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: 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: 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