WDR19, WD repeat domain 19, 57728

N. diseases: 143; N. variants: 31
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.
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
disease Disease or Syndrome 1 5 0.600 None 1.000 8 5 2010 2017
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13
disease Disease or Syndrome 1 6 0.610 None 1.000 6 6 2011 2016
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8
disease Disease or Syndrome 1 15 0.600 strong 1.000 6 15 2011 2017
CUI: C1837464
Disease: Small eyes
Small eyes
phenotype Finding 1 1 0.100 None 0 1
CUI: C3280616
Disease: CRANIOECTODERMAL DYSPLASIA 4
CRANIOECTODERMAL DYSPLASIA 4
disease Disease or Syndrome 2 2 0.600 None 1.000 3 2 2010 2014
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys
phenotype Finding 3 2 0.100 None 0 1
CUI: C1849063
Disease: Short iliac bones
Short iliac bones
phenotype Finding 4 0.100 None 0
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 20 0.010 None 1.000 1 2018 2018
Short rib-polydactyly syndrome, Beemer type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 8 0.100 None 0 2
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
disease Congenital Abnormality 6 0.100 None 0
CUI: C0162510
Disease: Caroli Disease
Caroli Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome; Congenital Abnormality 8 1 0.120 None 1.000 2 1 2013 2015
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 10 12 0.630 None 1.000 4 2011 2018
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger
phenotype Finding 10 0.100 None 0
CUI: C4551571
Disease: Cranioectodermal dysplasia
Cranioectodermal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 22 0.130 None 1.000 3 4 2011 2018
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology
disease Anatomical Abnormality 11 0.100 None 0
CUI: C0085653
Disease: Pyogenic granuloma
Pyogenic granuloma
disease Pathological Conditions, Signs and Symptoms Neoplastic Process 13 4 0.010 None 1.000 1 2004 2004
Streptococcal lymphadenitis of swine
disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2013 2013
CUI: C2699746
Disease: Syndactyly, type 2
Syndactyly, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 12 0.100 None 0 1
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile
disease Disease or Syndrome 17 0.300 None 1.000 1 2011 2011
CUI: C4023986
Disease: Broad phalanx of the toes
Broad phalanx of the toes
phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C0238304
Disease: Chronic interstitial nephritis
Chronic interstitial nephritis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C1512508
Disease: Human herpesvirus 8 infection
Human herpesvirus 8 infection
disease Infections; Immune System Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2003 2003
Renal dysplasia and retinal aplasia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.520 strong 1.000 2 2013 2014
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 28 0.010 None 1.000 1 2013 2013
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
disease Anatomical Abnormality 22 1 0.100 None 0