Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.100 Biomarker phenotype HPO
CUI: C1705500
Disease: Flasher - visual manifestation
Flasher - visual manifestation 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C3887875
Disease: Visual field defects
Visual field defects 		0.100 Biomarker group HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		0.100 Biomarker phenotype HPO
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 GeneticVariation disease UNIPROT Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration. 28132693 2017
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 Biomarker disease CTD_human
CUI: C4479481
Disease: RETINITIS PIGMENTOSA 78
RETINITIS PIGMENTOSA 78 		0.700 CausalMutation disease CLINVAR