ACACA, acetyl-CoA carboxylase alpha, 31

N. diseases: 227; N. variants: 14
Source: BEFREE ×
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: C1331548
Disease: Infection by Ascaris lumbricoides
Infection by Ascaris lumbricoides 		disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0795950
Disease: Corpus callosum agenesis neuronopathy
Corpus callosum agenesis neuronopathy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.020 None 1.000 2 2007 2008
CUI: C1456332
Disease: Stimulant abuse
Stimulant abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 3 1 0.010 None < 0.001 1 2018 2018
CUI: C0278139
Disease: Moderate pain
Moderate pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 6 1 0.010 None 1.000 1 2017 2017
CUI: C1332167
Disease: Adenoid cystic breast carcinoma
Adenoid cystic breast carcinoma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 12 1 0.010 None 1.000 1 2015 2015
CUI: C0334342
Disease: Skin appendage adenoma
Skin appendage adenoma 		disease Neoplasms Neoplastic Process 13 2 0.010 None 1.000 1 2018 2018
CUI: C0040954
Disease: Infection by Trichuris trichiura
Infection by Trichuris trichiura 		disease Infections Disease or Syndrome 15 0.010 None 1.000 1 2017 2017
CUI: C0233477
Disease: Dysphoric mood
Dysphoric mood 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 19 6 0.010 None 1.000 1 2018 2018
CUI: C0266574
Disease: Ablepharon
Ablepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 19 1 0.010 None 1.000 1 2018 2018
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 21 5 0.010 None 1.000 1 1 2004 2004
CUI: C0026265
Disease: Diseases of mitral valve
Diseases of mitral valve 		group Cardiovascular Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C1443237
Disease: Healthcare associated pneumonia
Healthcare associated pneumonia 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 1999 1999
CUI: C1266086
Disease: Polymorphous low grade adenocarcinoma
Polymorphous low grade adenocarcinoma 		disease Neoplastic Process 23 1 0.010 None 1.000 1 2011 2011
CUI: C3544321
Disease: Treatment-resistant schizophrenia
Treatment-resistant schizophrenia 		disease Mental or Behavioral Dysfunction 23 2 0.010 None 1.000 1 2019 2019
CUI: C0949083
Disease: Hospital acquired pneumonia
Hospital acquired pneumonia 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 1999 1999
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 25 4 0.010 None 1.000 1 2019 2019
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 25 4 0.010 None 1.000 1 2019 2019
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 33 1 0.020 None 1.000 2 1995 1997
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 33 7 0.010 None 1.000 1 2017 2017
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 5 0.010 None 1.000 1 1987 1987
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 36 20 0.010 None 1.000 1 2004 2004
CUI: C1696708
Disease: Prehypertension
Prehypertension 		disease Cardiovascular Diseases Disease or Syndrome 37 5 0.010 None 1.000 1 2019 2019
CUI: C0333693
Disease: Triploidy syndrome
Triploidy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 42 0.010 None 1.000 1 2008 2008
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2019 2019