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: 55739
Gene Symbol: NAXD
NAXD 		NAD(P)HX dehydratase 0.839 0.231 7.0E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 54916
Gene Symbol: TMEM260
TMEM260 		transmembrane protein 260 0.769 0.423 4.7E-19
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 2653
Gene Symbol: GCSH
GCSH 		glycine cleavage system protein H 0.760 0.385 1.6E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 388962
Gene Symbol: BOLA3
BOLA3 		bolA family member 3 0.760 0.231 0.15
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 122961
Gene Symbol: ISCA2
ISCA2 		iron-sulfur cluster assembly 2 0.743 0.231 2.4E-08
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 1
Entrez Id: 128240
Gene Symbol: NAXE
NAXE 		NAD(P)HX epimerase 0.743 0.346 2.4E-06
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 22845
Gene Symbol: DOLK
DOLK 		dolichol kinase 0.736 0.385 1.2E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 7259
Gene Symbol: TSPYL1
TSPYL1 		TSPY like 1 0.705 0.500 5.6E-07
CUI: C1858430
Disease: Death in infancy
Death in infancy 		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: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		NAD kinase 2, mitochondrial 0.691 0.346 6.5E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		EMG1 N1-specific pseudouridine methyltransferase 0.686 0.615 1.5E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 23432
Gene Symbol: GPR161
GPR161 		G protein-coupled receptor 161 0.686 0.462 3.5E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 7284
Gene Symbol: TUFM
TUFM 		Tu translation elongation factor, mitochondrial 0.678 0.615 4.2E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 23171
Gene Symbol: GPD1L
GPD1L 		glycerol-3-phosphate dehydrogenase 1 like 0.674 0.308 3.8E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 275
Gene Symbol: AMT
AMT 		aminomethyltransferase 0.674 0.692 2.7E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		lipoyltransferase 1 0.674 0.462 3.8E-08
CUI: C1858430
Disease: Death in infancy
Death in infancy 		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: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 23529
Gene Symbol: CLCF1
CLCF1 		cardiotrophin like cytokine factor 1 0.670 0.462 0.95
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8818
Gene Symbol: DPM2
DPM2 		dolichyl-phosphate mannosyltransferase subunit 2, regulatory 0.666 0.500 0.32
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		tRNA splicing endonuclease subunit 54 0.659 0.500 1.8E-07
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 145873
Gene Symbol: MESP2
MESP2 		mesoderm posterior bHLH transcription factor 2 0.653 0.462 3.1E-06
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 60386
Gene Symbol: SLC25A19
SLC25A19 		solute carrier family 25 member 19 0.653 0.577 0.65
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3 		NADH:ubiquinone oxidoreductase complex assembly factor 3 0.650 0.577 5.3E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 23129
Gene Symbol: PLXND1
PLXND1 		plexin D1 0.647 0.577 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0