WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
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: C3279792
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 		disease Disease or Syndrome; Congenital Abnormality 1 13 0.920 None 1.000 11 13 2007 2018
CUI: C4747658
Disease: SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 		disease Disease or Syndrome 1 1 0.600 None 1.000 2 1 2007 2011
CUI: C0340031
Disease: Mucociliary clearance defect
Mucociliary clearance defect 		disease Respiratory Tract Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C0740850
Disease: airway disease restrictive
airway disease restrictive 		disease Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C4694035
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		disease Disease or Syndrome 2 17 0.600 None 1.000 9 16 2010 2018
CUI: C1401781
Disease: Short uvula
Short uvula 		phenotype Finding 3 2 0.100 None 0
CUI: C0266647
Disease: Congenital anomalies of fetus
Congenital anomalies of fetus 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 4 0.010 None 1.000 1 2019 2019
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 4 1 0.100 None 0
CUI: C0432195
Disease: Short rib dysplasia
Short rib dysplasia 		disease Musculoskeletal Diseases; Respiratory Tract Diseases Congenital Abnormality 5 0.200 None 1.000 1 2011 2011
CUI: C2910340
Disease: Asphyxiating thoracic dysplasia [Jeune]
Asphyxiating thoracic dysplasia [Jeune] 		disease Disease or Syndrome 5 0.200 None 1.000 1 2011 2011
CUI: C0432197
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type
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 2 2011 2012
CUI: C0269133
Disease: Urethrovaginal fistula
Urethrovaginal fistula 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 6 0.100 None 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		phenotype Finding 6 1 0.100 None 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia 		disease Congenital Abnormality 6 0.100 None 0
CUI: C4021525
Disease: Abnormal pelvis bone ossification
Abnormal pelvis bone ossification 		disease Anatomical Abnormality 7 0.100 None 0
CUI: C0339864
Disease: Bifid epiglottis
Bifid epiglottis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 8 1 0.100 None 0
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		phenotype Finding 8 0.100 None 0
CUI: C0266393
Disease: Congenital duplication of uterus
Congenital duplication of uterus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 9 0.100 None 0
CUI: C1832983
Disease: Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies 		phenotype Finding 9 0.100 None 0
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 0.690 None 1.000 11 1 2010 2019
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 0.190 None 1.000 11 9 2010 2019
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 11 121 0.040 None 1.000 4 2015 2019
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		disease Anatomical Abnormality 11 0.100 None 0
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0