Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GermlineCausalMutation ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337

2013
Entrez Id: 348938
Gene Symbol: NIPAL4
NIPAL4
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GermlineCausalMutation ORPHANET We also determined by ISH that NIPAL4 mRNA is highly expressed in the granular cell layer of the epidermis, consistent with the ARCI phenotype. 20016120

2010