MKKS, McKusick-Kaufman syndrome, 8195

N. diseases: 123; N. variants: 37
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 GeneticVariation disease BEFREE We identified a novel H395R substitution in MKKS/BBS6 that results in a unique phenotype of only RP and polydactyly. 26900326 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 Biomarker disease HPO