Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 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: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.100 GeneticVariation phenotype CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
Entrez Id: 57724
Gene Symbol: EPG5
EPG5 		0.100 Biomarker phenotype HPO
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.100 Biomarker phenotype HPO
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		0.100 Biomarker phenotype HPO
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1678
Gene Symbol: TIMM8A
TIMM8A 		0.100 Biomarker phenotype HPO
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4 		0.100 Biomarker phenotype HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.100 Biomarker phenotype HPO