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Entry Name Description Category Pathway Gene
H00036 Osteosarcoma Osteosarcoma is the most common type of primary bone cancer. Approximately 900 new cases of osteosarcoma are diagnosed each year in the United States. The presentation of this disease is bimodal, with ... Cancer MDM2 (amplification) [HSA:4193] [KO:K06643]
TSPAN31 (amplification) [HSA:6302] [KO:K17356]
MYC (amplification) [HSA:4609] [KO:K04377]
TP53 [HSA:7157] [KO:K04451]
RB1 [HSA:5925] [KO:K06618]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
CHEK2 [HSA:11200] [KO:K06641]
H00403 Disorders of nucleotide excision repair ... CS is predominantly a developmental and neurological disorder. It results in a severely reduced lifespan but is not linked to an increased incidence of cancer. The three of the XP genes (ERCC2, ERCC3, ... 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]
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]
H00589 Familial exudative vitreoretinopathy ... been shown to participate in the Wnt/Norrin signaling pathway. Recently, heterozygous mutations in TSPAN12, which is a component of the Norrin-FZD4-LRP5 signaling complex, have been found to be responsible ... 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]
H00674 Anemia due to disorders of nucleotide metabolism Abnormalities in erythrocyte nucleotide metabolism are associated with hereditary nonspherocytic hemolytic anemia. Deficiencies of adenylate kinase and pyrimidine 5'-nucleotidase shorten the red cell lifespan. Hematologic disease (AK) AK1 [HSA:203] [KO:K00939]
(P5N) NT5C3A [HSA:51251] [KO:K24242]
H01492 Systemic sclerosis
Systemic scleroderma 		... distinguished by the degree and the extent of cutaneous sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear ... Immune system disease; Skin disease
H01504 Vogt-Koyanagi-Harada syndrome
Vogt-Koyanagi-Harada disease
Uveomeningoencephalitic syndrome 		... poliosis. VKHS is more common in individuals of pigmented skin, such as Asians, Middle Easterners, Hispanics and Native Americans. Although the exact etiology of VKHS remains unclear, it has also been postulated ... Immune system disease; Nervous system disease HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DRB4 [HSA:3126] [KO:K06752]
H01748 NLRC4 inflammasomopathy The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC) ... Immune system disease NLRC4 [HSA:58484] [KO:K12805]
H01796 Uncombable hair syndrome
Spun glass hair syndrome
Pili trianguli et canaliculi 		Uncombable hair syndrome (UHS) is a rare anomaly of the hair shaft characterized by dry, frizzy, spangly, and often fair hair that is resistant to being combed flat. Both simplex and familial UHS-affected ... Congenital malformation (UHS1) PADI3 [HSA:51702] [KO:K01481]
(UHS2) TGM3 [HSA:7053] [KO:K05620]
(UHS3) TCHH [HSA:7062] [KO:K18626]
H01825 Spondylometaphyseal dysplasia, Sedaghatian type ... iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported ... Congenital malformation GPX4 [HSA:2879] [KO:K05361]
H01883 Nestor-Guillermo progeria syndrome ... cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 ... Inherited metabolic disorder BANF1 [HSA:8815] [KO:K21870]
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