Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.130 Biomarker disease BEFREE Rodent (Crb1, Lrat, Mertk, Rpe65, Rpgrip1), avian (Gucy2D) and canine (Rpe65) models for LCA and profound visual impairment have been successfully corrected employing adeno-associated virus or lentivirus-based gene therapy. 18632300 2008
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.130 GeneticVariation disease BEFREE Mutations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent the most common genetic causes of congenital visual impairment in infants and children. 16806805 2006
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.130 GeneticVariation disease BEFREE Younger patients with an AIPL1 or RPGRIP1 variation were found to have severely reduced vision. 16205573 2005
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.130 GeneticVariation disease CLINVAR
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.110 GeneticVariation disease BEFREE Haplo-insufficiency at the paired box gene 6 (PAX6) locus causes aniridia,which is characterized by iris hypoplasia and other anterior and posterior eye defects leading to poor vision. 22815628 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		0.100 CausalMutation disease CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624 2014
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 55714
Gene Symbol: TENM3
TENM3 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10002
Gene Symbol: NR2E3
NR2E3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 166379
Gene Symbol: BBS12
BBS12 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8224
Gene Symbol: SYN3
SYN3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 GeneticVariation disease CLINVAR