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Entry Name Description Category Pathway Gene
H00017 Esophageal cancer Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC) ... Cancer EGFR (overexpression) [HSA:1956] [KO:K04361]
PTGS2 (overexpression) [HSA:5743] [KO:K11987]
NOS2 (increased expression) [HSA:4843] [KO:K13241]
FAS (increased expression) [HSA:355] [KO:K04390]
CCND1 (amplification) [HSA:595] [KO:K04503]
TP53 [HSA:7157] [KO:K04451]
CDKN2A [HSA:1029] [KO:K06621]
RB1 [HSA:5925] [KO:K06618]
APC [HSA:324] [KO:K02085]
DCC [HSA:1630] [KO:K06765]
LZTS1 [HSA:11178] [KO:K26460]
RNF6 [HSA:6049] [KO:K22753]
TGFBR2 [HSA:7048] [KO:K04388]
WWOX [HSA:51741] [KO:K19329]
H00018 Gastric cancer ... expression and cyclin E amplification. In addition, amplification and overexpression of c-ErbB2, reduced TGF-beta receptor type I (TGFBRI) expression and complete loss of p27 expression are commonly observed ... Cancer hsa05226 Gastric cancer CDX2 (overexpression) [HSA:1045] [KO:K22234]
TERT (overexpression) [HSA:7015] [KO:K11126]
RARB (reduced expression) [HSA:5915] [KO:K08528]
CDKN1B (reduced expression) [HSA:1027] [KO:K06624]
TGFBR1 (reduced expression) [HSA:7046] [KO:K04674]
ERBB2 (amplification) [HSA:2064] [KO:K05083]
CCNE1 (amplification) [HSA:898] [KO:K06626]
MET (amplification) [HSA:4233] [KO:K05099]
FGFR2 (amplification) [HSA:2263] [KO:K05093]
MLH1 (methylation) [HSA:4292] [KO:K08734]
TP53 [HSA:7157] [KO:K04451]
APC [HSA:324] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
CDH1 [HSA:999] [KO:K05689]
MUTYH [HSA:4595] [KO:K03575]
PIK3CA [HSA:5290] [KO:K00922]
H00020 Colorectal cancer ... secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour ... Cancer hsa05210 Colorectal cancer (HNPCC) MLH1 [HSA:4292] [KO:K08734]
(HNPCC) MLH3 [HSA:27030] [KO:K08739]
(HNPCC) MSH2 [HSA:4436] [KO:K08735]
(HNPCC) MSH6 [HSA:2956] [KO:K08737]
(HNPCC) TGFBR2 [HSA:7048] [KO:K04388]
(FAP) APC [HSA:324] [KO:K02085]
(FAP) MSH3 [HSA:4437] [KO:K08736]
(PPAP) POLD1 [HSA:5424] [KO:K02327]
(PPAP) POLE [HSA:5426] [KO:K02324]
DCC [HSA:1630] [KO:K06765]
KRAS [HSA:3845] [KO:K07827]
GALNT12 [HSA:79695] [KO:K00710]
SMAD7 [HSA:4092] [KO:K19631]
SMAD4 [HSA:4089] [KO:K04501]
SMAD2 [HSA:4087] [KO:K04500]
BAX [HSA:581] [KO:K02159]
AXIN2 [HSA:8313] [KO:K04385]
BRAF [HSA:673] [KO:K04365]
CCND1 [HSA:595] [KO:K04503]
CHEK2 [HSA:11200] [KO:K06641]
CTNNB1 [HSA:1499] [KO:K02105]
FLCN [HSA:201163] [KO:K09594]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
BUB1 [HSA:699] [KO:K02178]
BUB1B [HSA:701] [KO:K06637]
AURKA [HSA:6790] [KO:K11481]
EGF (overexpression) [HSA:1950] [KO:K04357]
TGFA (overexpression) [HSA:7039] [KO:K08774]
EREG (overexpression) [HSA:2069] [KO:K09784]
AREG (overexpression) [HSA:374] [KO:K09782]
H00023 Testicular cancer Testicular germ cell tumor (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: ... Cancer CCND2 (amplification) [HSA:894] [KO:K10151]
FGFR3 [HSA:2261] [KO:K05094]
KIT [HSA:3815] [KO:K05091]
STK11 [HSA:6794] [KO:K07298]
H00025 Penile cancer Penile cancer is a disease with a high morbidity and mortality. Its prevalence is relatively rare in developed countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) ... Cancer p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621]
BMI1 (overexpression) [HSA:648] [KO:K11459]
p53 (mutation) [HSA:7157] [KO:K04451]
