Source: MGD

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: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0175707
Disease: Asplenia Syndrome
Asplenia Syndrome 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0265357
Disease: Polysplenia Syndrome
Polysplenia Syndrome 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0344692
Disease: Isomerism of atrial appendages
Isomerism of atrial appendages 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876171
Disease: Polyasplenia
Polyasplenia 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876172
Disease: VAH, AUTOSOMAL RECESSIVE
VAH, AUTOSOMAL RECESSIVE 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C1876173
Disease: Heterotaxy, Visceroatrial, Autosomal Recessive
Heterotaxy, Visceroatrial, Autosomal Recessive 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C2910124
Disease: Isomerism of atrial appendages with asplenia or polysplenia
Isomerism of atrial appendages with asplenia or polysplenia 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism 		disease 0.200 None 1.000 2 0 1999 1999
Entrez Id: 2835
Gene Symbol: GPR12
GPR12 		G protein-coupled receptor 12 0.931 0.115 0.36
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 286262
Gene Symbol: TPRN
TPRN 		taperin 0.839 0.115 7.2E-03
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 1 0 2016 2016
Entrez Id: 286262
Gene Symbol: TPRN
TPRN 		taperin 0.839 0.115 7.2E-03
CUI: C2750082
Disease: Deafness, Autosomal Recessive 79
Deafness, Autosomal Recessive 79 		disease 0.810 strong 1.000 1 0 2010 2019
Entrez Id: 345193
Gene Symbol: LRIT3
LRIT3 		leucine rich repeat, Ig-like and transmembrane domains 3 0.716 0.115 2.0E-11
CUI: C3554399
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F 		disease 0.800 None 1.000 1 0 2013 2017
Entrez Id: 440435
Gene Symbol: GPR179
GPR179 		G protein-coupled receptor 179 0.716 0.115 3.2E-27
CUI: C3281215
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E 		disease 0.800 None 1.000 1 0 2012 2012
Entrez Id: 494513
Gene Symbol: PJVK
PJVK 		pejvakin 0.769 0.115 3.7E-08
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 1 0 2006 2006
Entrez Id: 494513
Gene Symbol: PJVK
PJVK 		pejvakin 0.769 0.115 3.7E-08
CUI: C1857744
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 59
DEAFNESS, AUTOSOMAL RECESSIVE 59 		disease 0.900 strong 1.000 1 0 2006 2012
Entrez Id: 51475
Gene Symbol: CABP2
CABP2 		calcium binding protein 2 0.861 0.115 2.5E-03
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 1 0 2017 2017
Entrez Id: 51475
Gene Symbol: CABP2
CABP2 		calcium binding protein 2 0.861 0.115 2.5E-03
CUI: C3888355
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 93
DEAFNESS, AUTOSOMAL RECESSIVE 93 		disease 0.800 strong 1.000 1 0 2012 2017
Entrez Id: 5255
Gene Symbol: PHKA1
PHKA1 		phosphorylase kinase regulatory subunit alpha 1 0.839 0.115 2.1E-07
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group 0.220 None 1.000 1 0 1970 2014
Entrez Id: 5255
Gene Symbol: PHKA1
PHKA1 		phosphorylase kinase regulatory subunit alpha 1 0.839 0.115 2.1E-07
CUI: C1845151
Disease: Glycogen Storage Disease, Type IXD
Glycogen Storage Disease, Type IXD 		disease 0.900 strong 1.000 1 0 1970 2016
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56 		serine protease 56 0.743 0.115 3.4E-04
CUI: C0158543
Disease: Congenital cystic eyeball
Congenital cystic eyeball 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56 		serine protease 56 0.743 0.115 3.4E-04
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56 		serine protease 56 0.743 0.115 3.4E-04
CUI: C3150757
Disease: MICROPHTHALMIA, ISOLATED 6
MICROPHTHALMIA, ISOLATED 6 		disease 0.900 None 1.000 1 0 2011 2018
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56 		serine protease 56 0.743 0.115 3.4E-04
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		disease 0.200 None 1.000 1 0 1999 1999
Entrez Id: 653275
Gene Symbol: CFC1B
CFC1B 		cripto, FRL-1, cryptic family 1B 0.700 0.115
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		disease 0.200 None 1.000 1 0 1999 1999