Source: CLINVAR

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: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.190 None 1.000 9 18 1997 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.180 None 1.000 2 4 1993 2019
Entrez Id: 1001
Gene Symbol: CDH3
CDH3
cadherin 3 0.560 0.615 2.8E-10
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.170 None 1.000 1 1 2001 2017
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.160 None 1.000 1 1 2010 2019
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.140 None 1.000 0 1 2011 2017
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.130 None 1.000 0 1 2018 2019
Entrez Id: 3617
Gene Symbol: IMPG1
IMPG1
interphotoreceptor matrix proteoglycan 1 0.722 0.154 1.4E-29
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.120 None 1.000 0 1 1998 2013
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.110 None 1.000 3 6 2004 2018
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
guanylate cyclase activator 1A 0.647 0.500 4.1E-04
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.110 None 1.000 2 2 1998 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.110 None 1.000 1 2 2019 2019
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 9364
Gene Symbol: RAB28
RAB28
RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 2 2 2013 2015
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 152519
Gene Symbol: NIPAL1
NIPAL1
NIPA like domain containing 1 0.760 0.346 2.5E-10
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 1.000 1 1 2008 2008
Entrez Id: 22926
Gene Symbol: ATF6
ATF6
activating transcription factor 6 0.516 0.846 3.2E-07
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 2
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
collagen type XVIII alpha 1 chain 0.449 0.808 1.7E-10
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy
disease 0.100 None 0 1