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: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		ATXN8 opposite strand lncRNA 0.650 0.423
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B 		sodium voltage-gated channel beta subunit 1 0.575 0.538 0.10
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A 		sodium voltage-gated channel alpha subunit 3 0.617 0.538 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.410 None 0.500 0 0 2009 2009
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7 		ataxin 7 0.581 0.654 0.96
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6095
Gene Symbol: RORA
RORA 		RAR related orphan receptor A 0.533 0.808 0.40
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		aldehyde dehydrogenase 18 family member A1 0.551 0.769 8.1E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 5860
Gene Symbol: QDPR
QDPR 		quinoid dihydropteridine reductase 0.691 0.500 1.5E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 5982
Gene Symbol: RFC2
RFC2 		replication factor C subunit 2 0.520 0.769 2.2E-06
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 60481
Gene Symbol: ELOVL5
ELOVL5 		ELOVL fatty acid elongase 5 0.638 0.462 0.93
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 60675
Gene Symbol: PROK2
PROK2 		prokineticin 2 0.555 0.769 1.4E-02
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11 		trafficking protein particle complex 11 0.650 0.500 4.6E-10
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6391
Gene Symbol: SDHC
SDHC 		succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2 		solute carrier family 18 member A2 0.554 0.769 7.6E-02
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6575
Gene Symbol: SLC20A2
SLC20A2 		solute carrier family 20 member 2 0.638 0.577 0.97
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.110 None 1.000 0 0 2012 2012