B9D2, B9 domain containing 2, 80776

N. diseases: 66; N. variants: 13
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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 GeneticVariation disease BEFREE We identified presumed causal variants in 62% of pedigrees, including the first B9D2 mutations associated with JS. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease GENOMICS_ENGLAND We identified presumed causal variants in 62% of pedigrees, including the first B9D2 mutations associated with JS. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 CausalMutation disease CLINVAR We identified presumed causal variants in 62% of pedigrees, including the first B9D2 mutations associated with JS. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 Biomarker disease GENOMICS_ENGLAND Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.410 GeneticVariation disease CLINVAR
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE Our data validates the causation of MKS by pathogenic variation in B9D2 and TXNDC15 and also adds novel variants in CC2D2A, CEP290 and TMEM67 to the literature. 31411728 2019
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 Biomarker disease GENOMICS_ENGLAND We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. 21763481 2011
CUI: C3714506
Disease: Meckel syndrome type 1
Meckel syndrome type 1 		0.320 GeneticVariation disease BEFREE We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. 21763481 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.300 GermlineCausalMutation disease ORPHANET Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND Disruption of a ciliary B9 protein complex causes Meckel syndrome. 21763481 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.100 Biomarker disease HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO