WDR60, WD repeat domain 60, 55112

N. diseases: 91; N. variants: 12
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: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 29 116 0.620 strong 1.000 4 1 2013 2018
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
disease Disease or Syndrome 1 6 0.600 None 1.000 4 6 2013 2018
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 108 0.400 None 0 4
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.320 strong 1.000 2 2013 2018
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 13 0.310 None 1.000 1 2015 2015
Short rib-polydactyly syndrome, Verma-Naumoff type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 2 0.300 None 1.000 1 2013 2013
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 31 0.300 None 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2008 2008
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2008 2008
CUI: C1395852
Disease: Polydactyly preaxial type 1
Polydactyly preaxial type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 49 0.100 None 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
disease Congenital Abnormality 6 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs
disease Anatomical Abnormality 69 5 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
Absent or minimally ossified vertebral bodies
phenotype Finding 9 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0426789
Disease: Short thorax
Short thorax
phenotype Finding 51 8 0.100 None 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax
phenotype Finding 112 18 0.100 None 0
CUI: C0426805
Disease: Hooked clavicle
Hooked clavicle
phenotype Finding 14 0.100 None 0
CUI: C0426817
Disease: Short ribs
Short ribs
phenotype Finding 60 27 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: C0795690
Disease: Congenital omphalocele
Congenital omphalocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 85 13 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0