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: 126
Gene Symbol: ADH1C
ADH1C 		alcohol dehydrogenase 1C (class I), gamma polypeptide 0.547 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		ATP synthase F0 subunit 6 0.541 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		cytochrome b 0.529 0.808
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4536
Gene Symbol: ND2
ND2 		MTND2 0.601 0.615
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.110 None 1.000 0 0 2007 2007
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4539
Gene Symbol: ND4L
ND4L 		NADH dehydrogenase, subunit 4L (complex I) 0.805 0.308
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5 		NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.180 None 1.000 0 0 1994 2016
Entrez Id: 4558
Gene Symbol: TRNF
TRNF 		tRNA 0.582 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4564
Gene Symbol: TRNH
TRNH 		tRNA 0.597 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		tRNA 0.608 0.577
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		tRNA 0.534 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4572
Gene Symbol: TRNQ
TRNQ 		tRNA 0.590 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1 		tRNA 0.555 0.808
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2 		tRNA 0.579 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4577
Gene Symbol: TRNV
TRNV 		tRNA 0.670 0.423
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		tRNA 0.563 0.731
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS 		ATXN8 opposite strand lncRNA 0.650 0.423
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8 		ataxin 8 0.743 0.269
CUI: C0013421
Disease: Dystonia
Dystonia 		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: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0