CHM, CHM Rab escort protein, 1121

N. diseases: 82; N. variants: 19
Disease: Chorioretinal atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 GeneticVariation disease BEFREE Severe disease presented with widespread chorioretinal atrophy as shown by SW-FAF and spectral-domain OCT. Each of the identified genetic variants in CHM was predicted to be disease-causing according to in silico prediction software. 31181178 2019
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 Biomarker disease HPO
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy 		0.110 GeneticVariation disease CLINVAR