Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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