Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 81857
Gene Symbol: MED25
MED25 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation phenotype CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		0.100 GeneticVariation phenotype CLINVAR
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: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 Biomarker phenotype HPO
Entrez Id: 4784
Gene Symbol: NFIX
NFIX 		0.100 Biomarker phenotype HPO
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		0.100 Biomarker phenotype HPO
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		0.100 Biomarker phenotype HPO
Entrez Id: 667
Gene Symbol: DST
DST 		0.100 Biomarker phenotype HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 Biomarker phenotype HPO
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		0.100 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.100 Biomarker phenotype HPO
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		0.100 Biomarker phenotype HPO
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.100 Biomarker phenotype HPO
Entrez Id: 2314
Gene Symbol: FLII
FLII 		0.100 Biomarker phenotype HPO
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 Biomarker phenotype HPO
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		0.100 Biomarker phenotype HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.100 Biomarker phenotype HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker phenotype HPO
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker phenotype HPO
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		0.100 Biomarker phenotype HPO