BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
Disease: RETINITIS PIGMENTOSA 74 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 GeneticVariation disease UNIPROT Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840 2015
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 CausalMutation disease CLINVAR
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 GeneticVariation disease CLINVAR
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
RETINITIS PIGMENTOSA 74 		0.700 Biomarker disease CTD_human