Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1848109
Disease: Long fibula
Long fibula 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1850196
Disease: Posterior scalloping of vertebral bodies
Posterior scalloping of vertebral bodies 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C1837260
Disease: Prominent forehead
Prominent forehead 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0019572
Disease: Hirsutism
Hirsutism 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.100 None 0 0
Entrez Id: 54187
Gene Symbol: NANS
NANS 		N-acetylneuraminate synthase 0.545 0.692
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group 0.100 None 0 0