BBS7, Bardet-Biedl syndrome 7, 55212

N. diseases: 47; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 CausalMutation disease CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167 2015
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 GeneticVariation disease CLINVAR
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859565
Disease: BARDET-BIEDL SYNDROME 7
BARDET-BIEDL SYNDROME 7 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.200 GeneticVariation disease BEFREE BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. 31521835 2020