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: 4750
Gene Symbol: NEK1
NEK1 		NIMA related kinase 1 0.575 0.769 1.9E-25
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1 		ATPase Na+/K+ transporting subunit alpha 1 0.601 0.808 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 487
Gene Symbol: ATP2A1
ATP2A1 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 0.682 0.423 1.5E-14
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
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: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 5216
Gene Symbol: PFN1
PFN1 		profilin 1 0.565 0.769 0.73
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 6253
Gene Symbol: RTN2
RTN2 		reticulon 2 0.711 0.385 0.42
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: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 81545
Gene Symbol: FBXO38
FBXO38 		F-box protein 38 0.792 0.115 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 844
Gene Symbol: CASQ1
CASQ1 		calsequestrin 1 0.722 0.423 3.9E-18
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
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: 84876
Gene Symbol: ORAI1
ORAI1 		ORAI calcium release-activated calcium modulator 1 0.520 0.808 1.9E-05
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 85365
Gene Symbol: ALG2
ALG2 		ALG2 alpha-1,3/1,6-mannosyltransferase 0.670 0.423 8.0E-05
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 859
Gene Symbol: CAV3
CAV3 		caveolin 3 0.564 0.692 5.5E-03
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 8675
Gene Symbol: STX16
STX16 		syntaxin 16 0.656 0.538 0.48
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: 899
Gene Symbol: CCNF
CCNF 		cyclin F 0.700 0.615 0.13
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		VAMP associated protein B and C 0.666 0.423 0.58
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9782
Gene Symbol: MATR3
MATR3 		matrin 3 0.631 0.538 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9829
Gene Symbol: DNAJC6
DNAJC6 		DnaJ heat shock protein family (Hsp40) member C6 0.641 0.385 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 8148
Gene Symbol: TAF15
TAF15 		TATA-box binding protein associated factor 15 0.626 0.500 0.17
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0