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: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
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: 846
Gene Symbol: CASR
CASR 		calcium sensing receptor 0.410 0.846 4.7E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		sequestosome 1 0.428 0.885 8.6E-04
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1 		heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A 		PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		survival of motor neuron 1, telomeric 0.454 0.769 1.6E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4 		erb-b2 receptor tyrosine kinase 4 0.455 0.846 1.00
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: 6607
Gene Symbol: SMN2
SMN2 		survival of motor neuron 2, centromeric 0.459 0.769 0.10
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 7415
Gene Symbol: VCP
VCP 		valosin containing protein 0.469 0.923 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 2521
Gene Symbol: FUS
FUS 		FUS RNA binding protein 0.470 0.846 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		mitofusin 2 0.471 0.846 0.99
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 29968
Gene Symbol: PSAT1
PSAT1 		phosphoserine aminotransferase 1 0.478 0.846 1.1E-08
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2 		ataxin 2 0.482 0.808 0.85
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		ubiquitin C-terminal hydrolase L1 0.482 0.885 0.99
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
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: 26227
Gene Symbol: PHGDH
PHGDH 		phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP 		TAR DNA binding protein 0.493 0.808 0.99
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0