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: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 None 1.000 41 1 2001 2018
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1 		spectrin repeat containing nuclear envelope protein 1 0.511 0.846 3.2E-52
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 None 0 1
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		SPG7 matrix AAA peptidase subunit, paraplegin 0.436 0.885 2.0E-36
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 None 0 1
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 None 0 2
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1 		calpain 1 0.539 0.808 5.9E-10
CUI: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 None 0 1