Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26608
Gene Symbol: TBL2
TBL2 		0.100 Biomarker disease HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1 		0.100 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		0.100 Biomarker disease HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.100 Biomarker disease HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker disease HPO
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 23387
Gene Symbol: SIK3
SIK3 		0.100 Biomarker disease HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I 		0.100 Biomarker disease HPO
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.100 Biomarker disease HPO
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.100 Biomarker disease HPO
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 Biomarker disease HPO
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2 		0.100 Biomarker disease HPO
Entrez Id: 8091
Gene Symbol: HMGA2
HMGA2 		0.100 Biomarker disease HPO
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 Biomarker disease HPO
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 Biomarker disease HPO
Entrez Id: 7545
Gene Symbol: ZIC1
ZIC1 		0.100 Biomarker disease HPO
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.100 Biomarker disease HPO
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2 		0.100 Biomarker disease HPO
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 CausalMutation disease CLINVAR
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		0.100 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker disease HPO
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: 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