Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25972
Gene Symbol: UNC50
UNC50 		0.010 Biomarker disease BEFREE Both MLR and URP-CTREE predictive models are useful for the diagnosis of SRBD in patients with CM. 30621833 2019
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: 8233
Gene Symbol: ZRSR2
ZRSR2 		0.010 Biomarker disease BEFREE Both MLR and URP-CTREE predictive models are useful for the diagnosis of SRBD in patients with CM. 30621833 2019
Entrez Id: 257313
Gene Symbol: UTS2B
UTS2B 		0.010 Biomarker disease BEFREE Both MLR and URP-CTREE predictive models are useful for the diagnosis of SRBD in patients with CM. 30621833 2019
Entrez Id: 90226
Gene Symbol: UCN2
UCN2 		0.010 Biomarker disease BEFREE Both MLR and URP-CTREE predictive models are useful for the diagnosis of SRBD in patients with CM. 30621833 2019
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: 3918
Gene Symbol: LAMC2
LAMC2 		0.010 Biomarker disease BEFREE The chronic CSF leak led to acquired Chiari malformation (CM) with syringomyelia. 30074451 2018
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: 80316
Gene Symbol: PPP1R2C
PPP1R2C 		0.010 GeneticVariation disease BEFREE Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. 21882906 2011
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.020 GeneticVariation disease BEFREE Author Correction: Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation. 29728620 2018
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		0.020 GeneticVariation disease BEFREE We found a novel, private, predicted as damaging mutation in Nico in LRP5, a gene related to bone density alteration pathologies, and we suggest a link between this mutation and his Chiari malformation as previously shown in humans. 29123202 2017
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1 		0.100 Biomarker disease HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.100 Biomarker disease HPO
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 Biomarker disease HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 Biomarker disease HPO
Entrez Id: 55159
Gene Symbol: RFWD3
RFWD3 		0.100 Biomarker disease HPO
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3 		0.100 Biomarker disease HPO
Entrez Id: 9031
Gene Symbol: BAZ1B
BAZ1B 		0.100 Biomarker disease HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		0.100 Biomarker disease HPO
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.100 Biomarker disease HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A 		0.100 Biomarker disease HPO
Entrez Id: 5982
Gene Symbol: RFC2
RFC2 		0.100 Biomarker disease HPO
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1 		0.100 Biomarker disease HPO
Entrez Id: 1108
Gene Symbol: CHD4
CHD4 		0.100 Biomarker disease HPO