Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		0.300 Biomarker phenotype GENOMICS_ENGLAND These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from 'Classical' OI. 27789416 2017
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A 		0.100 Biomarker phenotype HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.100 Biomarker phenotype HPO
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B 		0.100 Biomarker phenotype HPO
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		0.100 Biomarker phenotype HPO
Entrez Id: 1134
Gene Symbol: CHRNA1
CHRNA1 		0.100 Biomarker phenotype HPO
Entrez Id: 5566
Gene Symbol: PRKACA
PRKACA 		0.100 Biomarker phenotype HPO
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 Biomarker phenotype HPO
Entrez Id: 9368
Gene Symbol: SLC9A3R1
SLC9A3R1 		0.100 Biomarker phenotype HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.100 Biomarker phenotype HPO
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5 		0.100 Biomarker phenotype HPO
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 Biomarker phenotype HPO
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		0.100 Biomarker phenotype HPO
Entrez Id: 4323
Gene Symbol: MMP14
MMP14 		0.100 Biomarker phenotype HPO
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1 		0.100 Biomarker phenotype HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.100 Biomarker phenotype HPO
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A 		0.100 Biomarker phenotype HPO
Entrez Id: 5176
Gene Symbol: SERPINF1
SERPINF1 		0.100 Biomarker phenotype HPO
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.100 Biomarker phenotype HPO
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1 		0.100 Biomarker phenotype HPO