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: 9451
Gene Symbol: EIF2AK3
EIF2AK3 		eukaryotic translation initiation factor 2 alpha kinase 3 0.501 0.808 2.8E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		WASH complex subunit 5 0.572 0.615 8.3E-18
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: 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: 72
Gene Symbol: ACTG2
ACTG2 		actin gamma 2, smooth muscle 0.505 0.808 7.1E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L 		REV3 like, DNA directed polymerase zeta catalytic subunit 0.588 0.654 1.00
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: 6091
Gene Symbol: ROBO1
ROBO1 		roundabout guidance receptor 1 0.535 0.731 7.3E-16
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		sodium voltage-gated channel alpha subunit 4 0.554 0.731 1.3E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		SPARC related modular calcium binding 1 0.565 0.846 9.5E-03
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 64359
Gene Symbol: NXN
NXN 		nucleoredoxin 0.584 0.577 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B 		bone morphogenetic protein receptor type 1B 0.573 0.615 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 6628
Gene Symbol: SNRPB
SNRPB 		small nuclear ribonucleoprotein polypeptides B and B1 0.595 0.731 0.71
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 6821
Gene Symbol: SUOX
SUOX 		sulfite oxidase 0.638 0.615 9.4E-07
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 7019
Gene Symbol: TFAM
TFAM 		transcription factor A, mitochondrial 0.529 0.731 0.17
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		synthesis of cytochrome C oxidase 2 0.479 0.846 7.5E-07
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4292
Gene Symbol: MLH1
MLH1 		mutL homolog 1 0.399 0.808 3.4E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6 		histone deacetylase 6 0.465 0.846 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		ASXL transcriptional regulator 1 0.482 0.808 1.3E-14
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 1785
Gene Symbol: DNM2
DNM2 		dynamin 2 0.542 0.769 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0