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: 6323
Gene Symbol: SCN1A
SCN1A 		sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease 0.900 definitive 0.974 5 0 2001 2020
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: 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
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: 132884
Gene Symbol: EVC2
EVC2 		EvC ciliary complex subunit 2 0.585 0.692 1.0E-34
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 1.000 definitive 1.000 4 0 2002 2018
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: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		disease 0.960 definitive 1.000 4 0 2000 2018
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		forkhead box C1 0.483 0.846 0.95
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease 0.620 strong 1.000 4 0 1998 2008
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