Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 CausalMutation disease CLINVAR
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease CTD_human
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.200 Biomarker disease MGD
Entrez Id: 285331
Gene Symbol: CCDC66
CCDC66 		0.200 Biomarker disease MGD
Entrez Id: 10283
Gene Symbol: CWC27
CWC27 		0.200 Biomarker disease MGD
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.200 Biomarker disease MGD
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.200 Biomarker disease MGD
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		0.200 Biomarker disease MGD
Entrez Id: 6533
Gene Symbol: SLC6A6
SLC6A6 		0.200 Biomarker disease MGD
Entrez Id: 286204
Gene Symbol: CRB2
CRB2 		0.200 Biomarker disease MGD
Entrez Id: 5148
Gene Symbol: PDE6G
PDE6G 		0.200 Biomarker disease MGD
Entrez Id: 11190
Gene Symbol: CEP250
CEP250 		0.200 Biomarker disease MGD
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 25088982 2014
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT A novel missense RP1 mutation in retinitis pigmentosa. 15933747 2006
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.200 Biomarker disease RGD Alterations in NMDA receptor expression during retinal degeneration in the RCS rat. 11925013 2002
Entrez Id: 4502
Gene Symbol: MT2A
MT2A 		0.200 Biomarker disease RGD Altered expression of metallothionein-I and -II and their receptor megalin in inherited photoreceptor degeneration. 20357188 2010
Entrez Id: 5327
Gene Symbol: PLAT
PLAT 		0.010 Biomarker disease BEFREE Based on linkage data from the CEPH (Paris) reference families and physical mapping information from a somatic cell hybrid panel of chromosome 8 fragments, the most likely order for four of these five loci and the diseases locus is 8pter-LPL-D8S5-D8S87-PLAT-RP1. 1783394 1991
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Differential pattern of RP1 mutations in retinitis pigmentosa. 20664799 2010
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD Disruption of the Rp1 gene in mice causes misorientation of outer segment discs, suggesting a role for RP1 in outer segment organization. 15269252 2004
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.200 ModifyingMutation disease RGD ER stress in retinal degeneration in S334ter Rho rats. 22432009 2012
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. 19657028 2009
Entrez Id: 3614
Gene Symbol: IMPDH1
IMPDH1 		0.010 Biomarker disease BEFREE However, no disease-causing changes were observed in RP1 and IMPDH1. 18552984 2008
Entrez Id: 23092
Gene Symbol: ARHGAP26
ARHGAP26 		0.010 Biomarker disease BEFREE Immunohistochemistry analysis revealed that Myo1d, ARHGAP26, and RP1 were specifically expressed in the subendothelial region of constricted DAs; however, diffuse expression of these proteins was noted in the patent group. 25915513 2015
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Therapeutic disease RGD Inhibitory peptide of mitochondrial μ-calpain protects against photoreceptor degeneration in rhodopsin transgenic S334ter and P23H rats. 23951212 2013