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: 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 1 9 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 0 9 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 0 1 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 0 0 1996 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		disease 0.410 None 1.000 0 0 2012 2017
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 0 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 0 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 0 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 0 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		disease 0.400 None 1.000 0 0 2017 2017
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 0 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 0 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 0 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 0 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 0 0 1996 1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0266483
Disease: Pachygyria
Pachygyria 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2014 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 13 1 1990 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 13 1 1990 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0521525
Disease: Short neck
Short neck 		phenotype 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C1839798
Disease: Long nose
Long nose 		phenotype 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		actin gamma 1 0.477 0.846 4.8E-03
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0