Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.100 GeneticVariation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation disease CLINVAR
Entrez Id: 57222
Gene Symbol: ERGIC1
ERGIC1
0.100 Biomarker disease HPO
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
0.100 Biomarker disease HPO
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
0.100 Biomarker disease HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
0.100 CausalMutation disease CLINVAR
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
0.100 Biomarker disease HPO
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
0.100 Biomarker disease HPO
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation disease CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.100 CausalMutation disease CLINVAR
Entrez Id: 4222
Gene Symbol: MEOX1
MEOX1
0.100 Biomarker disease HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation disease CLINVAR
Entrez Id: 392255
Gene Symbol: GDF6
GDF6
0.100 Biomarker disease HPO
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
0.100 Biomarker disease HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation disease CLINVAR
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.010 AlteredExpression disease BEFREE BACKGROUND This study investigated the expression of Bax/Bcl-2, TGF-β1 and type III collagen fiber in sternocleidomastoid of congenital muscular torticollis (CMT), and explored the possible mechanisms of fibrosis in sternocleidomastoid of CMT. 30390390 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 Biomarker disease BEFREE Expression of Bax/Bcl-2, TGF-β1, and Type III Collagen Fiber in Congenital Muscular Torticollis. 30390390 2018
Entrez Id: 1107
Gene Symbol: CHD3
CHD3
0.010 Biomarker disease BEFREE Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM. 23819832 2013
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.010 AlteredExpression disease BEFREE Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM. 23819832 2013
Entrez Id: 54829
Gene Symbol: ASPN
ASPN
0.010 Biomarker disease BEFREE Moreover, the protein expressions of ELN, ASPN and CHD3 which were identified from the CMT-related protein network modules demonstrated the differential expression between the CMT and normal SCM. 23819832 2013