Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.120 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.120 CausalMutation disease CLINVAR
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.120 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.120 Biomarker disease HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.120 Biomarker disease HPO
Entrez Id: 355
Gene Symbol: FAS
FAS
0.120 Biomarker disease HPO
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.120 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
0.110 Biomarker disease HPO
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
0.110 Biomarker disease HPO
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
0.110 Biomarker disease HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.110 Biomarker disease HPO
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
0.110 GeneticVariation disease CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.110 CausalMutation disease CLINVAR
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.110 CausalMutation disease CLINVAR
Entrez Id: 23111
Gene Symbol: SPART
SPART
0.110 Biomarker disease HPO
Entrez Id: 84197
Gene Symbol: POMK
POMK
0.110 Biomarker disease HPO
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
0.110 Biomarker disease HPO
Entrez Id: 166379
Gene Symbol: BBS12
BBS12
0.110 Biomarker disease HPO
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
0.110 Biomarker disease HPO
Entrez Id: 347733
Gene Symbol: TUBB2B
TUBB2B
0.110 Biomarker disease HPO
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.110 Biomarker disease HPO
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
0.110 Biomarker disease HPO
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
0.110 Biomarker disease HPO
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
0.110 Biomarker disease HPO
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
0.110 Biomarker disease HPO