Source: ORPHANET

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: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.882 7 0 1990 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease 0.600 None 1.000 7 0 2009 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease 0.400 None 1.000 7 0 2009 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma
disease 0.580 None 0.933 7 0 2009 2019
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10 0.623 0.462 5.4E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.500 None 0.955 7 0 2014 2020
Entrez Id: 721
Gene Symbol: C4B
C4B
complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.600 None 0.944 7 0 1985 2019
Entrez Id: 7292
Gene Symbol: TNFSF4
TNFSF4
TNF superfamily member 4 0.540 0.808 4.9E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.600 None 0.967 7 0 2008 2019
Entrez Id: 10318
Gene Symbol: TNIP1
TNIP1
TNFAIP3 interacting protein 1 0.564 0.769 0.48
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.926 6 0 2009 2019
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.800 None 0.952 6 0 2004 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0280793
Disease: Mixed Oligodendroglioma-Astrocytoma
Mixed Oligodendroglioma-Astrocytoma
disease 0.510 None 1.000 6 0 2009 2015
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma
disease 0.300 None 1.000 6 0 2009 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0334581
Disease: Gemistocytic astrocytoma
Gemistocytic astrocytoma
disease 0.310 None 1.000 6 0 2009 2014
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0334582
Disease: Fibrillary Astrocytoma
Fibrillary Astrocytoma
disease 0.320 None 1.000 6 0 2009 2019
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0431108
Disease: Anaplastic Oligoastrocytoma
Anaplastic Oligoastrocytoma
disease 0.310 None 1.000 6 0 2009 2014
Entrez Id: 3654
Gene Symbol: IRAK1
IRAK1
interleukin 1 receptor associated kinase 1 0.506 0.808 0.99
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.500 None 1.000 6 0 2007 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
Developmental Delay, Epilepsy, and Neonatal Diabetes
disease 0.570 None 1.000 6 0 2006 2018
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
Meis homeobox 2 0.601 0.808 1.00
CUI: C4225666
Disease: CHROMOSOME 15q14 DELETION SYNDROME
CHROMOSOME 15q14 DELETION SYNDROME
disease 0.300 None 1.000 6 0 2007 2014
Entrez Id: 640
Gene Symbol: BLK
BLK
BLK proto-oncogene, Src family tyrosine kinase 0.585 0.769 8.3E-14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.976 6 0 2008 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
disease 0.900 None 0.968 6 0 2003 2020
Entrez Id: 7128
Gene Symbol: TNFAIP3
TNFAIP3
TNF alpha induced protein 3 0.481 0.808 1.00
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.929 6 0 2008 2019
Entrez Id: 720
Gene Symbol: C4A
C4A
complement C4A (Rodgers blood group) 0.563 0.769 1.5E-11
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.700 None 0.957 6 0 1987 2018
Entrez Id: 2521
Gene Symbol: FUS
FUS
FUS RNA binding protein 0.470 0.846 1.00
Juvenile amyotrophic lateral sclerosis
disease 0.350 None 1.000 5 0 2010 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
SMAD family member 4 0.401 0.808 1.00
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome
disease 0.800 None 1.000 5 0 2010 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease 0.500 None 1.000 5 0 2008 2018
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease 0.640 None 1.000 5 0 1999 2015