Source: ALL

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: 3030
Gene Symbol: HADHA
HADHA 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.800 None 1.000 36 18 1994 2019
Entrez Id: 3032
Gene Symbol: HADHB
HADHB 		hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 0.619 0.692 1.5E-11
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.780 definitive 1.000 15 17 1996 2019
Entrez Id: 100129696
Gene Symbol: INHCAP
INHCAP 		inhibitor of carbonic anhydrase pseudogene 0.890 0.231
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.020 None 1.000 2 0 2003 2010
Entrez Id: 56658
Gene Symbol: TRIM39
TRIM39 		tripartite motif containing 39 0.792 0.462 0.99
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.020 None 1.000 2 0 2003 2010
Entrez Id: 56994
Gene Symbol: CHPT1
CHPT1 		choline phosphotransferase 1 0.474 0.846 2.4E-04
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.020 None 1.000 2 0 2010 2017
Entrez Id: 1962
Gene Symbol: EHHADH
EHHADH 		enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase 0.670 0.500 5.2E-10
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.020 None 1.000 2 0 1999 2000
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20 		solute carrier family 25 member 20 0.563 0.769 1.2E-07
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 79947
Gene Symbol: DHDDS
DHDDS 		dehydrodolichyl diphosphate synthase subunit 0.468 0.885 0.25
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		G elongation factor mitochondrial 2 0.736 0.269 1.5E-18
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 92399
Gene Symbol: MRRF
MRRF 		mitochondrial ribosome recycling factor 0.931 0.192 4.4E-07
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 9377
Gene Symbol: COX5A
COX5A 		cytochrome c oxidase subunit 5A 0.515 0.846 0.49
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4547
Gene Symbol: MTTP
MTTP 		microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 4490
Gene Symbol: MT1B
MT1B 		metallothionein 1B 0.585 0.731 5.4E-03
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		cytochrome c oxidase subunit 8A 0.400 0.846 0.12
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1371
Gene Symbol: CPOX
CPOX 		coproporphyrinogen oxidase 0.488 0.846 0.17
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1374
Gene Symbol: CPT1A
CPT1A 		carnitine palmitoyltransferase 1A 0.555 0.808 5.1E-09
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2548
Gene Symbol: GAA
GAA 		glucosidase alpha, acid 0.631 0.577 2.8E-18
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2632
Gene Symbol: GBE1
GBE1 		1,4-alpha-glucan branching enzyme 1 0.612 0.654 1.1E-12
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 3033
Gene Symbol: HADH
HADH 		hydroxyacyl-CoA dehydrogenase 0.650 0.538 6.6E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 1998 1998
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		disease 0.010 None 1.000 1 0 2019 2019