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: 4952
Gene Symbol: OCRL
OCRL 		OCRL inositol polyphosphate-5-phosphatase 0.553 0.731 1.00
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: 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: 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: 5189
Gene Symbol: PEX1
PEX1 		peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6 		peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10 		peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
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: 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: 57724
Gene Symbol: EPG5
EPG5 		ectopic P-granules autophagy protein 5 homolog 0.623 0.769 1.4E-13
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1 		Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
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: 8200
Gene Symbol: GDF5
GDF5 		growth differentiation factor 5 0.511 0.692 0.67
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3 		peroxisomal biogenesis factor 3 0.595 0.731 1.6E-02
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		peroxisomal biogenesis factor 11 beta 0.612 0.654 1.3E-04
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: 8820
Gene Symbol: HESX1
HESX1 		HESX homeobox 1 0.561 0.654 8.0E-04
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B 		paired like homeobox 2B 0.565 0.731 0.94
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 89884
Gene Symbol: LHX4
LHX4 		LIM homeobox 4 0.621 0.462 1.8E-02
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
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: 9321
Gene Symbol: TRIP11
TRIP11 		thyroid hormone receptor interactor 11 0.595 0.654 1.7E-12
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16 		peroxisomal biogenesis factor 16 0.597 0.615 8.3E-05
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0