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: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0344505
Disease: Alacrima
Alacrima
disease 0.150 None 1.000 0 0 2003 2013
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype 0.140 None 1.000 0 0 2005 2010
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
disease 0.130 None 1.000 0 0 2005 2009
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0013363
Disease: Dysautonomia
Dysautonomia
disease 0.120 None 1.000 0 0 2005 2019
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C1837352
Disease: Childhood onset
Childhood onset
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
Decreased circulating cortisol level
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
Decreased circulating aldosterone level
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C1856954
Disease: Plantar hyperkeratosis
Plantar hyperkeratosis
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4021548
Disease: Adrenocorticotropin receptor defect
Adrenocorticotropin receptor defect
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4021779
Disease: Abnormality of the calf musculature
Abnormality of the calf musculature
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
Abnormality of the hypothenar eminence
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease 0.100 None 0 0
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype 0.100 None 0 0