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: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 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: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 GeneticVariation disease LHGDN Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. 15317751 2004
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0.120 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013592
Disease: Ectropion
Ectropion 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017086
Disease: Gangrene
Gangrene 		0.100 Biomarker disease HPO
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C0022568
Disease: Keratitis
Keratitis 		0.100 Biomarker disease HPO
CUI: C0030436
Disease: Parakeratosis
Parakeratosis 		0.100 Biomarker disease 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: C0243026
Disease: Sepsis
Sepsis 		0.100 Biomarker disease HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
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