Congenital ichthyosis

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 1
MONDO:0009441
TGM1 Causal — ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 10
MONDO:0014011
PNPLA1 Causal — ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 11
MONDO:0011218
ST14 Causal — ClinVar GenCC
KRT1 Unknown — GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 2
MONDO:0009439
ALOX12B Causal
11773004 17139268
ClinVar GWAS catalog
ALOXE3 Causal — ClinVar
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 3
MONDO:0011680
ALOXE3 Causal
11773004 16116617
ClinVar GWAS catalog
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 4A
MONDO:0011026
ABCA12 Causal — ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 4B
MONDO:0009443
ABCA12 Causal
15756637 16007253 12915478
ClinVar GWAS catalog
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 5
MONDO:0011485
CYP4F22 Causal — ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 6
MONDO:0012847
NIPAL4 Causal — ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 8
MONDO:0013495
LIPN Unknown
21439540
ClinVar GenCC
AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS 9
MONDO:0014010
CERS3 Causal — ClinVar GenCC
CONGENITAL ICHTHYOSIS
C0020758
ABCA12 Unknown — Disgenet
SDR9C7 Unknown — Disgenet
CONGENITAL ICHTHYOSIS OF SKIN
SDR9C7 Causal — ClinVar
CASP14 Unknown — ClinVar