CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease CTD_human
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease HPO
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.330 Biomarker group GENOMICS_ENGLAND
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 Biomarker disease HPO
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 GeneticVariation disease CLINVAR
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 GeneticVariation disease CLINVAR
CUI: C0235095
Disease: Visual field constriction
Visual field constriction 		0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0521683
Disease: Chorioretinal degeneration
Chorioretinal degeneration 		0.100 Biomarker disease HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.100 Biomarker phenotype HPO
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 Biomarker disease BEFREE Using various probes from the Xq21 region which is known to carry the choroideremia (tapetochoroideal dystrophy, TCD) locus, we have screened the DNAs from eight unrelated male choroidermia patients for microdeletions. 3481306 1987
CUI: C0730291
Disease: Choroidal dystrophy
Choroidal dystrophy 		0.010 Biomarker disease BEFREE Linkage studies using restriction fragment length polymorphisms were conducted in the X-linked disorder, choroideremia, designated TCD for Progressive Tapeto-Choroidal Dystrophy. 2886237 1987
CUI: C0008525
Disease: Choroideremia
Choroideremia 		1.000 GeneticVariation disease BEFREE By Southern blot analysis we have mapped ten different polymorphic DNA loci relative to the position of the deletion and the choroideremia locus TCD. 3422216 1988