Source: ALL

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: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		disease 0.800 None 0.980 50 18 2000 2019
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 0.300 None 1.000 1 0 2014 2014
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group 0.300 None 1.000 1 0 2014 2014
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 5 1 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 4 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 3 1 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 2 1 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 1 0 2018 2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 6 1 1980 2015
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: C0857899
Disease: Decreased circulating aldosterone level
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: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 1
Entrez Id: 8086
Gene Symbol: AAAS
AAAS 		aladin WD repeat nucleoporin 0.601 0.654 2.4E-13
CUI: C0162834
Disease: Hyperpigmentation
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: 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: 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: C0240063
Disease: Coloboma of iris
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: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype 0.100 None 0 1
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: C1836623
Disease: Decreased circulating cortisol level
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
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		disease 0.100 None 0 1
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: 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: C4023807
Disease: Abnormality of the hypothenar eminence
Abnormality of the hypothenar eminence 		phenotype 0.100 None 0 0