Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.600 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing identified a novel frameshift mutation in SDR9C7 underlying autosomal recessive congenital ichthyosis in a Pakistani family. 28369735 2017
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.600 GeneticVariation disease UNIPROT Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 28173123 2016
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. 28173123 2016
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.600 CausalMutation disease CLINVAR