Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80217
Gene Symbol: CFAP43
CFAP43
0.300 GermlineCausalMutation disease ORPHANET Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities. 31004071 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Normal pressure hydrocephalus (NPH) is a chronic disorder caused by interrupted CSF absorption or flow. 29103634 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Compared with their corresponding controls and unlike patients with He-v, patients with NPH (age ≤ 50 years) had significant increases in CSF protein (241%, p < 0.001), CSF albumin (246%, p < 0.001), CSF IgG (328%, p < 0.001), and CSF:serum IgG (321%, p < 0.001) and CSF:serum albumin (257%, p < 0.001) ratios. 31059212 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE There was a significant increase in aggregate CSF MIF concentration in patients with aSAH versus those with NPH (24.4 ± 19.2 vs 2.3 ± 1.1 ng/ml, p < 0.0002). 31585427 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Future research in a larger patient sample will help determine the prospective utility of CSF biomarkers in the evaluation of NPH patients. 30937451 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Compared with their corresponding controls and unlike patients with He-v, patients with NPH (age ≤ 50 years) had significant increases in CSF protein (241%, p < 0.001), CSF albumin (246%, p < 0.001), CSF IgG (328%, p < 0.001), and CSF:serum IgG (321%, p < 0.001) and CSF:serum albumin (257%, p < 0.001) ratios. 31059212 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Future research in a larger patient sample will help determine the prospective utility of CSF biomarkers in the evaluation of NPH patients. 30937451 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE There was a significant increase in aggregate CSF MIF concentration in patients with aSAH versus those with NPH (24.4 ± 19.2 vs 2.3 ± 1.1 ng/ml, p < 0.0002). 31585427 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Normal pressure hydrocephalus (NPH) is a chronic disorder caused by interrupted CSF absorption or flow. 29103634 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE OBJECTIVEA short-term lumbar drain (LD) trial is commonly used to assess the response of normal pressure hydrocephalus (NPH) patients to CSF diversion. 30611143 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE OBJECTIVEA short-term lumbar drain (LD) trial is commonly used to assess the response of normal pressure hydrocephalus (NPH) patients to CSF diversion. 30611143 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Although there are articles that have discovered several cerebrospinal fluid (CSF) protein biomarkers associated with NPH; however, studies examining individual and total protein concentrations from the ventricular CSF before and after shunting surgery are lacking. 29408782 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Shunt-treated normal pressure hydrocephalus (NPH) is a model for testing whether the increase (time from disease onset to CSF shunt placement, i.e., "protection period") and decrease (time from shunt placement to observation, i.e., "exposure period") in intracranial pressure (ICP) are glaucoma protective or risk factors, respectively. 29148901 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Altered AQP4 expression is also evident in brain tissue from patients with Alzheimer's disease or normal pressure hydrocephalus; glymphatic MRI scans of patients with normal pressure hydrocephalus show reduced CSF tracer entry and clearance.WHERE NEXT? 30353860 2018
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
0.100 GeneticVariation disease BEFREE Homozygous full gene deletions of the <i>NPHP1</i> gene encoding nephrocystin-1 are a prominent cause of NPH. 29654215 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE The relationship found between ICP and Rout provides indirect evidence to support disturbed Cerebrospinal fluid circulation as a key factor in disturbed CSF dynamics in NPH. 29520439 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Altered AQP4 expression is also evident in brain tissue from patients with Alzheimer's disease or normal pressure hydrocephalus; glymphatic MRI scans of patients with normal pressure hydrocephalus show reduced CSF tracer entry and clearance.WHERE NEXT? 30353860 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Shunt-treated normal pressure hydrocephalus (NPH) is a model for testing whether the increase (time from disease onset to CSF shunt placement, i.e., "protection period") and decrease (time from shunt placement to observation, i.e., "exposure period") in intracranial pressure (ICP) are glaucoma protective or risk factors, respectively. 29148901 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE The relationship found between ICP and Rout provides indirect evidence to support disturbed Cerebrospinal fluid circulation as a key factor in disturbed CSF dynamics in NPH. 29520439 2018
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Although there are articles that have discovered several cerebrospinal fluid (CSF) protein biomarkers associated with NPH; however, studies examining individual and total protein concentrations from the ventricular CSF before and after shunting surgery are lacking. 29408782 2018
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE The purpose of this study is to detect whether the volume of CSF removed from patients undergoing high-volume diagnostic lumbar tap test for normal pressure hydrocephalus is significantly associated with post-lumbar tap gait performance. 28473344 2017
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE The purpose of this study is to detect whether the volume of CSF removed from patients undergoing high-volume diagnostic lumbar tap test for normal pressure hydrocephalus is significantly associated with post-lumbar tap gait performance. 28473344 2017
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE CSF tapping also improves mental imagery of gait in normal pressure hydrocephalus. 28744590 2017
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE CSF tapping also improves mental imagery of gait in normal pressure hydrocephalus. 28744590 2017
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
0.100 GeneticVariation disease BEFREE Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. 18607645 2009