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: C0334580
Disease: Protoplasmic astrocytoma
Protoplasmic astrocytoma 		disease 0.300 None 1.000 6 0 2009 2014
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: 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: 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: 1286
Gene Symbol: COL4A4
COL4A4 		collagen type IV alpha 4 chain 0.644 0.500 6.7E-16
CUI: C2931253
Disease: Alport syndrome, dominant type
Alport syndrome, dominant type 		disease 0.300 None 1.000 4 0 1997 2009
Entrez Id: 2022
Gene Symbol: ENG
ENG 		endoglin 0.446 0.846 1.00
CUI: C1701939
Disease: Familial pulmonary arterial hypertension
Familial pulmonary arterial hypertension 		disease 0.300 None 1.000 4 0 2004 2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0036769
Disease: Sertoli Cell Tumor
Sertoli Cell Tumor 		disease 0.300 None 1.000 4 0 2011 2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0334401
Disease: Malignant Granulosa Cell Tumor
Malignant Granulosa Cell Tumor 		disease 0.300 None 1.000 4 0 2011 2011
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C1567257
Disease: Granulosa Cell Cancer
Granulosa Cell Cancer 		disease 0.300 None 1.000 4 0 2011 2011
Entrez Id: 28444
Gene Symbol: IGHV3-21
IGHV3-21 		immunoglobulin heavy variable 3-21 0.780 0.192
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		disease 0.300 None 1.000 4 0 2011 2013
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C1519086
Disease: Pilomyxoid astrocytoma
Pilomyxoid astrocytoma 		disease 0.300 None 1.000 4 0 2007 2012
Entrez Id: 3857
Gene Symbol: KRT9
KRT9 		keratin 9 0.678 0.346 1.1E-06
CUI: C0343110
Disease: Epidermolytic palmoplantar keratoderma of Vorner
Epidermolytic palmoplantar keratoderma of Vorner 		disease 0.300 None 1.000 4 0 2002 2014
Entrez Id: 412
Gene Symbol: STS
STS 		steroid sulfatase 0.431 0.846 0.81
CUI: C4274085
Disease: Syndromic recessive X-linked ichthyosis
Syndromic recessive X-linked ichthyosis 		disease 0.300 None 1.000 4 0 1988 2008
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C1836723
Disease: Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 		disease 0.300 None 1.000 4 0 1976 2015
Entrez Id: 4233
Gene Symbol: MET
MET 		MET proto-oncogene, receptor tyrosine kinase 0.380 0.846 0.97
CUI: C4085248
Disease: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 		phenotype 0.300 None 1.000 4 0 1976 2015
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		disease 0.300 None 1.000 4 0 2011 2013
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		SRY-box transcription factor 2 0.405 0.808 0.71
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		disease 0.300 None 1.000 4 0 2007 2014
Entrez Id: 140628
Gene Symbol: GATA5
GATA5 		GATA binding protein 5 0.578 0.615 0.28
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 3 0 2012 2013
Entrez Id: 2314
Gene Symbol: FLII
FLII 		FLII actin remodeling protein 0.520 0.808 5.5E-12
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease 0.300 None 1.000 3 0 1995 2005
Entrez Id: 2322
Gene Symbol: FLT3
FLT3 		fms related receptor tyrosine kinase 3 0.462 0.654 0.61
CUI: C2826025
Disease: Mixed phenotype acute leukemia
Mixed phenotype acute leukemia 		disease 0.300 None 1.000 3 0 2015 2017
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		GATA binding protein 3 0.415 0.846 0.90
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 0.300 None 1.000 3 0 2013 2013
Entrez Id: 2625
Gene Symbol: GATA3
GATA3 		GATA binding protein 3 0.415 0.846 0.90
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		disease 0.300 None 1.000 3 0 2013 2013
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		GATA binding protein 4 0.458 0.846 0.49
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 3 0 2011 2012
Entrez Id: 2627
Gene Symbol: GATA6
GATA6 		GATA binding protein 6 0.478 0.808 1.00
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		disease 0.300 None 1.000 3 0 2012 2012
Entrez Id: 2700
Gene Symbol: GJA3
GJA3 		gap junction protein alpha 3 0.647 0.346 1.3E-03
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		disease 0.300 None 1.000 3 0 2005 2011