Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.100 GeneticVariation phenotype CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362 2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.100 GeneticVariation phenotype CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893 2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		0.100 GeneticVariation phenotype CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520 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: 59341
Gene Symbol: TRPV4
TRPV4 		0.100 GeneticVariation phenotype CLINVAR TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. 21288981 2011
Entrez Id: 3032
Gene Symbol: HADHB
HADHB 		0.100 Biomarker phenotype HPO
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.100 Biomarker phenotype HPO
Entrez Id: 4763
Gene Symbol: NF1
NF1 		0.100 Biomarker phenotype HPO
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		0.100 Biomarker phenotype HPO
Entrez Id: 9197
Gene Symbol: SLC33A1
SLC33A1 		0.100 Biomarker phenotype HPO
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		0.100 Biomarker phenotype HPO
Entrez Id: 5216
Gene Symbol: PFN1
PFN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27 		0.100 Biomarker phenotype HPO
Entrez Id: 779
Gene Symbol: CACNA1S
CACNA1S 		0.100 Biomarker phenotype HPO
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK 		0.100 Biomarker phenotype HPO
Entrez Id: 81545
Gene Symbol: FBXO38
FBXO38 		0.100 Biomarker phenotype HPO
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.100 Biomarker phenotype HPO
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.100 Biomarker phenotype HPO
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		0.100 Biomarker phenotype HPO
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1 		0.100 Biomarker phenotype HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		0.100 Biomarker phenotype HPO
Entrez Id: 2313
Gene Symbol: FLI1
FLI1 		0.100 Biomarker phenotype HPO
Entrez Id: 23111
Gene Symbol: SPART
SPART 		0.100 Biomarker phenotype HPO
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 CausalMutation phenotype CLINVAR