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: 8481
Gene Symbol: OFD1
OFD1
OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.510 strong 1.000 1 0 2012 2019
Entrez Id: 3419
Gene Symbol: IDH3A
IDH3A
isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha 0.705 0.385 0.16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.510 strong 1.000 1 0 2017 2018
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
retinol binding protein 3 0.621 0.500 1.1E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 strong 1.000 1 0 1990 2015
Entrez Id: 55812
Gene Symbol: SPATA7
SPATA7
spermatogenesis associated 7 0.656 0.385 5.2E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.650 strong 1.000 1 0 2009 2018
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
retinitis pigmentosa GTPase regulator 0.536 0.692 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 strong 1.000 0 0 1995 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2
RP2 activator of ARL3 GTPase 0.670 0.346 0.96
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 0 0 1999 2019