(ECTD15) CST6 [HSA:1474] [KO:K13902]
H00683 Anonychia congenita ... in which the nails of the fingers and toes are congenitally absent without significant bone anomalies. The teeth and hair are normal. Mutation in RSPO4, a Wnt-signaling component, has been identified. Congenital malformation RSPO4 [HSA:343637] [KO:K23099]
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]
H00853 Cenani-Lenz syndactyly syndrome ... autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling. Congenital malformation LRP4 [HSA:4038] [KO:K20051]
H00895 Basal cell nevus syndrome
Nevoid basal cell carcinoma syndrome
Gorlin syndrome 		... abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway. Congenital malformation (BCNS1) PTCH1 [HSA:5727] [KO:K06225]
(BCNS2) SUFU [HSA:51684] [KO:K06229]
H00910 Hirschsprung disease ... of the gene products include transcription factors regulating gene expression in neural crest cells and in participants in signaling pathways between intestinal mesenchymal cells and neural crest cells. Congenital malformation (HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
H00919 Arterial tortuosity syndrome ... It has been speculated that arterial tortuosity syndrome is caused by the upregulation of TGF-beta signaling that stimulates vessel wall cell proliferation, but other mechanism involving disturbed transport ... Congenital malformation SLC2A10 [HSA:81031] [KO:K08147]
H00923 Congenital systemic glutamine deficiency
Glutamine synthetase deficiency 		... a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported that glutamine was largely absent from affected patients serum, urine, ... Inherited metabolic disorder GLUL [HSA:2752] [KO:K01915]
H00931 Growth hormone insensitivity with immunodeficiency ... insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression. Endocrine and metabolic disease (GHISID1/2) STAT5B [HSA:6777] [KO:K11224]
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