ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.760 Biomarker disease HPO
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.760 GeneticVariation disease CLINVAR
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 GeneticVariation disease CLINVAR
CUI: C4225297
Disease: ACHROMATOPSIA 7
ACHROMATOPSIA 7 		0.700 Biomarker disease CTD_human
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.400 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.400 Biomarker phenotype HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		0.100 Biomarker disease HPO
CUI: C0339537
Disease: Cone monochromatism
Cone monochromatism 		0.100 Biomarker disease HPO
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		0.100 Biomarker phenotype HPO
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		0.100 Biomarker disease HPO
CUI: C1288283
Disease: Atrophoderma maculatum
Atrophoderma maculatum 		0.100 Biomarker disease HPO
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy 		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: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		0.100 Biomarker phenotype HPO
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		0.100 Biomarker phenotype HPO