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Entry Name Description Category Pathway Gene
H00442 Campomelic dysplasia ... congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported. Congenital malformation SOX9 [HSA:6662] [KO:K18435]
H00607 46,XY gonadal dysgenesis ... undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified. Reproductive system disease (SRXY1) SRY [HSA:6736] [KO:K09266]
(SRXY2) NR0B1 [HSA:190] [KO:K08562]
(SRXY3) NR5A1 [HSA:2516] [KO:K08560]
(SRXY5) CBX2 [HSA:84733] [KO:K11451]
(SRXY6) MAP3K1 [HSA:4214] [KO:K04416]
(SRXY7) DHH [HSA:50846] [KO:K11990]
(SRXY8) AKR1C2 [HSA:1646] [KO:K00089]
(SRXY8) AKR1C4 [HSA:1109] [KO:K00037]
(SRXY9) ZFPM2 [HSA:23414] [KO:K17442]
(SRXY11) DHX37 [HSA:57647] [KO:K14780]
(FS/DDS) WT1 [HSA:7490] [KO:K09234]
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