MDM2 (overexpression) [HSA:4193] [KO:K06643]
H-ras (mutation) [HSA:3265] [KO:K02833]
c-MYC (mutation) [HSA:4609] [KO:K04377]
E-Cadherin (expression) [HSA:999] [KO:K05689]
MMP-2 (expression) [HSA:4313] [KO:K01398]
MMP-9 (expression) [HSA:4318] [KO:K01403]
COX-2 (expression) [HSA:5743] [KO:K11987]
PTGES2 (expression) [HSA:80142] [KO:K05309]
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]
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]
H00079 Asthma Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway ... Immune system disease hsa05310 Asthma IL4 [HSA:3565] [KO:K05430]
IL4RA [HSA:3566] [KO:K05071]
IL13 [HSA:3596] [KO:K05435]
FCER1B [HSA:2206] [KO:K08090]
TNFA [HSA:7124] [KO:K03156]
ADAM33 [HSA:80332] [KO:K08616]
CD14 [HSA:929] [KO:K04391]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-G [HSA:3135] [KO:K06751]
ADRB2 [HSA:154] [KO:K04142]
ALOX5 [HSA:240] [KO:K00461]
CCL11 [HSA:6356] [KO:K16597]
MUC7 [HSA:4589] [KO:K13909]
PLA2G7 [HSA:7941] [KO:K01062]
SCGB3A2 [HSA:117156] [KO:K25469]
(ASRT1) PTGDR [HSA:5729] [KO:K04332]
(ASRT2) NPSR1 [HSA:387129] [KO:K08376]
(ASRT5) IRAK3 [HSA:11213] [KO:K04732]
(ASRT7) CHI3L1 [HSA:1116] [KO:K17523]
H00083 Allograft rejection Allograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of antigen ... Immune system disease hsa05330 Allograft rejection TNF [HSA:7124] [KO:K03156]
IL10 [HSA:3586] [KO:K05443]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IFNG [HSA:3458] [KO:K04687]
HLA-DMA [HSA:3108] [KO:K06752]
ICAM1 [HSA:3383] [KO:K06490]
CTLA4 [HSA:1493] [KO:K06538]
ACE [HSA:1636] [KO:K01283]
ITGB3 [HSA:3690] [KO:K06493]
H00084 Graft-versus-host disease Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD ... Immune system disease hsa05332 Graft-versus-host disease IL10 [HSA:3586] [KO:K05443]
TNF [HSA:7124] [KO:K03156]
IL1A [HSA:3552] [KO:K04383]
IL1RN [HSA:3557] [KO:K05481]
IFNG [HSA:3458] [KO:K04687]
IL6 [HSA:3569] [KO:K05405]
TGFB1 [HSA:7040] [KO:K13375]
TGFB2 [HSA:7042] [KO:K13376]
TGFB3 [HSA:7043] [KO:K13377]
IL13 [HSA:3596] [KO:K05435]
TNFRSF1B [HSA:7133] [KO:K05141]
IL2 [HSA:3558] [KO:K05429]
H00099 Leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this ... Primary immunodeficiency ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
H00218 Cystic fibrosis Cystic fibrosis (CF) is an autosomal recessive disorder of the exocrine glands caused by mutation of CFTR gene which encodes an ABC transporter for salt homeostasis. CF is a common lethal single-gene disorder ... Respiratory system disease CFTR [HSA:1080] [KO:K05031]
TGFB1 [HSA:7040] [KO:K13375]
FCGR2A [HSA:2212] [KO:K06472]
H00226 Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in ... Hematologic disease (GT1) ITGA2B [HSA:3674] [KO:K06476]
(GT2) ITGB3 [HSA:3690] [KO:K06493]
H00251 Thyroid dyshormonogenesis
Dyshormogenetic goiter 		Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... Endocrine and metabolic disease (TDH1) SLC5A5 [HSA:6528] [KO:K14385]
(TDH2A) TPO [HSA:7173] [KO:K00431]
(TDH2B) SLC26A4 [HSA:5172] [KO:K14702]
(TDH2B) FOXI1 [HSA:2299] [KO:K09401]
(TDH3) TG [HSA:7038] [KO:K10809]
(TDH4) IYD [HSA:389434] [KO:K17231]
(TDH5) DUOXA2 [HSA:405753] [KO:K17232]
(TDH6) DUOX2 [HSA:50506] [KO:K13411]
H00267 Holoprosencephaly Holoprosencephaly (HPE) is characterized by incomplete separation of forebrain and facial components into left and right sides. Congenital malformation (HPE2) SIX3 [HSA:6496] [KO:K19473]
