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: 221960
Gene Symbol: CCZ1B
CCZ1B
CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated 1.000 0.077 9.0E-13
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 390595
Gene Symbol: UBAP1L
UBAP1L
ubiquitin associated protein 1 like 1.000 0.077 6.0E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
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: 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: 399823
Gene Symbol: FOXI2
FOXI2
forkhead box I2 0.890 0.192 3.0E-04
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 None 1.000 1 0 2017 2017
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: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.640 strong 1.000 0 0 1995 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: 768206
Gene Symbol: PRCD
PRCD
photoreceptor disc component 0.700 0.269 1.6E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.460 strong 1.000 0 0 1998 2016
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.660 strong 1.000 1 0 2007 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: 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: 5148
Gene Symbol: PDE6G
PDE6G
phosphodiesterase 6G 0.695 0.308 1.3E-02
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.720 strong 1.000 0 0 1997 2010
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: 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: 114902
Gene Symbol: C1QTNF5
C1QTNF5
C1q and TNF related 5 0.663 0.346 0.84
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.300 strong 0 0
Entrez Id: 130557
Gene Symbol: ZNF513
ZNF513
zinc finger protein 513 0.691 0.346 0.82
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.310 limited 1.000 0 0 2010 2010
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
aryl hydrocarbon receptor interacting protein like 1 0.644 0.346 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.550 strong 1.000 0 0 2005 2010
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: 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: 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: 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
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease 0.310 strong 1.000 1 0 2014 2014
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