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: 49855
Gene Symbol: SCAPER
SCAPER
S-phase cyclin A associated protein in the ER 0.653 0.500 8.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.410 None 1.000 1 0 2017 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: 23370
Gene Symbol: ARHGEF18
ARHGEF18
Rho/Rac guanine nucleotide exchange factor 18 0.700 0.308 1.8E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 196
Gene Symbol: AHR
AHR
aryl hydrocarbon receptor 0.410 0.923 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.310 None 1.000 1 0 2018 2018
Entrez Id: 57670
Gene Symbol: KIAA1549
KIAA1549
KIAA1549 0.615 0.346 0.99
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8100
Gene Symbol: IFT88
IFT88
intraflagellar transport 88 0.621 0.654 7.1E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2018 2018