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: 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: 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
CUI: C1853564
Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes
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: 2521
Gene Symbol: FUS
FUS 		FUS RNA binding protein 0.470 0.846 1.00
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
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
Entrez Id: 4514
Gene Symbol: COX3
COX3 		cytochrome c oxidase III 0.546 0.808
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		disease 0.400 None 1.000 5 0 1996 2002
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease 0.320 None 1.000 5 0 1997 2011
Entrez Id: 8820
Gene Symbol: HESX1
HESX1 		HESX homeobox 1 0.561 0.654 8.0E-04
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease 0.310 None 1.000 5 0 2007 2014
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 		disease 0.700 strong 1.000 5 0 2008 2017
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease 0.560 strong 1.000 5 0 2010 2017
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1 		activin A receptor like type 1 0.493 0.769 9.7E-04
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 5 0 2012 2014
Entrez Id: 10273
Gene Symbol: STUB1
STUB1 		STIP1 homology and U-box containing protein 1 0.544 0.692 1.9E-02
CUI: C4014261
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 		disease 0.940 None 1.000 4 0 2003 2019
Entrez Id: 10312
Gene Symbol: TCIRG1
TCIRG1 		T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 0.565 0.692 2.4E-13
CUI: C1318518
Disease: Infantile malignant osteopetrosis
Infantile malignant osteopetrosis 		disease 0.390 None 1.000 4 0 2000 2018
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1 		IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 0.300 None 1.000 4 0 2008 2013
Entrez Id: 10320
Gene Symbol: IKZF1
IKZF1 		IKAROS family zinc finger 1 0.533 0.769 1.00
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease 0.400 None 1.000 4 0 2002 2018
Entrez Id: 1286
Gene Symbol: COL4A4
COL4A4 		collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant 		disease 0.530 strong 1.000 4 0 1997 2018