(HPE3) SHH [HSA:6469] [KO:K11988]
(HPE4) TGIF1 [HSA:7050] [KO:K19383]
(HPE5) ZIC2 [HSA:7546] [KO:K06235]
(HPE7) PTCH1 [HSA:5727] [KO:K06225]
(HPE9) GLI2 [HSA:2736] [KO:K16798]
(HPE11) CDON [HSA:50937] [KO:K20033]
(HPE12) CNOT1 [HSA:23019] [KO:K12604]
(HPE13) STAG2 [HSA:10735] [KO:K06671]
(HPE14) PLCH1 [HSA:23007] [KO:K19006]
H00286 Crohn disease Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small ... Immune system disease (IBD1) NOD2 [HSA:64127] [KO:K10165]
(IBD1) IL6 [HSA:3569] [KO:K05405]
(IBD10) ATG16L1 [HSA:55054] [KO:K17890]
(IBD17) IL23R [HSA:149233] [KO:K05065]
(IBD19) IRGM [HSA:345611] [KO:K14139]
(IBD25) IL10RB [HSA:3588] [KO:K05135]
(IBD28) IL10RA [HSA:3587] [KO:K05134]
H00293 Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... 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]
H00431 Ossification of the posterior longitudinal ligament of spine ... ligaments causes myelopathy in patients with OPLL. Genetic linkage studies revealed genes encoding collagens, nucleotide pyrophosphatase, and TGF-beta3 in association with susceptibility to the disease. Musculoskeletal disease COL11A2 [HSA:1302] [KO:K19721]
ENPP1 [HSA:5167] [KO:K01513]
COL6A1 [HSA:1291] [KO:K06238]
TGFB3 [HSA:7043] [KO:K13377]
H00434 Camurati-Engelmann disease
Progressive diaphyseal dysplasia 		... skull. The onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts ... Congenital malformation TGFB1 [HSA:7040] [KO:K13375]
H00533 Hereditary hemorrhagic telangiectasia
Osler disease 		... malformations in the 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 ... 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]
H00550 Complete transposition of the great arteries ... from the morphologic left ventricle, resulting in severe cyanosis. Transposition of the great arteries (TGA) is frequently associated with other cardiac malformations such as ventricular septal defect. TGA ... Congenital malformation CFC1 [HSA:55997] [KO:K25454]
GDF1 [HSA:2657] [KO:K05495]
H00568 Myotonic dystrophy ... complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00586 Epidermolysis bullosa, junctional Inherited epidermolysis bullosa is a diverse group of disorders characterized by mechanically fragile skin that readily blister. The junctional forms of epidermolysis bullosa (JEB) are characterized by ... Congenital malformation (JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244]
(JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240]
(JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246]
(JEB4) COL17A1 [HSA:1308] [KO:K07603]
(JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525]
(JEB6) ITGA6 [HSA:3655] [KO:K06485]
(JEB7) ITGA3 [HSA:3675] [KO:K06482]
H00590 Congenital muscular dystrophies (CMD/MDC) Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system ... 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]
H00604 Deafness, autosomal dominant Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... Nervous system disease (DFNA1) DIAPH1 [HSA:1729] [KO:K05740]
(DFNA2A) KCNQ4 [HSA:9132] [KO:K04929]
(DFNA2B) GJB3 [HSA:2707] [KO:K07622]
(DFNA3A) GJB2 [HSA:2706] [KO:K07621]
(DFNA3B) GJB6 [HSA:10804] [KO:K07625]
(DFNA4A) MYH14 [HSA:79784] [KO:K10352]
(DFNA4B) CEACAM16 [HSA:388551] [KO:K06499]
(DFNA5) GSDME [HSA:1687] [KO:K22146]
(DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020]
(DFNA7) LMX1A [HSA:4009] [KO:K09371]
(DFNA8/12) TECTA [HSA:7007] [KO:K18273]
(DFNA9) COCH [HSA:1690] [KO:K23574]
(DFNA10) EYA4 [HSA:2070] [KO:K17622]
(DFNA11) MYO7A [HSA:4647] [KO:K10359]
(DFNA13) COL11A2 [HSA:1302] [KO:K19721]
(DFNA15) POU4F3 [HSA:5459] [KO:K09366]
(DFNA17) MYH9 [HSA:4627] [KO:K10352]
(DFNA20/26) ACTG1 [HSA:71] [KO:K05692]
(DFNA22) MYO6 [HSA:4646] [KO:K10358]
(DFNA23) SIX1 [HSA:6495] [KO:K15614]
(DFNA25) SLC17A8 [HSA:246213] [KO:K12302]
(DFNA27) REST [HSA:5978] [KO:K09222]
(DFNA28) GRHL2 [HSA:79977] [KO:K09275]
(DFNA34) NLRP3 [HSA:114548] [KO:K12800]
(DFNA36) TMC1 [HSA:117531] [KO:K21988]
(DFNA37) COL11A1 [HSA:1301] [KO:K19721]
(DFNA39) DSPP [HSA:1834] [KO:K23573]
(DFNA40) CRYM [HSA:1428] [KO:K18258]
(DFNA41) P2RX2 [HSA:22953] [KO:K05216]
(DFNA44) CCDC50 [HSA:152137] [KO:K25949]
(DFNA50) MIR96 [HSA:407053] [KO:K17114]
(DFNA56) TNC [HSA:3371] [KO:K06252]
(DFNA64) DIABLO [HSA:56616] [KO:K10522]
(DFNA65) TBC1D24 [HSA:57465] [KO:K21841]
(DFNA66) CD164 [HSA:8763] [KO:K06546]
(DFNA67) OSBPL2 [HSA:9885] [KO:K20174]
(DFNA68) HOMER2 [HSA:9455] [KO:K15010]
(DFNA69) KITLG [HSA:4254] [KO:K05461]
(DFNA70) MCM2 [HSA:4171] [KO:K02540]
(DFNA71) DMXL2 [HSA:23312] [KO:K24155]
(DFNA72) SLC44A4 [HSA:80736] [KO:K15377]
(DFNA73) PTPRQ [HSA:374462] [KO:K16910]
(DFNA74) PDE1C [HSA:5137] [KO:K13755]
(DFNA75) TRRAP [HSA:8295] [KO:K08874]
(DFNA76) PLS1 [HSA:5357] [KO:K17275]
(DFNA77) ABCC1 [HSA:4363] [KO:K05665]
(DFNA78) SLC12A2 [HSA:6558] [KO:K10951]
(DFNA79) SCD5 [HSA:79966] [KO:K00507]
(DFNA80) GREB1L [HSA:80000] [KO:K27478]
(DFNA81) ELMOD3 [HSA:84173] [KO:K23538]
(DFNA82) ATP2B2 [HSA:491] [KO:K05850]
(DFNA83) MAP1B [HSA:4131] [KO:K10429]
(DFNA84) ATP11A [HSA:23250] [KO:K26934]
(DFNA85) USP48 [HSA:84196] [KO:K11858]
(DFNA86) THOC1 [HSA:9984] [KO:K12878]
(DFNA87) PI4KB [HSA:5298] [KO:K19801]
(DFNA88) EPHA10 [HSA:284656] [KO:K08897]
(DFNA89) ATOH1 [HSA:474] [KO:K09083]
(DFNA90) MYO3A [HSA:53904] [KO:K08834]
H00615 Amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead ... Congenital malformation (AI1A) LAMB3 [HSA:3914] [KO:K06244]
(AI1B/C) ENAM [HSA:10117] [KO:K23444]
(AI1E) AMELX [HSA:265] [KO:K23443]
(AI1F) AMBN [HSA:258] [KO:K23442]
(AI1G) FAM20A [HSA:54757] [KO:K21957]
(AI1H) ITGB6 [HSA:3694] [KO:K06589]
(AI1J) ACP4 [HSA:93650] [KO:K19284]
(AI1K) SP6 [HSA:80320] [KO:K09196]
(AI2A1) KLK4 [HSA:9622] [KO:K08666]
(AI2A2) MMP20 [HSA:9313] [KO:K07999]
(AI2A3) WDR72 [HSA:256764] [KO:K24753]
(AI2A4) ODAPH [HSA:152816] [KO:K24398]
(AI2A5) SLC24A4 [HSA:123041] [KO:K13752]
(AI2A6) GPR68 [HSA:8111] [KO:K08408]
(AI3A) FAM83H [HSA:286077] [KO:K23931]
(AI3B) AMTN [HSA:401138] [KO:K25225]
(AI3C) RELT [HSA:84957] [KO:K05156]
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]
H00737 Peeling skin syndrome Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) ... Congenital malformation (PSS1) CDSN [HSA:1041] [KO:K23457]
(PSS2) TGM5 [HSA:9333] [KO:K05622]
(PSS3) CHST8 [HSA:64377] [KO:K09672]
(PSS4) CSTA [HSA:1475] [KO:K13907]
(PSS5) SERPINB8 [HSA:5271] [KO:K13965]
(PSS6) FLG2 [HSA:388698] [KO:K10384]
(PLACK) CAST [HSA:831] [KO:K04281]
H00800 Loeys-Dietz syndrome ... cleft palate, congenital heart disease, and thin, translucent skin. LDS results from mutations in the TGF beta receptor genes. LDS has been subdivided in LDS1 and LDS2 on the basis of the presence or the ... Congenital malformation (LDS1A/2A) TGFBR1 [HSA:7046] [KO:K04674]
