B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
Disease: MECKEL SYNDROME, TYPE 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 GeneticVariation disease UNIPROT Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 Biomarker disease GENOMICS_ENGLAND Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 GeneticVariation disease UNIPROT Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
CUI: C3280036
Disease: MECKEL SYNDROME, TYPE 10
MECKEL SYNDROME, TYPE 10 		0.500 Biomarker disease GENOMICS_ENGLAND Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011