Source: INFERRED

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: 5805
Gene Symbol: PTS
PTS 		6-pyruvoyltetrahydropterin synthase 0.636 0.654 6.5E-06
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		adenosine monophosphate deaminase 2 0.663 0.577 4.5E-07
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7 		ATP binding cassette subfamily B member 7 0.678 0.385 1.00
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1 		BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 857
Gene Symbol: CAV1
CAV1 		caveolin 1 0.388 0.885 8.3E-03
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 22948
Gene Symbol: CCT5
CCT5 		chaperonin containing TCP1 subunit 5 0.663 0.462 1.00
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		chromosome 12 open reading frame 65 0.678 0.346 0.21
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1 		cytochrome c oxidase subunit I 0.441 0.885
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2 		cytochrome c oxidase subunit II 0.352 0.962
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 10613
Gene Symbol: ERLIN1
ERLIN1 		ER lipid raft associated 1 0.736 0.308 0.18
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		fukutin related protein 0.513 0.731 9.8E-06
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 51501
Gene Symbol: HIKESHI
HIKESHI 		heat shock protein nuclear import factor hikeshi 0.751 0.385 0.52
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 1
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 1
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		kinesin family member 1A 0.559 0.692 1.00
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 1
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C 		kinesin family member 1C 0.700 0.500 0.72
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 9440
Gene Symbol: MED17
MED17 		mediator complex subunit 17 0.769 0.269 3.1E-09
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1 		NADH dehydrogenase, subunit 1 (complex I) 0.522 0.769
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4538
Gene Symbol: ND4
ND4 		NADH dehydrogenase, subunit 4 (complex I) 0.546 0.769
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4540
Gene Symbol: ND5
ND5 		NADH dehydrogenase, subunit 5 (complex I) 0.531 0.769
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4541
Gene Symbol: ND6
ND6 		NADH dehydrogenase, subunit 6 (complex I) 0.544 0.808
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1 		NIPA magnesium transporter 1 0.682 0.462 5.9E-03
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 4693
Gene Symbol: NDP
NDP 		norrin cystine knot growth factor NDP 0.566 0.692 0.65
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0