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: C3808986
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA 		disease Disease or Syndrome 2 4 0.100 None 0 4
CUI: C4016902
Disease: HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO 		phenotype Finding 2 3 0.100 None 0 3
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: 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: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 4 2015 2019
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: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 2 3 2018 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
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: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		group Mental Disorders Mental or Behavioral Dysfunction 328 49 0.010 None 1.000 1 1 2011 2011
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 185 20 0.300 None 1.000 1 2010 2010
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2018 2018
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 4 2018 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2018 2018
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.300 None 1.000 1 2016 2016
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		phenotype Diagnostic Procedure 39 98 0.100 None 1.000 1 1 2011 2011
CUI: C0424574
Disease: Duration of sleep
Duration of sleep 		phenotype Finding 104 203 0.100 None 1.000 1 1 2019 2019
CUI: C0562350
Disease: Hip circumference
Hip circumference 		phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2017 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.100 None 1.000 1 1 2019 2019
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2018 2018
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2018 2018
CUI: C3495928
Disease: Thyroid associated orbitopathy
Thyroid associated orbitopathy 		disease Disease or Syndrome 7 4 0.010 None 1.000 1 1 2016 2016
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7 		disease Neoplastic Process 42 3 0.010 None 1.000 1 2018 2018