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: 26353
Gene Symbol: HSPB8
HSPB8 		heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 1.000 3 1 2016 2018
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		tubulin beta 6 class V 0.686 0.462 1.7E-04
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 1.000 1 1 2010 2010
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		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: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		phospholipase A2 group VI 0.476 0.846 2.5E-10
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU 		N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		mitochondrial intermediate peptidase 0.666 0.615 1.6E-15
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1 		potassium voltage-gated channel subfamily C member 1 0.711 0.154 0.99
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 29888
Gene Symbol: STRN4
STRN4 		striatin 4 0.792 0.346 0.99
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 2