Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 3 1 2011 2015
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 3 1 2016 2018
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 1 6 2015 2015
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
transcription factor 4 0.464 0.846 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
titin 0.470 0.885 2.6E-96
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
purine rich element binding protein A 0.644 0.500 0.94
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
GATA zinc finger domain containing 2B 0.593 0.654 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
glutamine rich 1 0.716 0.423 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 2
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
potassium calcium-activated channel subfamily M alpha 1 0.518 0.846 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
EBF transcription factor 3 0.595 0.731 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 101929328
Gene Symbol: KCNMA1-AS1
KCNMA1-AS1
KCNMA1 antisense RNA 1 0.705 0.654
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 0.599 0.577
CUI: C0856863
Disease: Broad-based gait
Broad-based gait
phenotype 0.100 None 0 1