ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 205; N. variants: 17
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: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		disease Digestive System Diseases Disease or Syndrome 10 19 0.750 None 0.917 12 15 2012 2020
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 9 3 0.660 strong 1.000 6 2 2014 2017
CUI: C0266833
Disease: Visceral Myopathy, Familial
Visceral Myopathy, Familial 		disease Digestive System Diseases Disease or Syndrome 2 1 0.520 None 1.000 2 1 2012 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.300 None 1.000 1 2004 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.300 None 1.000 1 2004 2004
CUI: C1835084
Disease: Megaduodenum and-or Megacystis
Megaduodenum and-or Megacystis 		disease Digestive System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C0238062
Disease: Chronic intestinal pseudo-obstruction
Chronic intestinal pseudo-obstruction 		disease Digestive System Diseases Disease or Syndrome 17 10 0.130 None 1.000 6 5 2014 2018
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.110 None 1.000 1 1993 1993
CUI: C0021847
Disease: Intestinal Pseudo-Obstruction
Intestinal Pseudo-Obstruction 		disease Digestive System Diseases Disease or Syndrome 32 5 0.110 None 1.000 1 2015 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.100 None 1.000 20 1996 2019
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 1.000 15 1990 2020
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 7 1 2009 2017
CUI: C1855311
Disease: Megacystis
Megacystis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 8 3 0.100 None 1.000 4 2 2014 2016
CUI: C0549253
Disease: Dilatation of the bladder
Dilatation of the bladder 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Finding 3 1 0.100 None 1.000 1 1 2016 2016
CUI: C0232475
Disease: Decreased peristalsis
Decreased peristalsis 		phenotype Finding 6 2 0.100 None 1.000 1 1 2016 2016
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0018809
Disease: Heart Neoplasm
Heart Neoplasm 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 17 0.100 None 0
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C0221210
Disease: Congenital malrotation of intestine
Congenital malrotation of intestine 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 77 5 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 17 4 0.100 None 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 384 162 0.100 None 0
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 257 11 0.100 None 0
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 138 6 0.100 None 0