Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.110 GeneticVariation disease BEFREE Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. 25823796 2015
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.110 Biomarker disease BEFREE The remaining Hspg2-/- mice died just after birth with skeletal dysplasia characterized by micromelia with broad and bowed long bones, narrow thorax and craniofacial abnormalities. 10545953 1999
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.110 GeneticVariation disease BEFREE Two autosomal recessive chondrodysplasias, cartilage matrix deficiency (cmd) in mice and nanomelia in chicken are both caused by aggrecan gene mutations. 9756610 1998
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.110 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.110 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.110 Biomarker disease HPO
Entrez Id: 153241
Gene Symbol: CEP120
CEP120 		0.100 Biomarker disease HPO
Entrez Id: 6023
Gene Symbol: RMRP
RMRP 		0.100 Biomarker disease HPO
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2 		0.100 Biomarker disease HPO
Entrez Id: 219844
Gene Symbol: HYLS1
HYLS1 		0.100 Biomarker disease HPO
Entrez Id: 7474
Gene Symbol: WNT5A
WNT5A 		0.100 Biomarker disease HPO
Entrez Id: 51025
Gene Symbol: PAM16
PAM16 		0.100 Biomarker disease HPO
Entrez Id: 2317
Gene Symbol: FLNB
FLNB 		0.100 Biomarker disease HPO
Entrez Id: 51626
Gene Symbol: DYNC2LI1
DYNC2LI1 		0.100 Biomarker disease HPO
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		0.100 Biomarker disease HPO
Entrez Id: 7476
Gene Symbol: WNT7A
WNT7A 		0.100 Biomarker disease HPO
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		0.100 Biomarker disease HPO
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		0.100 Biomarker disease HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC 		0.100 Biomarker disease HPO
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 Biomarker disease HPO
Entrez Id: 3549
Gene Symbol: IHH
IHH 		0.100 Biomarker disease HPO
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1 		0.100 Biomarker disease HPO
Entrez Id: 10225
Gene Symbol: CD96
CD96 		0.100 Biomarker disease HPO
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24 		0.100 Biomarker disease HPO