ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 10 0.700 strong 1.000 8 10 1996 2014
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		disease Disease or Syndrome 1 9 0.700 definitive 1.000 5 9 1996 2016
CUI: C0240583
Disease: Short upturned nose
Short upturned nose 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C1970280
Disease: Hearing loss begins with loss of high frequencies
Hearing loss begins with loss of high frequencies 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C1970281
Disease: Audiogram shows sloping configuration
Audiogram shows sloping configuration 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C1970282
Disease: Deafness, profound, by 6th decade
Deafness, profound, by 6th decade 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C3279369
Disease: Microphthalmia (in some patients)
Microphthalmia (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C3549665
Disease: Deafness (in some patients)
Deafness (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C3808883
Disease: Short neck (in some patients)
Short neck (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4012410
Disease: Enlarged ventricles (in some patients)
Enlarged ventricles (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4229649
Disease: Heart defect (in some patients)
Heart defect (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4229650
Disease: Pterygium colli (in some patients)
Pterygium colli (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4229651
Disease: Hypertelorism/telecanthus
Hypertelorism/telecanthus 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4229652
Disease: Eye coloboma (in some patients)
Eye coloboma (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4229653
Disease: Trigonocephaly/metopic ridge
Trigonocephaly/metopic ridge 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231117
Disease: Pectus (in some patients)
Pectus (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231118
Disease: Kyphosis/scoliosis (in some patients)
Kyphosis/scoliosis (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231120
Disease: Prominent nasal root on profile
Prominent nasal root on profile 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231121
Disease: Large, squared nose tip
Large, squared nose tip 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231123
Disease: Retrognathia (in some patients)
Retrognathia (in some patients) 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C4231124
Disease: Prominent/full/wide cheeks
Prominent/full/wide cheeks 		phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C1837819
Disease: Cerebrofrontofacial Syndrome
Cerebrofrontofacial Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.030 None 1.000 3 2015 2016
CUI: C1853623
Disease: Fryns-Aftimos Syndrome
Fryns-Aftimos Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 1 0.380 strong 1.000 8 2012 2017
CUI: C1855722
Disease: Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 30 0.300 None 1.000 1 2012 2012
CUI: C4708599
Disease: Coloboma of choroid and retina
Coloboma of choroid and retina 		disease Congenital Abnormality 5 0.300 None 1.000 1 2017 2017