Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 6925
Gene Symbol: TCF4
TCF4
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR

Entrez Id: 5813
Gene Symbol: PURA
PURA
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR

Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 GeneticVariation CLINVAR