Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 CausalMutation disease CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
0.400 Biomarker disease HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 GeneticVariation disease BEFREE Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 27150940 2016
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 GeneticVariation disease BEFREE An OPA1 missense mutation, c.239A→G (p.Y80C), was identified in an 11-year-old black girl with optic atrophy and peripheral sensorimotor neuropathy in her lower limbs. 21036400 2011
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.120 Biomarker disease HPO
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.110 GeneticVariation disease BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395 2016
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.110 GeneticVariation disease BEFREE We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. 24253200 2014
Entrez Id: 26278
Gene Symbol: SACS
SACS
0.110 GeneticVariation disease BEFREE Whole-exome sequencing rapidly defined the genetic cause of the disorder, expanding the clinical phenotype associated with SACS mutations to include a severe sensorimotor neuropathy. 22751902 2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 Biomarker disease BEFREE Mutations in the gene for the peripheral myelin protein zero (P0, MPZ) cause type 1B of Charcot-Marie-Tooth sensorimotor neuropathy (CMT1B). 11701152 2001
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.110 GeneticVariation disease BEFREE The sensorimotor neuropathy phenotype caused by the 399T-->G SPTLC1 mutation is the same as that reported by Campbell and Hoffman and, possibly, the same as that originally described by Hicks. 11479835 2001
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.110 Biomarker disease HPO
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation disease CLINVAR
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.110 Biomarker disease HPO
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
0.110 CausalMutation disease CLINVAR
Entrez Id: 26278
Gene Symbol: SACS
SACS
0.110 Biomarker disease HPO
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.100 CausalMutation disease CLINVAR Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease. 29941560 2018
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1
0.100 Biomarker disease HPO
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
0.100 Biomarker disease HPO
Entrez Id: 4535
Gene Symbol: ND1
ND1
0.100 Biomarker disease HPO
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
0.100 CausalMutation disease CLINVAR
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.100 Biomarker disease HPO
Entrez Id: 4541
Gene Symbol: ND6
ND6
0.100 Biomarker disease HPO
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.100 Biomarker disease HPO
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
0.100 Biomarker disease HPO