Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1857662
Disease: COACH syndrome
COACH syndrome 		disease 0.710 None 1.000 0 7 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676788
Disease: JOUBERT SYNDROME 9 (disorder)
JOUBERT SYNDROME 9 (disorder) 		disease 0.700 None 1.000 1 41 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C2676790
Disease: MECKEL SYNDROME, TYPE 6 (disorder)
MECKEL SYNDROME, TYPE 6 (disorder) 		disease 0.700 None 1.000 0 23 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		disease 0.430 None 1.000 11 14 2008 2019
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		disease 0.400 None 1.000 0 0 2008 2010
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease 0.170 None 1.000 12 12 2008 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.130 None 1.000 0 0 2008 2012
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 0 0 2012 2012
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 2 2009 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype 0.100 None 1.000 2 1 2016 2019
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype 0.100 None 1.000 2 1 2016 2018
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease 0.100 None 1.000 1 17 2017 2017
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1855284
Disease: Intrahepatic biliary atresia
Intrahepatic biliary atresia 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
Aplasia/Hypoplasia of the cerebellar vermis 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		phenotype 0.100 None 0 0