Disease Term Disease ID Gene Symbol References
Ichthyosiform Erythroderma, Congenital C0079583 ALOX12B
STS
IL2RB
ST14
ELOVL4
TGM1
EBP
ABCA12
NSDHL
ALOXE3
CERS3
PNPLA1 28403545
LIPN
Ichthyosis Congenita II C3536797 ALOX12B 21739938
TGM1
ABCA12 16675967
ALOXE3 21739938
Ichthyosis Congenita I C4551630 ALOX12B 21739938
SULT2B1 28575648
TGM1 27442430, 16977323, 20167857, 25525159, 21668430, 26594337, 11511296, 19241467, 9261103, 26220141, 19212342, 7773290, 9593710, 19500103, 10914678, 14996130, 16968736, 9326318, 20522418, 23689228, 23096117, 23621129, 26620441, 23278109, 26076875, 19863506, 20137757, 21895619, 25154629, 16133457, 25998749, 27025581, 20663883, 22992804, 25766764, 22801880, 22437313, 23895935, 19262603, 7824952, 19156839, 12542526, 18948357, 7581379, 24314425, 22511925, 12535215, 19890349, 11298529, 24419105, 11407995, 10886517, 9545389, 17635512, 28403434, 22258055, 11251583, 22311480, 9457916, 26762237, 10232404, 23192619, 16908342
ABCA12 16675967
ALOXE3 21739938
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive C1858133 CYP4F22 26056268, 27025581, 16436457, 25998749, 23871423, 30011118, 27449533, 26762237, 24397709, 23621129, 18034255