Ichthyosis with hypotrichosis

Disease Term Disease ID Gene Symbol Classification References Source
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 C4539772 SDR9C7 Causal Pathogenic evidence from ClinVar 28173123, 28369735 ClinVar
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 C4539754 SULT2B1 Causal Pathogenic evidence from ClinVar 28575648 ClinVar
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 C3888093 SULT2B1 Causal Pathogenic evidence from ClinVar 28575648 ClinVar
ALOX12B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11773004, 15629692, 16116617, 17139268, 19131948, 19890349, 20222929, 26762237 -
ALOXE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 C2677065 ADAM19 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15317751, 17557927, 20016120, 22622417, 24397709, 25458912, 26762237 -
NIPAL4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15317751, 17557927, 20016120, 22622417, 24397709, 25458912, 26456858, 26762237 -
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 C3539888 ALOXE3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11773004, 15629692, 16116617, 19131948, 19890349, 25998749 -
SEC23B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19561605, 19621418, 20015893, 21850656 -
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 C3554349 CERS3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23549421, 23754960 -
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 C3553029 LIPN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21439540 -
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 C3554355 PNPLA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22246504, 26778108, 28369476 -
Ichthyosis with hypotrichosis, autosomal recessive C1835851 ST14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17273967, 18445049, 18843291 -