(LDS1B/2B) TGFBR2 [HSA:7048] [KO:K04388]
(LDS3) SMAD3 [HSA:4088] [KO:K23605]
(LDS4) TGFB2 [HSA:7042] [KO:K13376]
(LDS5) TGFB3 [HSA:7043] [KO:K13377]
(LDS6) SMAD2 [HSA:4087] [KO:K04500]
H00801 Familial thoracic aortic aneurysm and dissection
Aortic aneurysm familial thoracic type (AAT) 		... Loeys-Dietz syndrome, or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial ... Cardiovascular disease (AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]
H00819 Stargardt disease
Fundus flavimaculatus 		Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE) ... Nervous system disease (STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
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]
H00919 Arterial tortuosity syndrome ... manifestations. 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 ... Congenital malformation SLC2A10 [HSA:81031] [KO:K08147]
H00951 Reis-Bucklers corneal dystrophy
Corneal dystrophy of Bowman type I
Granular corneal dystrophy type III 		... bodies best seen with the electron microscope. Thiel-Behnke dystrophies (TBCD) share many similarities as well as some differences with RBCD. Both RBCD and TBCD are linked to mutations in the TGFBI gene. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00952 Thiel-Behnke dystrophies
Corneal dystrophy of Bowman layer type II
Honeycomb corneal dystrophy
Anterior limiting membrane dystrophy type II
Curly fibers corneal dystrophy
Waardenburg-Jonker corneal dystrophy 		... layer and this finding differentiates it from RBCD. Both TBCD and RBCD are linked to mutations in the TGFBI gene. TBCD is also linked to a mutation on chromosome 10q23-24, the gene product is currently unknown Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00955 Granular corneal dystrophies ... opacities permit to divide into types of GCD; Type I classic form of GCD, type II Avellino or granular-lattice type, and type III Reis-Bucklers type. GCD has been linked to several mutations in TGFBI gene. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H00956 Lattice corneal dystrophies ... dystrophy with variable expression. Clinical findings include the presence of a linear network of subepithelial opacities (lattice lines). LCD associated with the mutations in the TGFBI gene has been reported. Nervous system disease TGFBI [HSA:7045] [KO:K19519]
H01023 Juvenile polyposis syndrome ... juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of patients with JPS. These genes play a role in the BMP/TGF-beta signalling pathway. Neoplasm SMAD4 [HSA:4089] [KO:K04501]
BMPR1A [HSA:657] [KO:K04673]
H01191 Asthma with nasal polyps and aspirin intolerance Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger ... Immune system disease TBX21 [HSA:30009] [KO:K10166]
PTGER2 [HSA:5732] [KO:K04259]
H01221 Epithelial basement membrane corneal dystrophy
Cogan microcystic epithelial dystrophy
Map-dot-fingerprint dystrophy 		... hereditary pattern, but some cases presented with an autosomal dominant inheritance. Mutations in the TGFBI/BIGH3 genes, which are known to cause various forms of corneal dystrophies, have been identified ... Nervous system disease TGFBI [HSA:7045] [KO:K19519]
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