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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5 		NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4558
Gene Symbol: TRNF
TRNF 		tRNA 0.582 0.731
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4565
Gene Symbol: TRNI
TRNI 		tRNA 0.743 0.385
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		tRNA 0.608 0.577
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		tRNA 0.534 0.731
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4571
Gene Symbol: TRNP
TRNP 		tRNA 0.792 0.423
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4577
Gene Symbol: TRNV
TRNV 		tRNA 0.670 0.423
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		tRNA 0.563 0.731
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		ATXN8 opposite strand lncRNA 0.650 0.423
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8 		ataxin 8 0.743 0.269
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118 		small nucleolar RNA, C/D box 118 0.686 0.462
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		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: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		SPG11 vesicle trafficking associated, spatacsin 0.576 0.538 1.6E-39
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 1.000 0 0 2009 2009
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		rotatin 0.619 0.654 9.0E-34
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L 		RPGRIP1 like 0.534 0.769 4.1E-31
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0