Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		0.400 CausalMutation phenotype CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.400 Biomarker phenotype HPO
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.400 Biomarker phenotype HPO
Entrez Id: 3549
Gene Symbol: IHH
IHH 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 3549
Gene Symbol: IHH
IHH 		0.400 Biomarker phenotype HPO
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		0.400 Biomarker phenotype HPO
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.400 Biomarker phenotype HPO
Entrez Id: 4322
Gene Symbol: MMP13
MMP13 		0.400 Biomarker phenotype HPO
Entrez Id: 5116
Gene Symbol: PCNT
PCNT 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.400 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6 		0.300 Biomarker phenotype GENOMICS_ENGLAND Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 23664118 2013
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.300 Biomarker phenotype GENOMICS_ENGLAND A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies. 17236192 2007
Entrez Id: 4148
Gene Symbol: MATN3
MATN3 		0.300 Biomarker phenotype GENOMICS_ENGLAND Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3. 16287128 2005
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.300 Biomarker phenotype GENOMICS_ENGLAND A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome. 15372529 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 23169
Gene Symbol: SLC35D1
SLC35D1 		0.300 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 1300
Gene Symbol: COL10A1
COL10A1 		0.300 Biomarker phenotype GENOMICS_ENGLAND