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: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.100 Biomarker phenotype HPO
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		0.100 Biomarker phenotype HPO
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		0.100 Biomarker phenotype HPO
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		0.100 Biomarker phenotype HPO
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		0.100 Biomarker phenotype HPO
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		0.100 Biomarker phenotype HPO
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.100 Biomarker disease HPO
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 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: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 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: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis. 29174370 2018
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Novel mutation in NIPAL4 in a Romanian family with autosomal recessive congenital ichthyosis. 26456858 2016
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 GeneticVariation disease BEFREE Two of the NIPAL4 mutation bearing pedigrees were classified as CIE and one as LI. 22098531 2012
CUI: C0079583
Disease: Ichthyosiform Erythroderma, Congenital
Ichthyosiform Erythroderma, Congenital 		0.080 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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab. 31532840 2019
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 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: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 Biomarker disease BEFREE However, the role of NIPAL4 in skin barrier formation and the molecular mechanism of ichthyosis pathology caused by NIPAL4 mutations, have not yet been determined. 29174370 2018
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		0.070 GeneticVariation disease BEFREE A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs. 28122049 2017