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Entry Name Description Category Pathway Gene
H00049 Myxoid liposarcoma ... the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and pleomorphic types. The myxoid ... Cancer FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452]
EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452]
H00786 Hypotrichosis Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... Skin disease (HYPT1) APCDD1 [HSA:147495] [KO:K25812]
(HYPT2) CDSN [HSA:1041] [KO:K23457]
(HYPT3) KRT74 [HSA:121391] [KO:K07605]
(HYPT4) HRURF [HSA:120766137] [KO:K28373]
(HYPT4/MUHH1) HR [HSA:55806] [KO:K00478]
(HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277]
(HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599]
(HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404]
(HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273]
(HYPT11) SNRPE [HSA:6635] [KO:K11097]
(HYPT12) RPL21 [HSA:6144] [KO:K02889]
(HYPT13) KRT71 [HSA:112802] [KO:K07605]
(HYPT14) LSS [HSA:4047] [KO:K01852]
(HYPT15) C3orf52 [HSA:79669] [KO:K26953]
H00853 Cenani-Lenz syndactyly syndrome Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density ... Congenital malformation LRP4 [HSA:4038] [KO:K20051]
H01202 Cataract Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can ... Nervous system disease (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H02303 Alopecia-mental retardation syndrome Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental ... Congenital malformation (APMR1) AHSG [HSA:197] [KO:K23409]
(APMR4) LSS [HSA:4047] [KO:K01852]
H02333 Laurin-Sandrow syndrome Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that ... Congenital malformation (LSS) ZRS/LMBR1 [HSA:64327] [KO:K25217]
H02856 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is caused by heterozygous missense mutations in the CACNA1C gene and is characterized by neurodevelopmental ... Congenital malformation CACNA1C [HSA:775] [KO:K04850]
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