Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4
0.600 Biomarker disease CTD_human
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4
0.600 CausalMutation disease CLINVAR
CUI: C1864849
Disease: RETINAL CONE DYSTROPHY 4
RETINAL CONE DYSTROPHY 4
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
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.110 Biomarker disease HPO
CUI: C0009398
Disease: Color vision defect
Color vision defect
0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
0.100 Biomarker phenotype HPO
CUI: C0271183
Disease: Severe myopia
Severe myopia
0.100 Biomarker disease HPO
CUI: C1298695
Disease: Hypoplasia of optic disc
Hypoplasia of optic disc
0.100 Biomarker disease HPO
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling
0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment
0.100 Biomarker phenotype HPO
CUI: C4021561
Disease: Electronegative electroretinogram
Electronegative electroretinogram
0.100 Biomarker phenotype HPO
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation
0.100 Biomarker disease HPO
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype HPO
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection
0.020 Biomarker disease BEFREE The authors investigated here the ability of rCD4 to inhibit HIV-1 infection of peripheral blood macrophages. 1762833 1991
CUI: C0019693
Disease: HIV Infections
HIV Infections
0.010 Biomarker group BEFREE Purified recombinant soluble CD4 (rCD 4) is a new antiviral agent which has been shown to block HIV infection of lymphocytic and monocytic cell lines as well as peripheral blood mononuclear cells. 1762833 1991
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
0.300 GermlineCausalMutation disease ORPHANET Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. 17033974 2006