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: 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: C0025958
Disease: Microcephaly
Microcephaly 		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: 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: C0013336
Disease: Dwarfism
Dwarfism 		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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		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: 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: C0013362
Disease: Dysarthria
Dysarthria 		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: 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: C0039273
Disease: Talipes cavus
Talipes cavus 		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: 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: 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
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
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: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		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: 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: 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: C0004134
Disease: Ataxia
Ataxia 		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: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		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 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: 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: 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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 0