Source: HPO

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: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.450 strong 1.000 0 0 2001 2017
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
ATP binding cassette subfamily D member 1 0.563 0.731 1.00
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
tRNA 0.563 0.731
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 51081
Gene Symbol: MRPS7
MRPS7
mitochondrial ribosomal protein S7 0.722 0.500 1.3E-03
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
peroxisomal biogenesis factor 10 0.584 0.654 5.4E-04
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12
peroxisomal biogenesis factor 12 0.601 0.615 9.5E-16
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5194
Gene Symbol: PEX13
PEX13
peroxisomal biogenesis factor 13 0.597 0.654 5.9E-05
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5195
Gene Symbol: PEX14
PEX14
peroxisomal biogenesis factor 14 0.592 0.692 0.23
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2
VANGL planar cell polarity protein 2 0.588 0.615 0.84
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
peroxisomal biogenesis factor 3 0.595 0.731 1.6E-02
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 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: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 0.579 0.731
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 4574
Gene Symbol: TRNS1
TRNS1
tRNA 0.555 0.808
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 26123
Gene Symbol: TCTN3
TCTN3
tectonic family member 3 0.566 0.615 4.2E-12
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
GLI family zinc finger 3 0.436 0.846 1.00
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 4512
Gene Symbol: COX1
COX1
cytochrome c oxidase subunit I 0.441 0.885
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0
Entrez Id: 4514
Gene Symbol: COX3
COX3
cytochrome c oxidase III 0.546 0.808
CUI: C0001403
Disease: Addison Disease
Addison Disease
disease 0.100 None 0 0