Source: CLINVAR

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: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C4023295
Disease: Cleft anterior mitral valve leaflet
Cleft anterior mitral valve leaflet 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		disease 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0040485
Disease: Torticollis
Torticollis 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0039070
Disease: Syncope
Syncope 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype 0.100 None 0 1
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		actin like 6A 0.678 0.346 1.00
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype 0.100 None 0 1