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: 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: 55024
Gene Symbol: BANK1
BANK1 		B cell scaffold protein with ankyrin repeats 1 0.653 0.538 4.8E-12
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.700 None 0.955 5 0 2008 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		protocadherin 19 0.599 0.462 1.00
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease 0.400 None 0.923 5 0 2009 2018
Entrez Id: 6696
Gene Symbol: SPP1
SPP1 		secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.500 None 0.952 5 0 1998 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.800 None 0.977 5 0 1991 2020
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: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
B-CELL MALIGNANCY, LOW-GRADE 		disease 0.400 None 0.941 5 0 1992 2019
Entrez Id: 7332
Gene Symbol: UBE2L3
UBE2L3 		ubiquitin conjugating enzyme E2 L3 0.644 0.615 0.84
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.490 None 0.941 5 0 2008 2020
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: 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: 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: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease 0.520 None 1.000 4 0 2004 2017
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: 2313
Gene Symbol: FLI1
FLI1 		Fli-1 proto-oncogene, ETS transcription factor 0.468 0.692 0.99
CUI: C0279980
Disease: Extra-osseous Ewing's sarcoma
Extra-osseous Ewing's sarcoma 		disease 0.310 None 1.000 4 0 1997 2012
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0003810
Disease: Sertoli-Leydig cell tumor of ovary
Sertoli-Leydig cell tumor of ovary 		disease 0.360 None 1.000 4 0 2011 2017
Entrez Id: 23405
Gene Symbol: DICER1
DICER1 		dicer 1, ribonuclease III 0.446 0.846 1.00
CUI: C0018413
Disease: Gynandroblastoma
Gynandroblastoma 		disease 0.330 None 1.000 4 0 2011 2018
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: C0206723
Disease: Sertoli-Leydig Cell Tumor
Sertoli-Leydig Cell Tumor 		disease 0.400 None 1.000 4 0 2011 2019
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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease 0.600 None 0.947 4 0 2005 2018