NIPAL4, NIPA like domain containing 4, 348938

N. diseases: 42; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 26762237 2016
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation disease UNIPROT Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations. 25458912 2015
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis. 24397709 2015
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis. 22622417 2012
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. 20016120 2010
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation disease UNIPROT Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 GeneticVariation disease UNIPROT Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 CausalMutation disease CLINVAR Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2677065
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 		0.700 Biomarker disease CTD_human
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE To clarify the changes of ceramide components in the lesional stratum corneum (SC) and the gene expression profile in the lesional skin of an ARCI patient with a novel frameshift mutation in NIPAL4. 31836270 2020
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4. 31347739 2019
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis. 29174370 2018
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GermlineCausalMutation disease ORPHANET Inherited ichthyoses/generalized Mendelian disorders of cornification. 22739337 2013
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GeneticVariation disease BEFREE Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI. 22098531 2012
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 GermlineCausalMutation disease 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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 AlteredExpression disease BEFREE 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
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.680 Biomarker disease HPO