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: 57709
Gene Symbol: SLC7A14
SLC7A14 		solute carrier family 7 member 14 0.695 0.308 2.2E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.320 None 1.000 1 0 2014 2017
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: 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: 60509
Gene Symbol: AGBL5
AGBL5 		ATP/GTP binding protein like 5 0.711 0.269 2.4E-08
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.330 None 0.667 1 0 2015 2019
Entrez Id: 9785
Gene Symbol: DHX38
DHX38 		DEAH-box helicase 38 0.711 0.346 2.1E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.520 None 1.000 1 0 2014 2018
Entrez Id: 55857
Gene Symbol: KIZ
KIZ 		kizuna centrosomal protein 0.722 0.308
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.400 None 1.000 1 0 2014 2014