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: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.430 strong 1.000 4 2 1996 2009
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.410 strong 1.000 2 1996 2014
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.410 strong 1.000 2 1996 2014
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.410 None 1.000 2 2012 2017
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.400 strong 1.000 1 1996 1996
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 141 14 0.400 strong 1.000 1 1996 1996
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 71 13 0.400 strong 1.000 1 1996 1996
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.400 strong 1.000 1 1996 1996
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.400 strong 1.000 1 1996 1996
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 148 1 0.400 None 1.000 1 2017 2017
CUI: C0024433
Disease: Macrostomia
Macrostomia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.400 strong 1.000 1 1996 1996
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.400 strong 1.000 1 1996 1996
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure
phenotype Finding 73 10 0.400 strong 1.000 1 1996 1996
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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.330 definitive 1.000 20 2003 2018
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: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 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: 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: C4229650
Disease: Pterygium colli (in some patients)
Pterygium colli (in some patients)
phenotype Finding 1 0.300 strong 1.000 1 1996 1996
CUI: C0265541
Disease: Cranioschisis
Cranioschisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2012 2012
CUI: C4229649
Disease: Heart defect (in some patients)
Heart defect (in some patients)
phenotype Finding 1 0.300 strong 1.000 1 1996 1996