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: C0022408
Disease: Arthropathy
Arthropathy 		0.010 GeneticVariation group BEFREE We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated arthropathy, markedly improved with ustekinumab. 31532840 2019
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker phenotype HPO
CUI: C0151908
Disease: Dry skin
Dry skin 		0.100 Biomarker phenotype HPO
CUI: C0221270
Disease: Acanthosis
Acanthosis 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype 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: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		0.100 Biomarker phenotype HPO
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 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 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 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 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 GeneticVariation disease UNIPROT Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. 17557927 2007