Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		0.110 Biomarker disease BEFREE Strikingly, monoallelic loss of ARID1A in NCCs led to craniofacial defects in adult mice, including shortened snouts and low set ears, and these defects were more pronounced following homozygous loss of ARID1A, with the ventral cranial bones being greatly reduced in size. 26806701 2016
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		0.110 CausalMutation disease CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79053
Gene Symbol: ALG8
ALG8 		0.100 CausalMutation disease CLINVAR
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 GeneticVariation disease CLINVAR
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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8942
Gene Symbol: KYNU
KYNU 		0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.100 CausalMutation disease CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116 2009
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation disease CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 79770
Gene Symbol: TXNDC15
TXNDC15 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6909
Gene Symbol: TBX2
TBX2 		0.100 CausalMutation disease CLINVAR