Disease Term Disease ID Gene Symbol References
Congenital non-bullous ichthyosiform erythroderma 79394 ABCA12
ALOX12B
ALOXE3
TGM1
NIPAL4
PNPLA1
CERS3
Congenital Nonbullous Ichthyosiform Erythroderma C0079154 ALOX12B 16792775, 12780701, 18347291, 22739337, 21739938
ERCC2
ERCC3
GBA
LORICRIN
SULT2B1 28575648
TARS1
TGM1 19212342, 27025581, 16968736, 19890349, 22739337, 12780701, 19863506
SPINK5
ABCA12 18284401, 22257947, 16675967, 19262603, 22739337
ABHD5
POMP
ALOXE3 25423909, 21668430, 19131948, 12780701, 21739938
COG7
SDR9C7 28906551, 28369735
CYP4F22 22739337
CERS3 23549421
PNPLA1 22246504
NIPAL4 20016120, 22739337
GTF2H5
LIPN 21439540
ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 C1855792 ALOX12B
ALOXE3