Source: HPO

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: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 85465
Gene Symbol: SELENOI
SELENOI 		selenoprotein I 0.769 0.385 0.64
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2 		NK6 homeobox 2 0.695 0.500 2.9E-02
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD 		tubulin folding cofactor D 0.599 0.615 1.0E-07
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		gap junction protein gamma 2 0.593 0.692 1.0E-02
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5 		glutaredoxin 5 0.659 0.538 0.75
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		OPA1 mitochondrial dynamin like GTPase 0.510 0.846 0.99
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		heat shock protein family D (Hsp60) member 1 0.432 0.808 0.99
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0
Entrez Id: 8560
Gene Symbol: DEGS1
DEGS1 		delta 4-desaturase, sphingolipid 1 0.621 0.731 0.14
CUI: C1859520
Disease: Progressive spasticity
Progressive spasticity 		phenotype 0.100 None 0 0