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: 388531
Gene Symbol: RGS9BP
RGS9BP
regulator of G protein signaling 9 binding protein 0.931 2.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 169522
Gene Symbol: KCNV2
KCNV2
potassium voltage-gated channel modifier subfamily V member 2 0.736 0.115 1.2E-26
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 0 0 2013 2013
Entrez Id: 345193
Gene Symbol: LRIT3
LRIT3
leucine rich repeat, Ig-like and transmembrane domains 3 0.716 0.115 2.0E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 440435
Gene Symbol: GPR179
GPR179
G protein-coupled receptor 179 0.716 0.115 3.2E-27
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
cyclic nucleotide gated channel subunit alpha 3 0.650 0.154 8.0E-20
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 None 1.000 1 0 2014 2017
Entrez Id: 57010
Gene Symbol: CABP4
CABP4
calcium binding protein 4 0.711 0.154 1.7E-10
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 9187
Gene Symbol: SLC24A1
SLC24A1
solute carrier family 24 member 1 0.716 0.154 9.2E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3
cyclic nucleotide gated channel subunit beta 3 0.633 0.192 7.8E-19
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 60506
Gene Symbol: NYX
NYX
nyctalopin 0.678 0.192 0.13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.310 limited 1.000 0 0 2013 2013
Entrez Id: 84839
Gene Symbol: RAX2
RAX2
retina and anterior neural fold homeobox 2 0.780 0.192 8.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
regulating synaptic membrane exocytosis 1 0.700 0.231 0.99
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 256471
Gene Symbol: MFSD8
MFSD8
major facilitator superfamily domain containing 8 0.682 0.231 2.5E-12
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2
G protein subunit alpha transducin 2 0.674 0.231 7.0E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CLN6 transmembrane ER protein 0.670 0.231 1.0E-04
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H
phosphodiesterase 6H 0.700 0.269 8.3E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 1 0 2015 2015
Entrez Id: 1203
Gene Symbol: CLN5
CLN5
CLN5 intracellular trafficking protein 0.705 0.269 1.7E-08
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 1259
Gene Symbol: CNGA1
CNGA1
cyclic nucleotide gated channel subunit alpha 1 0.695 0.269 2.8E-11
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
lebercilin LCA5 0.674 0.269 4.1E-05
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
phosphodiesterase 6A 0.691 0.269 6.6E-25
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 5146
Gene Symbol: PDE6C
PDE6C
phosphodiesterase 6C 0.700 0.269 2.3E-16
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 768206
Gene Symbol: PRCD
PRCD
photoreceptor disc component 0.700 0.269 1.6E-02
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 0 0
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A
transmembrane protein 126A 0.805 0.269 2.2E-03
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 93589
Gene Symbol: CACNA2D4
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4 0.716 0.269 1.5E-34
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0
Entrez Id: 145226
Gene Symbol: RDH12
RDH12
retinol dehydrogenase 12 0.650 0.308 2.3E-09
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 None 1.000 2 0 2011 2019
Entrez Id: 2779
Gene Symbol: GNAT1
GNAT1
G protein subunit alpha transducin 1 0.666 0.308 9.9E-13
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group 0.300 limited 0 0