×
Entrez Id:
25894
Gene Symbol:
PLEKHG4
PLEKHG4
0.010
GeneticVariation
phenotype
BEFREE
The locus was exactly the candidate interval of SCA4 , a rare form of ADCA clinically characterized by ataxia with sensory neuropathy and pyramidal tract signs .
10822439
2000
×
Entrez Id:
25793
Gene Symbol:
FBXO7
FBXO7
0.040
GeneticVariation
phenotype
BEFREE
Mutations in several autosomal genes, including the F-box only protein 7 (FBXO7 ) gene, have been found in patients suffering from juvenile-onset parkinsonism with pyramidal signs .
29174172
2018
×
Entrez Id:
25793
Gene Symbol:
FBXO7
FBXO7
0.040
GeneticVariation
phenotype
BEFREE
The F-box protein 7 (FBXO7 ) mutations have been identified in families with early-onset parkinsonism and pyramidal tract signs , and designated as PARK15.
27765362
2016
×
Entrez Id:
25793
Gene Symbol:
FBXO7
FBXO7
0.040
GeneticVariation
phenotype
BEFREE
Mutations in FBXO7 (PARK15 ) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs .
24112787
2014
×
Entrez Id:
25793
Gene Symbol:
FBXO7
FBXO7
0.040
GeneticVariation
phenotype
BEFREE
Mutations in the FBXO7 gene cause an autosomal-recessive early-onset parkinsonism with pyramidal tract signs .
23352116
2013
×
Entrez Id:
56997
Gene Symbol:
COQ8A
COQ8A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
374291
Gene Symbol:
NDUFS7
NDUFS7
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5696
Gene Symbol:
PSMB8
PSMB8
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
720
Gene Symbol:
C4A
C4A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
51324
Gene Symbol:
SPG21
SPG21
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2956
Gene Symbol:
MSH6
MSH6
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
5378
Gene Symbol:
PMS1
PMS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2961
Gene Symbol:
GTF2E2
GTF2E2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3586
Gene Symbol:
IL10
IL10
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
404672
Gene Symbol:
GTF2H5
GTF2H5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
103
Gene Symbol:
ADAR
ADAR
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
25939
Gene Symbol:
SAMHD1
SAMHD1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
80169
Gene Symbol:
CTC1
CTC1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
57468
Gene Symbol:
SLC12A5
SLC12A5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.100
Biomarker
phenotype
HPO
TMEM106B
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
79147
Gene Symbol:
FKRP
FKRP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2517
Gene Symbol:
FUCA1
FUCA1
0.100
Biomarker
phenotype
HPO