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: 4436
Gene Symbol: MSH2
MSH2 		mutS homolog 2 0.406 0.808 0.90
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC 		plectin 0.523 0.808 8.3E-12
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5378
Gene Symbol: PMS1
PMS1 		PMS1 homolog 1, mismatch repair system component 0.569 0.654 1.3E-17
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2 		PMS1 homolog 2, mismatch repair system component 0.484 0.808 4.5E-27
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: 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: 54968
Gene Symbol: TMEM70
TMEM70 		transmembrane protein 70 0.636 0.654 2.9E-02
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: 55670
Gene Symbol: PEX26
PEX26 		peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 55717
Gene Symbol: WDR11
WDR11 		WD repeat domain 11 0.524 0.808 1.4E-08
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
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: 55975
Gene Symbol: KLHL7
KLHL7 		kelch like family member 7 0.581 0.731 4.6E-05
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: 5631
Gene Symbol: PRPS1
PRPS1 		phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		prosaposin 0.532 0.846 0.99
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22 		mitochondrial ribosomal protein S22 0.638 0.500 1.5E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C1858430
Disease: Death in infancy
Death in infancy 		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: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4638
Gene Symbol: MYLK
MYLK 		myosin light chain kinase 0.510 0.846 9.2E-12
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		myosin VB 0.641 0.731 3.4E-23
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		NADH:ubiquinone oxidoreductase subunit A2 0.617 0.577 0.77
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4893
Gene Symbol: NRAS
NRAS 		NRAS proto-oncogene, GTPase 0.390 0.808 0.49
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 4920
Gene Symbol: ROR2
ROR2 		receptor tyrosine kinase like orphan receptor 2 0.498 0.731 1.2E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0