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: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		acyl-CoA oxidase 1 0.610 0.731 6.2E-02
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: 9255
Gene Symbol: AIMP1
AIMP1 		aminoacyl tRNA synthetase complex interacting multifunctional protein 1 0.566 0.769 3.0E-07
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase 0.610 0.808 3.6E-19
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 249
Gene Symbol: ALPL
ALPL 		alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
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: 287
Gene Symbol: ANK2
ANK2 		ankyrin 2 0.626 0.538 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2 		ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		aristaless related homeobox 0.516 0.654 0.91
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1 		achaete-scute family bHLH transcription factor 1 0.552 0.692 0.68
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: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 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: 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: 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: 28952
Gene Symbol: CCDC22
CCDC22 		coiled-coil domain containing 22 0.595 0.692 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 10225
Gene Symbol: CD96
CD96 		CD96 molecule 0.592 0.692 1.4E-11
CUI: C1858430
Disease: Death in infancy
Death in infancy 		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: 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: 1272
Gene Symbol: CNTN1
CNTN1 		contactin 1 0.599 0.577 0.15
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY 		Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 57511
Gene Symbol: COG6
COG6 		component of oligomeric golgi complex 6 0.644 0.577 6.4E-16
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		carnitine palmitoyltransferase 2 0.542 0.769 4.6E-10
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 9244
Gene Symbol: CRLF1
CRLF1 		cytokine receptor like factor 1 0.597 0.654 4.0E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0