Source: ORPHANET

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: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.800 None 1.000 2 0 1997 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.480 None 1.000 1 0 2009 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.400 None 1.000 3 0 1998 2017
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D
guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.400 None 1.000 2 0 1998 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.390 None 1.000 2 0 2002 2019
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
guanylate cyclase activator 1A 0.647 0.500 4.1E-04
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.370 None 1.000 2 0 2001 2019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.350 None 1.000 2 0 2003 2018
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
chromosome 8 open reading frame 37 0.628 0.538 2.4E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.350 None 1.000 1 0 2012 2016
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
cadherin related family member 1 0.670 0.308 2.8E-21
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.350 None 1.000 1 0 2010 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.340 None 1.000 2 0 1996 2016
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
regulating synaptic membrane exocytosis 1 0.700 0.231 0.99
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.340 None 1.000 1 0 2003 2008
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.340 None 1.000 1 0 2013 2016
Entrez Id: 282809
Gene Symbol: POC1B
POC1B
POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.330 None 1.000 1 0 2014 2018
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.330 None 1.000 1 0 2000 2015
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.330 None 1.000 1 0 2014 2018
Entrez Id: 8754
Gene Symbol: ADAM9
ADAM9
ADAM metallopeptidase domain 9 0.560 0.654 2.9E-02
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.330 None 1.000 1 0 2009 2014
Entrez Id: 83394
Gene Symbol: PITPNM3
PITPNM3
PITPNM family member 3 0.705 0.385 1.00
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.320 None 0.667 1 0 2000 2010
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.320 None 1.000 1 0 2015 2019
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.310 None 1.000 2 0 2006 2016
Entrez Id: 9094
Gene Symbol: UNC119
UNC119
unc-119 lipid binding chaperone 0.691 0.462 1.5E-04
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.310 None 1.000 2 0 2000 2016
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
semaphorin 4A 0.569 0.692 1.8E-05
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.310 None 1.000 1 0 2006 2006
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.310 None 1.000 1 0 2013 2016
Entrez Id: 84839
Gene Symbol: RAX2
RAX2
retina and anterior neural fold homeobox 2 0.780 0.192 8.3E-03
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.300 None 1.000 2 0 2004 2015
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4 0.716 0.269 1.5E-34
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.300 None 1.000 1 0 2006 2006
Entrez Id: 128338
Gene Symbol: DRAM2
DRAM2
DNA damage regulated autophagy modulator 2 0.729 0.462 1.4E-04
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease 0.300 None 1.000 1 0 2015 2015