Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 Biomarker disease HPO
Entrez Id: 3423
Gene Symbol: IDS
IDS
0.100 Biomarker disease HPO
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
0.100 Biomarker disease HPO
Entrez Id: 4771
Gene Symbol: NF2
NF2
0.100 Biomarker disease HPO
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation disease CLINVAR
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease HPO
Entrez Id: 3590
Gene Symbol: IL11RA
IL11RA
0.100 Biomarker disease HPO
Entrez Id: 63901
Gene Symbol: FAM111A
FAM111A
0.100 Biomarker disease HPO
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 Biomarker disease HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease HPO
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.100 Biomarker disease HPO
Entrez Id: 51684
Gene Symbol: SUFU
SUFU
0.100 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1
0.100 Biomarker disease HPO
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF
0.100 Biomarker disease HPO
Entrez Id: 4323
Gene Symbol: MMP14
MMP14
0.100 Biomarker disease HPO
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE Presenting symptoms and CSF OP was not significantly different between patients with symmetric and asymmetric papilledema. 31176474 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE We are currently initiating a multi-centre randomised controlled trial, the VISION study (Venous Intervention versus Shunting in IIH for Optic Disc Swelling) comparing radiological (venous sinus stenting) to surgical intervention (CSF shunting). 28934871 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE All patients had evidence of raised ICP as papilloedema and raised CSF pressure on lumbar puncture. 30653369 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE Presenting symptoms and CSF OP was not significantly different between patients with symmetric and asymmetric papilledema. 31176474 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 Biomarker disease BEFREE We are currently initiating a multi-centre randomised controlled trial, the VISION study (Venous Intervention versus Shunting in IIH for Optic Disc Swelling) comparing radiological (venous sinus stenting) to surgical intervention (CSF shunting). 28934871 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 Biomarker disease BEFREE All patients had evidence of raised ICP as papilloedema and raised CSF pressure on lumbar puncture. 30653369 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 AlteredExpression disease BEFREE Papilledema and raised intracranial pressure (ICP) are seen in some patients, and are thought to be associated with elevated cerebrospinal fluid (CSF) protein-though CSF protein levels are normal in some patients, thus the specific mechanisms remain unclear. 30045288 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.050 GeneticVariation disease BEFREE After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. 30074451 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.050 GeneticVariation disease BEFREE After an epidural blood patch, her neurological status improved; however, after the complete arrest of the CSF leak from the thigh, she presented with severe nonpostural headache and progressive visual acuity loss with optic papilledema. 30074451 2018