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: 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: 339855
Gene Symbol: KY
KY 		kyphoscoliosis peptidase 0.736 0.231 1.5E-10
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 26058
Gene Symbol: GIGYF2
GIGYF2 		GRB10 interacting GYF protein 2 0.711 0.269 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 199857
Gene Symbol: ALG14
ALG14 		ALG14 UDP-N-acetylglucosaminyltransferase subunit 0.722 0.308 9.4E-04
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 100134444
Gene Symbol: KCNJ18
KCNJ18 		potassium inwardly rectifying channel subfamily J member 18 0.722 0.346
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 112812
Gene Symbol: FDX2
FDX2 		ferredoxin 2 0.780 0.346 1.7E-03
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: 272
Gene Symbol: AMPD3
AMPD3 		adenosine monophosphate deaminase 3 0.743 0.385 1.1E-12
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: 80207
Gene Symbol: OPA3
OPA3 		outer mitochondrial membrane lipid metabolism regulator OPA3 0.653 0.385 0.57
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: 23025
Gene Symbol: UNC13A
UNC13A 		unc-13 homolog A 0.705 0.423 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 23479
Gene Symbol: ISCU
ISCU 		iron-sulfur cluster assembly enzyme 0.695 0.423 4.1E-02
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: 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: 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: 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: 22880
Gene Symbol: MORC2
MORC2 		MORC family CW-type zinc finger 2 0.626 0.462 1.00
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2 		ubiquilin 2 0.656 0.462 0.85
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 34
Gene Symbol: ACADM
ACADM 		acyl-CoA dehydrogenase medium chain 0.638 0.462 2.1E-12
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: 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: 1639
Gene Symbol: DCTN1
DCTN1 		dynactin subunit 1 0.597 0.500 8.4E-02
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK 		deoxyguanosine kinase 0.593 0.500 3.7E-07
CUI: C0037763
Disease: Spasm
Spasm 		phenotype 0.100 None 0 0