Source: CLINVAR

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: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		RPGR interacting protein 1 0.553 0.654 1.3E-23
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.130 None 1.000 0 1 2005 2008
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.110 None 1.000 0 1 2012 2012
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		contactin associated protein 1 0.554 0.577 3.4E-05
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		nuclear receptor subfamily 2 group E member 3 0.603 0.500
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		kinase D interacting substrate 220 0.534 0.769 7.4E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		polycomb group ring finger 2 0.579 0.615 0.86
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1 		ALMS1 centrosome and basal body associated protein 0.559 0.808 4.5E-60
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		steroid 5 alpha-reductase 3 0.604 0.692 2.5E-04
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 8224
Gene Symbol: SYN3
SYN3 		synapsin III 0.686 0.462 1.9E-03
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 55714
Gene Symbol: TENM3
TENM3 		teneurin transmembrane protein 3 0.599 0.692 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		MAGE family member L2 0.560 0.654 0.98
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		vacuolar protein sorting 13 homolog B 0.579 0.769 2.5E-45
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		Bardet-Biedl syndrome 12 0.674 0.462 2.3E-07
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 3
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		elongator acetyltransferase complex subunit 4 0.666 0.462 1.2E-07
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 1