Source: GENOMICS_ENGLAND

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: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1970280
Disease: Hearing loss begins with loss of high frequencies
Hearing loss begins with loss of high frequencies 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1970281
Disease: Audiogram shows sloping configuration
Audiogram shows sloping configuration 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1970282
Disease: Deafness, profound, by 6th decade
Deafness, profound, by 6th decade 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3279369
Disease: Microphthalmia (in some patients)
Microphthalmia (in some patients) 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3549665
Disease: Deafness (in some patients)
Deafness (in some patients) 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3808883
Disease: Short neck (in some patients)
Short neck (in some patients) 		phenotype 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C4231124
Disease: Prominent/full/wide cheeks
Prominent/full/wide cheeks 		phenotype 0.300 strong 1.000 1 0 1996 1996