Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
0.110 GeneticVariation disease BEFREE Here we describe a case of LD carrying a de novo frameshift mutation of FOXC2 who presented a prepubertal onset of lower limbs lymphedema and mild distichiasis associated with other anomalies such as webbing neck and ptosis. 20450314 2010
Entrez Id: 6654
Gene Symbol: SOS1
SOS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.100 CausalMutation disease CLINVAR
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 GeneticVariation disease CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
0.100 GeneticVariation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
0.100 GeneticVariation disease CLINVAR
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.100 GeneticVariation disease CLINVAR
Entrez Id: 134218
Gene Symbol: DNAJC21
DNAJC21
0.100 CausalMutation disease CLINVAR
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 CausalMutation disease CLINVAR
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
0.100 CausalMutation disease CLINVAR
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2303
Gene Symbol: FOXC2
FOXC2
0.110 Biomarker disease HPO
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1
0.100 Biomarker disease HPO
Entrez Id: 9573
Gene Symbol: GDF3
GDF3
0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
0.100 Biomarker disease HPO
Entrez Id: 7140
Gene Symbol: TNNT3
TNNT3
0.100 Biomarker disease HPO
Entrez Id: 22808
Gene Symbol: MRAS
MRAS
0.100 Biomarker disease HPO
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 Biomarker disease HPO
Entrez Id: 9780
Gene Symbol: PIEZO1
PIEZO1
0.100 Biomarker disease HPO
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 Biomarker disease HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 Biomarker disease HPO
Entrez Id: 6736
Gene Symbol: SRY
SRY
0.100 Biomarker disease HPO