Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
0.410 GeneticVariation disease BEFREE Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c.359G>T (p.(R120L)), in two unrelated patients. 28513615 2017
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
0.410 GermlineCausalMutation disease ORPHANET Screening of DKK1 in a cohort of 65 CMI sporadic patients identified another missense variant, the c.359G>T (p.(R120L)), in two unrelated patients. 28513615 2017
Entrez Id: 22943
Gene Symbol: DKK1
DKK1
0.410 Biomarker disease HPO
Entrez Id: 2077
Gene Symbol: ERF
ERF
0.300 Biomarker disease CTD_human Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. 23354439 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.110 GeneticVariation disease BEFREE A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia. 12186468 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.110 Biomarker disease HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 Biomarker disease HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.100 Biomarker disease HPO
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
0.100 Biomarker disease HPO
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
0.100 Biomarker disease HPO
Entrez Id: 4774
Gene Symbol: NFIA
NFIA
0.100 Biomarker disease HPO
Entrez Id: 5500
Gene Symbol: PPP1CB
PPP1CB
0.100 Biomarker disease HPO
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
0.100 Biomarker disease HPO
Entrez Id: 4841
Gene Symbol: NONO
NONO
0.100 Biomarker disease HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
0.100 Biomarker disease HPO
Entrez Id: 8318
Gene Symbol: CDC45
CDC45
0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker disease HPO
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
0.100 GeneticVariation disease CLINVAR
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.090 Biomarker disease BEFREE The characteristic cerebellar tonsil herniation at the foramen magnum may either cause raised ICP by disturbing CSF flow (as observed in idiopathic CM1) or may itself be the effect of raised ICP (as observed in acquired CM1). 31197535 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.090 Biomarker disease BEFREE The characteristic cerebellar tonsil herniation at the foramen magnum may either cause raised ICP by disturbing CSF flow (as observed in idiopathic CM1) or may itself be the effect of raised ICP (as observed in acquired CM1). 31197535 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.090 Biomarker disease BEFREE In the case of IIH and Chiari I malformation, children who have recurrent symptoms despite adequate posterior fossa decompression surgery (failed Chiari), there is a strong role for intracranial pressure monitoring as raised intracranial pressure may indicate long-term CSF diversion. 31203396 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.090 GeneticVariation disease BEFREE A "complex" hypothesis, on the other hand, can explain the occurrence of hydrocephalus and CIM because of the venous engorgement resulting from the hypoplasia of the posterior cranial fossa (PCF) and the occlusion of the jugular foramina, leading to cerebellar edema (CIM) and CSF hypo-resorption (hydrocephalus). 31227858 2019
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.090 GeneticVariation disease BEFREE A "complex" hypothesis, on the other hand, can explain the occurrence of hydrocephalus and CIM because of the venous engorgement resulting from the hypoplasia of the posterior cranial fossa (PCF) and the occlusion of the jugular foramina, leading to cerebellar edema (CIM) and CSF hypo-resorption (hydrocephalus). 31227858 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.090 Biomarker disease BEFREE In the case of IIH and Chiari I malformation, children who have recurrent symptoms despite adequate posterior fossa decompression surgery (failed Chiari), there is a strong role for intracranial pressure monitoring as raised intracranial pressure may indicate long-term CSF diversion. 31203396 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.090 GeneticVariation disease BEFREE RESULTS No significant differences were observed between patients with symptomatic and asymptomatic CM-I related to tentorium length (50.3 vs 51.0 mm; p = 0.537), supraoccipital length (39.4 vs 42.6 mm; p = 0.055), clivus-tentorium distance (52.0 vs 52.1 mm; p = 0.964), clivus-torcula distance (81.5 vs 83.3 mm; p = 0.257), total posterior fossa volume (PFV; 183.4 vs 190.6 ml; p = 0.250), caudal PFV (152.5 vs 159.8 ml; p = 0.256), fourth ventricle volume to caudal PFV ratio (0.0140 vs 0.0136; p = 0.649), or CSF volume to caudal PFV ratio (0.071 vs 0.061; p = 0.138). 29125445 2018