Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 894
Gene Symbol: CCND2
CCND2 		0.300 Biomarker disease CTD_human A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. 29642246 2018
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A 		0.300 Biomarker disease CTD_human Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. 27399968 2016
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA 		0.300 Biomarker disease CTD_human Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. 22522421 2012
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.300 Biomarker disease CTD_human Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. 20493458 2010
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.300 Biomarker disease CTD_human Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. 19029900 2008
Entrez Id: 54768
Gene Symbol: HYDIN
HYDIN 		0.300 Biomarker disease CTD_human Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. 12719380 2003
Entrez Id: 7055
Gene Symbol: THAS
THAS 		0.300 Biomarker disease CTD_human X-linked midline defects. 4039891 1985
Entrez Id: 440193
Gene Symbol: CCDC88C
CCDC88C 		0.300 Biomarker disease CTD_human
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ 		0.110 GeneticVariation disease BEFREE Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus. 29499638 2018
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ 		0.110 Biomarker disease HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 9871
Gene Symbol: SEC24D
SEC24D 		0.100 Biomarker disease HPO
Entrez Id: 83879
Gene Symbol: CDCA7
CDCA7 		0.100 Biomarker disease HPO
Entrez Id: 9841
Gene Symbol: ZBTB24
ZBTB24 		0.100 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 Biomarker disease HPO
Entrez Id: 5034
Gene Symbol: P4HB
P4HB 		0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.100 Biomarker disease HPO
Entrez Id: 1789
Gene Symbol: DNMT3B
DNMT3B 		0.100 Biomarker disease HPO
Entrez Id: 27019
Gene Symbol: DNAI1
DNAI1 		0.100 Biomarker disease HPO
Entrez Id: 3070
Gene Symbol: HELLS
HELLS 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 Biomarker disease HPO
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 Biomarker disease HPO
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		0.050 Biomarker disease BEFREE Such a device could serve to mimic the function of the arachnoid granulation by establishing a regulated path for CSF flow from the intracranial subarachnoid space to the venous system and provide a treatment for communicating hydrocephalus. 30626626 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.050 Biomarker disease BEFREE Such a device could serve to mimic the function of the arachnoid granulation by establishing a regulated path for CSF flow from the intracranial subarachnoid space to the venous system and provide a treatment for communicating hydrocephalus. 30626626 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.050 AlteredExpression disease BEFREE Part I described the historical perspectives and clinical aspects of the relationship between vascular permeability, abnormal CSF protein levels, clotting of the CSF, and communicating hydrocephalus. 28283837 2018