NPAP1, nuclear pore associated protein 1, 23742

N. diseases: 66; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.100 Biomarker phenotype HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		0.100 Biomarker phenotype HPO
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 Biomarker phenotype HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		0.100 Biomarker phenotype HPO
CUI: C0566620
Disease: Nasal voice
Nasal voice 		0.100 Biomarker phenotype HPO
CUI: C0575802
Disease: Small hand
Small hand 		0.100 Biomarker phenotype HPO
CUI: C0576226
Disease: Short foot
Short foot 		0.100 Biomarker phenotype HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		0.100 Biomarker phenotype HPO
CUI: C1837142
Disease: Poor suck
Poor suck 		0.100 Biomarker phenotype HPO
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		0.100 Biomarker phenotype HPO
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker phenotype HPO
CUI: C1843108
Disease: Short palm
Short palm 		0.100 Biomarker phenotype HPO
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		0.100 Biomarker phenotype HPO
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		0.100 Biomarker phenotype HPO