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: 51103
Gene Symbol: NDUFAF1
NDUFAF1
NADH:ubiquinone oxidoreductase complex assembly factor 1 0.700 0.308 3.6E-03
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR
mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
tRNA nucleotidyl transferase 1 0.700 0.192 1.6E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51081
Gene Symbol: MRPS7
MRPS7
mitochondrial ribosomal protein S7 0.722 0.500 1.3E-03
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
atlastin GTPase 1 0.593 0.654 0.98
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3
exosome component 3 0.610 0.692 2.4E-04
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
forkhead box P3 0.368 0.846 0.99
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 50937
Gene Symbol: CDON
CDON
cell adhesion associated, oncogene regulated 0.601 0.731 2.1E-15
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5213
Gene Symbol: PFKM
PFKM
phosphofructokinase, muscle 0.666 0.500 3.8E-18
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
ATPase H+ transporting V1 subunit A 0.579 0.615 0.87
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.575 0.654 0.96
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5624
Gene Symbol: PROC
PROC
protein C, inactivator of coagulation factors Va and VIIIa 0.504 0.808 1.9E-05
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
histone deacetylase 8 0.511 0.885 0.98
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55750
Gene Symbol: AGK
AGK
acylglycerol kinase 0.650 0.654 6.0E-09
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
solute carrier family 30 member 10 0.578 0.654 0.98
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
vacuolar protein sorting 13 homolog D 0.769 0.346 1.1E-06
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
aspartyl-tRNA synthetase 2, mitochondrial 0.638 0.577 9.8E-13
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 55005
Gene Symbol: RMND1
RMND1
required for meiotic nuclear division 1 homolog 0.674 0.462 1.1E-09
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
tRNA isopentenyltransferase 1 0.621 0.692 4.1E-11
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
kinesin family member 1A 0.559 0.692 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 54676
Gene Symbol: GTPBP2
GTPBP2
GTP binding protein 2 0.736 0.423 0.32
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
transmembrane protein 106B 0.590 0.462 0.33
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype 0.100 None 0 0