Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 358
Gene Symbol: AQP1
AQP1 		0.010 AlteredExpression disease BEFREE AQP1 expression from the Chiari malformation case showed an inverted polarity being expressed in the basal pole of the ChPE colocalizing with the glucose transporter 1 where this transporter is naturally located. 31039249 2019
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		0.100 Biomarker disease HPO
Entrez Id: 1108
Gene Symbol: CHD4
CHD4 		0.100 Biomarker disease HPO
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2 		0.100 Biomarker disease HPO
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.010 GeneticVariation disease BEFREE In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. 21932317 2011
Entrez Id: 1437
Gene Symbol: CSF2
CSF2 		0.010 Biomarker disease BEFREE The chronic CSF leak led to acquired Chiari malformation (CM) with syringomyelia. 30074451 2018
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker disease HPO
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 Biomarker disease HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker disease HPO
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.400 Biomarker disease HPO
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.400 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: 55215
Gene Symbol: FANCI
FANCI 		0.100 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.110 GeneticVariation disease BEFREE The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malformation, were detected more frequently in TWIST1 patients than in FGFR3 p.P250R patients. 22544111 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.110 Biomarker disease HPO
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 21840926 2011
Entrez Id: 80199
Gene Symbol: FUZ
FUZ 		0.400 Biomarker disease HPO
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.100 Biomarker disease HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker disease HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		0.100 Biomarker disease HPO
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2 		0.100 Biomarker disease HPO
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		0.010 Biomarker disease BEFREE The chronic CSF leak led to acquired Chiari malformation (CM) with syringomyelia. 30074451 2018