Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259232
Gene Symbol: NALCN
NALCN 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.100 GeneticVariation phenotype CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 Biomarker phenotype HPO
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.100 Biomarker phenotype HPO
Entrez Id: 9361
Gene Symbol: LONP1
LONP1 		0.100 Biomarker phenotype HPO
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 Biomarker phenotype HPO
Entrez Id: 9632
Gene Symbol: SEC24C
SEC24C 		0.100 Biomarker phenotype HPO
Entrez Id: 7353
Gene Symbol: UFD1
UFD1 		0.100 Biomarker phenotype HPO
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		0.100 Biomarker phenotype HPO
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		0.100 Biomarker phenotype HPO
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		0.100 Biomarker phenotype HPO
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		0.100 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.100 Biomarker phenotype HPO
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker phenotype HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 Biomarker phenotype HPO
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.100 Biomarker phenotype HPO
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		0.100 Biomarker phenotype HPO
Entrez Id: 8260
Gene Symbol: NAA10
NAA10 		0.100 Biomarker phenotype HPO
Entrez Id: 139285
Gene Symbol: AMER1
AMER1 		0.100 Biomarker phenotype HPO
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2 		0.100 Biomarker phenotype HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 Biomarker phenotype HPO
Entrez Id: 51339
Gene Symbol: DACT1
DACT1 		0.100 Biomarker phenotype HPO
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB 		0.100 Biomarker phenotype HPO