EVC2, EvC ciliary complex subunit 2, 132884

N. diseases: 106; N. variants: 75
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: 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 1.000 definitive 1.000 30 63 2002 2018
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 21 0.740 None 1.000 8 12 2006 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.310 None 1.000 1 2016 2016
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.110 None 1.000 1 2009 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 1.000 1 1 2019 2019
CUI: C2239222
Disease: Vascular Endothelial Growth Factor Measurement
Vascular Endothelial Growth Factor Measurement 		phenotype Laboratory Procedure 12 46 0.100 None 1.000 1 1 2019 2019
CUI: C1446712
Disease: Overlapping fingers
Overlapping fingers 		disease Acquired Abnormality 27 2 0.100 None 0
CUI: C1834405
Disease: Nail dysplasia
Nail dysplasia 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 78 2 0.100 None 0
CUI: C1836193
Disease: Synostosis of carpal bones
Synostosis of carpal bones 		phenotype Finding 23 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 20 3 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		phenotype Finding 85 3 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		phenotype Finding 42 1 0.100 None 0
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 366 80 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: 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: C0432198
Disease: Short rib-polydactyly syndrome, Beemer type
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: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0