WDR20, WD repeat domain 20, 91833

N. diseases: 77; N. variants: 3
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: C0340369
Disease: Functional mitral regurgitation
Functional mitral regurgitation
disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1855663
Disease: Kaufman oculocerebrofacial syndrome
Kaufman oculocerebrofacial syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 5 6 0.010 None 1.000 1 2016 2016
Uniparental disomy, paternal, chromosome 14
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 7 0.020 None 1.000 2 2012 2016
CUI: C0677608
Disease: Chorioangioma
Chorioangioma
disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2012 2012
CUI: C4015558
Disease: Temple syndrome
Temple syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.010 None 1.000 1 2010 2010
CUI: C0007860
Disease: Uterine Cervicitis
Uterine Cervicitis
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 22 0.010 None 1.000 1 2019 2019
CUI: C2004489
Disease: Regurgitation
Regurgitation
phenotype Sign or Symptom 66 0.010 None 1.000 1 2017 2017
Familial Nonmedullary Thyroid Cancer
disease Neoplasms; Endocrine System Diseases Neoplastic Process 66 2 0.300 None 1.000 1 2017 2017
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 67 6 0.010 None 1.000 1 2014 2014
CUI: C0023474
Disease: Leukemia, Myeloid, Chronic-Phase
Leukemia, Myeloid, Chronic-Phase
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 72 1 0.010 None 1.000 1 2018 2018
CUI: C1821417
Disease: RESTING HEART RATE
RESTING HEART RATE
phenotype Finding 80 134 0.100 None 1.000 1 1 2019 2019
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 84 7 0.010 None 1.000 1 2008 2008
CUI: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.010 None 1.000 1 2017 2017
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 89 3 0.300 None 1.000 1 2017 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.060 None 1.000 6 2008 2020
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.060 None 1.000 6 2003 2018
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2017 2017
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2017 2017
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.010 None 1.000 1 2010 2010
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.010 None 1.000 1 2010 2010
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.010 None < 0.001 1 2013 2013
CUI: C4087504
Disease: Peritoneal dissemination
Peritoneal dissemination
disease Neoplastic Process 170 0.010 None 1.000 1 2018 2018
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
phenotype Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Disease or Syndrome 186 43 0.010 None < 0.001 1 2013 2013
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma
disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2017 2017