Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Night blindness, congenital stationary
0.730 Biomarker disease GENOMICS_ENGLAND
Night blindness, congenital stationary
0.730 Biomarker disease HPO
Night blindness, congenital stationary
0.730 Biomarker disease CTD_human
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.700 Biomarker disease GENOMICS_ENGLAND
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.700 Biomarker disease GENOMICS_ENGLAND
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.700 CausalMutation disease CLINVAR
Night Blindness, Congenital Stationary, Autosomal Dominant 3
0.700 Biomarker disease CTD_human
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
0.600 CausalMutation disease CLINVAR
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
0.600 Biomarker disease 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
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
0.300 Biomarker disease CTD_human
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
0.300 Biomarker disease CTD_human
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)
0.300 Biomarker disease CTD_human
Night Blindness, Congenital Stationary, Type 1A
0.300 Biomarker disease CTD_human
Night blindness, congenital stationary, type 1
0.300 Biomarker disease CTD_human
CUI: C3711543
Disease: X-Linked Csnb
X-Linked Csnb
0.300 Biomarker disease CTD_human
Cone-rod synaptic disorder, congenital nonprogressive
0.300 Biomarker disease CTD_human
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness
0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
0.100 Biomarker phenotype HPO