MACROD2, mono-ADP ribosylhydrolase 2, 140733

N. diseases: 57; N. variants: 47
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: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 4 2015 2019
CUI: C0562350
Disease: Hip circumference
Hip circumference
phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2017 2017
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.020 None 1.000 2 2007 2018
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 59 4 0.010 None < 0.001 1 2019 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 2 2019 2019
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 1 2011 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2013 2013
CUI: C0019693
Disease: HIV Infections
HIV Infections
group Infections; Immune System Diseases Disease or Syndrome 807 142 0.100 None 1.000 1 1 2017 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.100 None 1.000 1 2 2011 2011
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2018 2018
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections
group Infections Disease or Syndrome 384 72 0.100 None 1.000 1 1 2017 2017
CUI: C3495928
Disease: Thyroid associated orbitopathy
Thyroid associated orbitopathy
disease Disease or Syndrome 7 4 0.010 None 1.000 1 1 2016 2016
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
disease Disease or Syndrome 2 4 0.100 None 0 4
CUI: C0424574
Disease: Duration of sleep
Duration of sleep
phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
phenotype Finding 2 3 0.100 None 0 3
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2009 2009
Antiphospholipid antibodies measurement
phenotype Laboratory Procedure 6 8 0.100 None 1.000 1 1 2016 2016
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement
phenotype Laboratory Procedure 14 24 0.100 None 1.000 1 1 2017 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.430 None 1.000 5 4 2010 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.020 None 1.000 2 1 2011 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2018 2018
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.100 None 1.000 1 1 2013 2013