Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.400 Biomarker group GENOMICS_ENGLAND Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.400 GeneticVariation group CLINVAR
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5 		0.310 GeneticVariation group BEFREE Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. 26395458 2015
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5 		0.310 Biomarker group GENOMICS_ENGLAND Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. 23680354 2013
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.310 Biomarker group GENOMICS_ENGLAND Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. 22034641 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.310 GeneticVariation group BEFREE The associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip OA and LDD, making it a candidate for degenerative connective tissue diseases. 21159828 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.310 Biomarker group GENOMICS_ENGLAND Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2). 12244547 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.310 GeneticVariation group BEFREE Several reports exist of the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and Marfan syndrome, including a report of ADPKD and "overlap" connective tissue disorder in a family with linkage to the PKD1 locus. 10739800 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.310 Biomarker group GENOMICS_ENGLAND
Entrez Id: 7177
Gene Symbol: TPSAB1
TPSAB1 		0.300 Biomarker group CTD_human Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. 27749843 2016
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		0.300 Biomarker group GENOMICS_ENGLAND Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		0.300 Biomarker group GENOMICS_ENGLAND Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. 23680354 2013
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.300 Biomarker group GENOMICS_ENGLAND Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 22246659 2012
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13 		0.300 Biomarker group CTD_human Zinc balance is critical for NFI-C mediated regulation of odontoblast differentiation. 22228435 2012
Entrez Id: 91252
Gene Symbol: SLC39A13
SLC39A13 		0.300 Biomarker group CTD_human The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. 18985159 2008
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		0.300 Biomarker group GENOMICS_ENGLAND Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults. 15805188 2005
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3 		0.300 Biomarker group GENOMICS_ENGLAND Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. 15551337 2005
Entrez Id: 90
Gene Symbol: ACVR1
ACVR1 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is an inherited connective tissue disease that mainly involves Fibrillin-1 (FBN1) mutations and aortic manifestations. 31830381 2020
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE FBN1 gene mutations lead to MFS and related connective tissue disorders. 31163209 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1. 30685343 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in fibrillin-1 (Fbn1). 31125551 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE Marfan syndrome (MS), a connective tissue disorder that affects ocular, skeletal, and cardiovascular systems, is caused by heterozygous pathogenic variants in FBN1. 30048161 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.200 GeneticVariation group BEFREE Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. 30087447 2018