Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 Biomarker disease BEFREE RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. 23740938 2013
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 Biomarker disease MGD New mouse primary retinal degeneration (rd-3). 8486383 1993
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 Biomarker disease CTD_human
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 CausalMutation disease CLINVAR
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C1857743
Disease: LEBER CONGENITAL AMAUROSIS 12 (disorder)
LEBER CONGENITAL AMAUROSIS 12 (disorder) 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 GermlineCausalMutation disease ORPHANET Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. 17186464 2006
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		0.600 CausalMutation disease CLINVAR
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		0.200 Biomarker group MGD New mouse primary retinal degeneration (rd-3). 8486383 1993
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		0.110 GeneticVariation disease BEFREE Mutations truncating RD3 cause severe congenital blindness by preventing the inhibitory binding of RD3 to the cyclase. 30559291 2019
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		0.110 Biomarker disease HPO
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		0.100 Biomarker disease HPO