×
Entrez Id:
10558
Gene Symbol:
SPTLC1
SPTLC1
0.010
GeneticVariation
disease
BEFREE
Here we report the clinical and molecular consequences of a particular mutation (p.S331Y ) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation.
23454272
2013
×
Entrez Id:
1293
Gene Symbol:
COL6A3
COL6A3
0.100
Biomarker
disease
HPO
×
Entrez Id:
4668
Gene Symbol:
NAGA
NAGA
0.100
Biomarker
disease
HPO
ALDH18A1
0.100
Biomarker
disease
HPO
×
Entrez Id:
84665
Gene Symbol:
MYPN
MYPN
0.100
Biomarker
disease
HPO
×
Entrez Id:
7170
Gene Symbol:
TPM3
TPM3
0.100
Biomarker
disease
HPO
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
0.100
Biomarker
disease
HPO
×
Entrez Id:
57190
Gene Symbol:
SELENON
SELENON
0.100
Biomarker
disease
HPO
×
Entrez Id:
2859
Gene Symbol:
GPR35
GPR35
0.100
Biomarker
disease
HPO
×
Entrez Id:
7169
Gene Symbol:
TPM2
TPM2
0.100
Biomarker
disease
HPO
×
Entrez Id:
7084
Gene Symbol:
TK2
TK2
0.100
Biomarker
disease
HPO
×
Entrez Id:
23435
Gene Symbol:
TARDBP
TARDBP
0.100
Biomarker
disease
HPO
×
Entrez Id:
6567
Gene Symbol:
SLC16A2
SLC16A2
0.100
Biomarker
disease
HPO
×
Entrez Id:
4593
Gene Symbol:
MUSK
MUSK
0.100
Biomarker
disease
HPO
×
Entrez Id:
79912
Gene Symbol:
PYROXD1
PYROXD1
0.100
Biomarker
disease
HPO
×
Entrez Id:
7273
Gene Symbol:
TTN
TTN
0.100
Biomarker
disease
HPO
×
Entrez Id:
825
Gene Symbol:
CAPN3
CAPN3
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
6843
Gene Symbol:
VAMP1
VAMP1
0.100
Biomarker
disease
HPO
×
Entrez Id:
2521
Gene Symbol:
FUS
FUS
0.100
Biomarker
disease
HPO
×
Entrez Id:
4654
Gene Symbol:
MYOD1
MYOD1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1291
Gene Symbol:
COL6A1
COL6A1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
79912
Gene Symbol:
PYROXD1
PYROXD1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
29110
Gene Symbol:
TBK1
TBK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
400916
Gene Symbol:
CHCHD10
CHCHD10
0.100
Biomarker
disease
HPO
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.100
Biomarker
disease
HPO