TRIM32, tripartite motif containing 32, 22954

N. diseases: 113; N. variants: 7
Disease: BARDET-BIEDL SYNDROME 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 GeneticVariation disease BEFREE A mutation in the B-box region of TRIM32 has also been shown to result in a more pleiotropic disorder, Bardet-Biedl Syndrome (BBS11). 21496629 2011
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 Biomarker disease BEFREE Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 GeneticVariation disease UNIPROT Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 Biomarker disease GENOMICS_ENGLAND Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 16606853 2006
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 Biomarker disease GENOMICS_ENGLAND Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. 11822024 2002
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 GeneticVariation disease CLINVAR
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 CausalMutation disease CLINVAR
CUI: C1859569
Disease: BARDET-BIEDL SYNDROME 11
BARDET-BIEDL SYNDROME 11 		0.720 Biomarker disease CTD_human