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: 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: 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: 343035
Gene Symbol: RD3
RD3
retinal degeneration 3, GUCY2D regulator 0.700 0.308 2.6E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 1993 1993
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2014 2014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2004 2017
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2000 2013
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 3 0 1992 2016
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: 25794
Gene Symbol: FSCN2
FSCN2
fascin actin-bundling protein 2, retinal 0.682 0.346 3.8E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2005 2005
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2015 2015
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: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2015 2015
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
Entrez Id: 92840
Gene Symbol: REEP6
REEP6
receptor accessory protein 6 0.670 0.385 1.7E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 1 0 2016 2016
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 9 0 1956 2017
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 3 0 2009 2017
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: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 4 0 2002 2014
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: 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: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 3 0 2000 2014
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.500 definitive 1.000 5 0 2001 2014
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: 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: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 3 0 2003 2017