Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.110 Biomarker phenotype BEFREE Smad4 is an intracellular effector of the TGFβ family that has been implicated in Myhre syndrome, a skeletal dysplasia characterized by short stature, brachydactyly and stiff joints. 28167493 2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.110 GeneticVariation phenotype BEFREE Our case suggests an expansion of LMNA allelic disorders to include distal acroosteolysis, poikiloderma and joint stiffness (DAPJ). 26733286 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.110 GeneticVariation phenotype BEFREE Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. 25957947 2015
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.110 Biomarker phenotype HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.110 CausalMutation phenotype CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.110 Biomarker phenotype HPO
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.110 Biomarker phenotype HPO
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		0.100 Biomarker phenotype HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		0.100 Biomarker phenotype HPO
Entrez Id: 285362
Gene Symbol: SUMF1
SUMF1 		0.100 Biomarker phenotype HPO
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		0.100 Biomarker phenotype HPO
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		0.100 Biomarker phenotype HPO
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		0.100 Biomarker phenotype HPO
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		0.100 Biomarker phenotype HPO
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 Biomarker phenotype HPO
Entrez Id: 8838
Gene Symbol: CCN6
CCN6 		0.100 Biomarker phenotype HPO
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.100 Biomarker phenotype HPO
Entrez Id: 411
Gene Symbol: ARSB
ARSB 		0.100 Biomarker phenotype HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker phenotype HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		0.100 Biomarker phenotype HPO
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22 		0.100 Biomarker phenotype HPO
Entrez Id: 3636
Gene Symbol: INPPL1
INPPL1 		0.100 Biomarker phenotype HPO
Entrez Id: 3248
Gene Symbol: HPGD
HPGD 		0.100 Biomarker phenotype HPO
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		0.100 Biomarker phenotype HPO