Source: INFERRED

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: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 10 1 1999 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 10 4 1999 2017
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		disease 0.720 None 1.000 2 29 1989 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1623258
Disease: Electrocardiography
Electrocardiography 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1303001
Disease: Congenital euryblepharon
Congenital euryblepharon 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1846339
Disease: Externally rotated hips
Externally rotated hips 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0426415
Disease: Large nose
Large nose 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0426421
Disease: Wide nose
Wide nose 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype 0.100 None 0 0
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		actin beta 0.325 0.923 0.99
CUI: C0456132
Disease: Large fontanelle
Large fontanelle 		phenotype 0.100 None 0 0