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.
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet
disease Musculoskeletal Diseases Anatomical Abnormality 26 7 0.100 None 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 92 11 0.100 None 0
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia
disease Congenital Abnormality 32 16 0.100 None 0 2
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
disease Congenital Abnormality 6 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 211 25 0.100 None 0
CUI: C0266039
Disease: Taurodontism
Taurodontism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 40 10 0.100 None 0
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: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 11 0.100 None 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality 171 12 0.100 None 0
Streptococcal lymphadenitis of swine
disease Infections; Hemic and Lymphatic Diseases Disease or Syndrome 13 1 0.010 None 1.000 1 2013 2013
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0 1
CUI: C1837464
Disease: Small eyes
Small eyes
phenotype Finding 1 1 0.100 None 0 1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
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
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: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 0.100 None 0 2
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: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 42 19 0.100 None 0 2
CUI: C1849063
Disease: Short iliac bones
Short iliac bones
phenotype Finding 4 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0239399
Disease: Short extremities
Short extremities
phenotype Congenital Abnormality 38 10 0.100 None 0 1
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0