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: C0392163
Disease: Corneal erosion
Corneal erosion 		0.100 Biomarker disease HPO
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.100 Biomarker phenotype HPO
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		0.100 Biomarker disease HPO
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: C1274215
Disease: Autosomal recessive ichthyosis
Autosomal recessive ichthyosis 		0.010 AlteredExpression disease BEFREE NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis. 20016120 2010
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: 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: 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: 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: 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
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: 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: 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: 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