Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 215
Gene Symbol: ABCD1
ABCD1 		0.100 GeneticVariation phenotype CLINVAR First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087 1998
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker phenotype HPO
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.100 Biomarker phenotype HPO
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		0.100 Biomarker phenotype HPO
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4 		0.100 Biomarker phenotype HPO
Entrez Id: 219285
Gene Symbol: SAMD9L
SAMD9L 		0.100 Biomarker phenotype HPO
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		0.100 Biomarker phenotype HPO
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.100 Biomarker phenotype HPO
Entrez Id: 79152
Gene Symbol: FA2H
FA2H 		0.100 Biomarker phenotype HPO
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.100 Biomarker phenotype HPO
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		0.100 Biomarker phenotype HPO
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		0.100 Biomarker phenotype HPO
Entrez Id: 65055
Gene Symbol: REEP1
REEP1 		0.100 Biomarker phenotype HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 Biomarker phenotype HPO
Entrez Id: 55129
Gene Symbol: ANO10
ANO10 		0.100 Biomarker phenotype HPO
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 113278
Gene Symbol: SLC52A3
SLC52A3 		0.100 Biomarker phenotype HPO
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A 		0.100 Biomarker phenotype HPO
Entrez Id: 10159
Gene Symbol: ATP6AP2
ATP6AP2 		0.100 Biomarker phenotype HPO
Entrez Id: 23516
Gene Symbol: SLC39A14
SLC39A14 		0.100 Biomarker phenotype HPO
Entrez Id: 22931
Gene Symbol: RAB18
RAB18 		0.100 Biomarker phenotype HPO
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27 		0.100 Biomarker phenotype HPO
Entrez Id: 11160
Gene Symbol: ERLIN2
ERLIN2 		0.100 Biomarker phenotype HPO