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: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity 		disease Anatomical Abnormality 29 0.100 None 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Finding 42 1 0.100 None 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4023170
Disease: Abnormal oral mucosa morphology
Abnormal oral mucosa morphology 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		disease Anatomical Abnormality 31 0.100 None 0
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		phenotype Finding 5 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2 2019 2019
CUI: C0341007
Disease: Alveolar ridge abnormality
Alveolar ridge abnormality 		disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.100 None 0
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		phenotype Finding 29 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 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: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C1857002
Disease: Capitate-hamate fusion
Capitate-hamate fusion 		phenotype Finding 8 0.100 None 0
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.010 None 1.000 1 2011 2011
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: C0685787
Disease: Cleft face
Cleft face 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 23 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.010 None 1.000 1 2010 2010
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.010 None 1.000 1 2010 2010
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease Congenital Abnormality 284 39 0.100 None 0