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: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		disease 0.700 definitive 1.000 2 0 1996 2016
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		disease 0.700 strong 1.000 1 0 1996 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.430 strong 1.000 1 0 1996 2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.410 strong 1.000 1 0 1996 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.410 strong 1.000 1 0 1996 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype 0.400 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: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		phenotype 0.400 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: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.400 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: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.400 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: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		phenotype 0.400 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: C1844505
Disease: Pointed chin
Pointed chin 		phenotype 0.400 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: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease 0.400 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: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		phenotype 0.400 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: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		disease 0.380 strong 1.000 0 0 2012 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C4229651
Disease: Hypertelorism/telecanthus
Hypertelorism/telecanthus 		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: C4229652
Disease: Eye coloboma (in some patients)
Eye coloboma (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: C4231123
Disease: Retrognathia (in some patients)
Retrognathia (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: C4229653
Disease: Trigonocephaly/metopic ridge
Trigonocephaly/metopic ridge 		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: C4231117
Disease: Pectus (in some patients)
Pectus (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: C4231118
Disease: Kyphosis/scoliosis (in some patients)
Kyphosis/scoliosis (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: C4231120
Disease: Prominent nasal root on profile
Prominent nasal root on profile 		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: C4231121
Disease: Large, squared nose tip
Large, squared nose tip 		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: C4229650
Disease: Pterygium colli (in some patients)
Pterygium colli (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: C4229649
Disease: Heart defect (in some patients)
Heart defect (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: C4012410
Disease: Enlarged ventricles (in some patients)
Enlarged ventricles (in some patients) 		phenotype 0.300 strong 1.000 1 0 1996 1996