×
Entrez Id:
215
Gene Symbol:
ABCD1
ABCD1
0.100
Biomarker
disease
HPO
×
Entrez Id:
58
Gene Symbol:
ACTA1
ACTA1
0.100
Biomarker
disease
HPO
×
Entrez Id:
375790
Gene Symbol:
AGRN
AGRN
0.100
Biomarker
disease
HPO
×
Entrez Id:
367
Gene Symbol:
AR
AR
0.100
Biomarker
disease
HPO
×
Entrez Id:
410
Gene Symbol:
ARSA
ARSA
0.100
Biomarker
disease
HPO
×
Entrez Id:
6310
Gene Symbol:
ATXN1
ATXN1
0.100
Biomarker
disease
HPO
×
Entrez Id:
203228
Gene Symbol:
C9orf72
C9orf72
0.100
Biomarker
disease
HPO
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
0.100
GeneticVariation
disease
CLINVAR
×
Entrez Id:
1103
Gene Symbol:
CHAT
CHAT
0.100
Biomarker
disease
HPO
×
Entrez Id:
400916
Gene Symbol:
CHCHD10
CHCHD10
0.100
Biomarker
disease
HPO
×
Entrez Id:
1134
Gene Symbol:
CHRNA1
CHRNA1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1145
Gene Symbol:
CHRNE
CHRNE
0.100
Biomarker
disease
HPO
×
Entrez Id:
8506
Gene Symbol:
CNTNAP1
CNTNAP1
0.100
GeneticVariation
disease
CLINVAR
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
27668699
2017
×
Entrez Id:
1305
Gene Symbol:
COL13A1
COL13A1
0.100
Biomarker
disease
HPO
×
Entrez Id:
1437
Gene Symbol:
CSF2
CSF2
0.010
AlteredExpression
disease
BEFREE
The cerebrospinal fluid (CSF ) protein level in patients was higher in MFS-BP + than in MFS-BP - group (67.69 ± 26.59 vs. 50.15 ± 20.44 mg/dl; P < 0.05).
29124441
2018
×
Entrez Id:
1674
Gene Symbol:
DES
DES
0.100
Biomarker
disease
HPO
×
Entrez Id:
285489
Gene Symbol:
DOK7
DOK7
0.100
Biomarker
disease
HPO
×
Entrez Id:
2521
Gene Symbol:
FUS
FUS
0.100
Biomarker
disease
HPO
×
Entrez Id:
2934
Gene Symbol:
GSN
GSN
0.100
Biomarker
disease
HPO
×
Entrez Id:
3483
Gene Symbol:
IGFALS
IGFALS
0.010
Biomarker
disease
BEFREE
A 40 year old lady had progressive weakness and atrophy of the limbs and bulbar palsy from the age of 39 years and with electrophysiological evaluation was confirmed as definite ALS .
16936397
2006
×
Entrez Id:
3918
Gene Symbol:
LAMC2
LAMC2
0.010
AlteredExpression
disease
BEFREE
The cerebrospinal fluid (CSF ) protein level in patients was higher in MFS-BP + than in MFS-BP - group (67.69 ± 26.59 vs. 50.15 ± 20.44 mg/dl; P < 0.05).
29124441
2018
×
Entrez Id:
56203
Gene Symbol:
LMOD3
LMOD3
0.100
Biomarker
disease
HPO
×
Entrez Id:
9782
Gene Symbol:
MATR3
MATR3
0.100
Biomarker
disease
HPO
×
Entrez Id:
4204
Gene Symbol:
MECP2
MECP2
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
4625
Gene Symbol:
MYH7
MYH7
0.100
Biomarker
disease
HPO