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: 3736
Gene Symbol: KCNA1
KCNA1 		potassium voltage-gated channel subfamily A member 1 0.573 0.577 7.6E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		collagen type IV alpha 1 chain 0.484 0.731 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5444
Gene Symbol: PON1
PON1 		paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.110 None 1.000 0 0 2002 2002
Entrez Id: 5420
Gene Symbol: PODXL
PODXL 		podocalyxin like 0.551 0.731 1.0E-03
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0037763
Disease: Spasm
Spasm 		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: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5445
Gene Symbol: PON2
PON2 		paraoxonase 2 0.566 0.808 5.4E-05
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5446
Gene Symbol: PON3
PON3 		paraoxonase 3 0.663 0.692 2.1E-07
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 54822
Gene Symbol: TRPM7
TRPM7 		transient receptor potential cation channel subfamily M member 7 0.531 0.731 5.2E-16
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 54832
Gene Symbol: VPS13C
VPS13C 		vacuolar protein sorting 13 homolog C 0.653 0.346 7.6E-49
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 55737
Gene Symbol: VPS35
VPS35 		VPS35 retromer complex component 0.656 0.500 0.97
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1 		glycosyltransferase 8 domain containing 1 0.711 0.462 1.1E-08
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		peripherin 0.623 0.462 4.8E-14
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0037763
Disease: Spasm
Spasm 		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: C0037763
Disease: Spasm
Spasm 		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: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		laminin subunit alpha 2 0.553 0.692 2.4E-47
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5230
Gene Symbol: PGK1
PGK1 		phosphoglycerate kinase 1 0.542 0.769 0.77
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 3939
Gene Symbol: LDHA
LDHA 		lactate dehydrogenase A 0.507 0.808 6.9E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10 		coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		ataxin 3 0.521 0.808 0.11
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		tRNA 0.563 0.731
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		neurofilament heavy 0.588 0.769 2.7E-12
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0