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