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: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 1 0 2003 2017
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 8 0 1997 2017
Entrez Id: 7287
Gene Symbol: TULP1
TULP1
TUB like protein 1 0.623 0.462 5.7E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2000 2001
Entrez Id: 403
Gene Symbol: ARL3
ARL3
ADP ribosylation factor like GTPase 3 0.603 0.615 1.4E-03
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 0 0
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
lecithin retinol acyltransferase 0.608 0.654 2.8E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2008 2011
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
nicotinamide nucleotide adenylyltransferase 1 0.656 0.269 3.5E-02
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2016 2018
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
peripherin 2 0.551 0.500 0.12
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 1985 2002
Entrez Id: 1406
Gene Symbol: CRX
CRX
cone-rod homeobox 0.565 0.692 0.51
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 5 0 1999 2014
Entrez Id: 9497
Gene Symbol: SLC4A7
SLC4A7
solute carrier family 4 member 7 0.716 0.423 0.74
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2003 2005
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 2 0 2013 2015
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
pre-mRNA processing factor 31 0.531 0.731 0.98
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2000 2012
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
pre-mRNA processing factor 8 0.631 0.615 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011
Entrez Id: 9129
Gene Symbol: PRPF3
PRPF3
pre-mRNA processing factor 3 0.695 0.385 1.00
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2011 2011