Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3930
Gene Symbol: LBR
LBR 		0.400 Biomarker disease GENOMICS_ENGLAND Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. 29068549 2018
Entrez Id: 3930
Gene Symbol: LBR
LBR 		0.400 Biomarker disease HPO
Entrez Id: 22858
Gene Symbol: CILK1
CILK1 		0.300 Biomarker disease GENOMICS_ENGLAND A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. 19185282 2009
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		0.110 Biomarker disease BEFREE Mesomelic limb shortening in Ror2(-/-) mice is a consequence of perturbed chondrocyte differentiation. 14745966 2004
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		0.110 Biomarker disease BEFREE The results suggest that, in individuals with SHOX haploinsufficiency and normal ovarian function, auxological abnormalities related to mesomelia are evident from childhood and worsen further during puberty because of the skeletal maturing effects of ovarian estrogens. 14514349 2003
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		0.110 Biomarker disease HPO
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		0.110 Biomarker disease HPO
Entrez Id: 64359
Gene Symbol: NXN
NXN 		0.100 Biomarker disease HPO
Entrez Id: 10082
Gene Symbol: GPC6
GPC6 		0.100 Biomarker disease HPO
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		0.100 Biomarker disease HPO
Entrez Id: 4750
Gene Symbol: NEK1
NEK1 		0.100 Biomarker disease HPO
Entrez Id: 4796
Gene Symbol: TONSL
TONSL 		0.100 Biomarker disease HPO
Entrez Id: 23387
Gene Symbol: SIK3
SIK3 		0.100 Biomarker disease HPO
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		0.100 Biomarker disease HPO
Entrez Id: 57560
Gene Symbol: IFT80
IFT80 		0.100 Biomarker disease HPO
Entrez Id: 1857
Gene Symbol: DVL3
DVL3 		0.100 Biomarker disease HPO
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3 		0.100 Biomarker disease HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.100 Biomarker disease HPO
Entrez Id: 29980
Gene Symbol: DONSON
DONSON 		0.100 Biomarker disease HPO
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		0.100 Biomarker disease HPO
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 Biomarker disease HPO
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1 		0.100 Biomarker disease HPO
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 Biomarker disease HPO