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
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
0.700 Biomarker disease GENOMICS_ENGLAND
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
0.700 Biomarker disease GENOMICS_ENGLAND
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6
0.700 Biomarker disease CTD_human
Congenital Nonbullous Ichthyosiform Erythroderma
0.680 Biomarker disease GENOMICS_ENGLAND
Congenital Nonbullous Ichthyosiform Erythroderma
0.680 Biomarker disease HPO
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