CHDH, choline dehydrogenase, 55349

N. diseases: 158; N. variants: 11
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: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.020 None 1.000 2 1 2017 2018
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.020 None 1.000 2 2018 2018
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.020 None 1.000 2 2002 2011
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1286 214 0.010 None 1.000 1 2018 2018
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 246 45 0.010 None 1.000 1 1 2009 2009
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.010 None 1.000 1 2005 2005
CUI: C0677660
Disease: Emotional problems
Emotional problems 		phenotype Mental Disorders Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2018 2018
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2011 2011
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2019 2019
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2006 2006
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 147 27 0.010 None 1.000 1 2019 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2004 2004
CUI: C0524911
Disease: Hepatitis D, Chronic
Hepatitis D, Chronic 		disease Digestive System Diseases; Infections Disease or Syndrome 6 2 0.010 None 1.000 1 2017 2017
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 37 12 0.010 None 1.000 1 2018 2018
CUI: C0344622
Disease: Double inlet left ventricle
Double inlet left ventricle 		disease Congenital Abnormality 4 1 0.010 None 1.000 1 2017 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.010 None 1.000 1 2019 2019
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 467 14 0.010 None 1.000 1 2018 2018
CUI: C0302142
Disease: Deformity
Deformity 		group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2001 2001
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.010 None 1.000 1 2014 2014
CUI: C0399352
Disease: Developmental absence of tooth
Developmental absence of tooth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 41 15 0.010 None 1.000 1 2011 2011
CUI: C0265908
Disease: Congenital atresia of pulmonary artery
Congenital atresia of pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 19 5 0.010 None 1.000 1 2019 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2019 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2018 2018
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		disease Digestive System Diseases Disease or Syndrome 210 26 0.010 None 1.000 1 2019 2019