Source: GENOMICS_ENGLAND

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: 149647
Gene Symbol: FAM71A
FAM71A
family with sequence similarity 71 member A 1.000 0.077
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3
nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.480 strong 1.000 0 0 2007 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 1.000 0 0 1998 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 0 0 1998 2019
Entrez Id: 346007
Gene Symbol: EYS
EYS
eyes shut homolog 0.631 0.538 3.7E-41
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.974 0 0 2005 2019
Entrez Id: 1258
Gene Symbol: CNGB1
CNGB1
cyclic nucleotide gated channel subunit beta 1 0.628 0.538 1.8E-37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 0 0 2001 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 0 0 1992 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.900 strong 1.000 0 0 1995 2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
ceramide kinase like 0.678 0.308 9.8E-25
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.490 strong 1.000 0 0 2004 2019
Entrez Id: 9696
Gene Symbol: CROCC
CROCC
ciliary rootlet coiled-coil, rootletin 0.751 0.269 1.3E-24
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.680 strong 1.000 0 0 2004 2017
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
prominin 1 0.410 0.846 1.9E-22
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 1.000 0 0 2007 2017
Entrez Id: 10004
Gene Symbol: NAALADL1
NAALADL1
N-acetylated alpha-linked acidic dipeptidase like 1 0.839 0.192 1.8E-21
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 4117
Gene Symbol: MAK
MAK
male germ cell associated kinase 0.695 0.346 8.6E-19
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.470 strong 1.000 1 0 2010 2018
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.440 strong 1.000 0 0 2010 2015
Entrez Id: 6295
Gene Symbol: SAG
SAG
S-antigen visual arrestin 0.570 0.731 1.5E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.650 strong 1.000 0 0 1985 2018
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
crumbs cell polarity complex component 1 0.570 0.654 5.6E-16
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.700 strong 0.970 0 0 1999 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.800 moderate 1.000 0 0 1998 2019
Entrez Id: 84255
Gene Symbol: SLC37A3
SLC37A3
solute carrier family 37 member 3 1.000 0.077 1.1E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 56952
Gene Symbol: PRTFDC1
PRTFDC1
phosphoribosyl transferase domain containing 1 0.805 0.385 2.4E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
interphotoreceptor matrix proteoglycan 2 0.659 0.308 2.8E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.420 strong 1.000 0 0 2010 2014
Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2
fascin actin-bundling protein 2, retinal 0.682 0.346 3.8E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.320 limited 1.000 0 0 2003 2008
Entrez Id: 6101
Gene Symbol: RP1
RP1
RP1 axonemal microtubule associated 0.663 0.462 4.4E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 1.000 1 0 1999 2015
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A
FAM161 centrosomal protein A 0.691 0.308 5.1E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.500 strong 0.938 0 0 2004 2019
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 0 0 2009 2018