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: 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: 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: 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: 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: 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: 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: 26154
Gene Symbol: ABCA12
ABCA12 		ATP binding cassette subfamily A member 12 0.610 0.654 2.9E-15
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 0.700 limited 1.000 4 0 2003 2020
Entrez Id: 3663
Gene Symbol: IRF5
IRF5 		interferon regulatory factor 5 0.489 0.731 9.0E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.700 None 0.949 4 0 2005 2020
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		protein tyrosine phosphatase non-receptor type 11 0.385 0.923 1.00
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		disease 1.000 None 0.983 4 0 2000 2020
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		sodium voltage-gated channel alpha subunit 9 0.543 0.615 4.8E-19
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		disease 0.570 None 1.000 4 0 2006 2020
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17 		DDB1 and CUL4 associated factor 17 0.653 0.577 3.7E-07
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		disease 0.800 None 1.000 4 0 2008 2020
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		sequestosome 1 0.428 0.885 8.6E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.700 None 0.974 4 0 2009 2020
Entrez Id: 11277
Gene Symbol: TREX1
TREX1 		three prime repair exonuclease 1 0.517 0.808 0.58
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME 		disease 0.900 strong 0.977 3 0 2000 2020
Entrez Id: 2243
Gene Symbol: FGA
FGA 		fibrinogen alpha chain 0.573 0.769 1.2E-13
CUI: C2584774
Disease: Congenital hypofibrinogenemia
Congenital hypofibrinogenemia 		disease 0.790 strong 0.933 3 0 1992 2020
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		ATRX chromatin remodeler 0.452 0.808 1.00
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		disease 0.720 definitive 1.000 3 0 1995 2020
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		BCL6 corepressor 0.471 0.808 1.00
CUI: C1846265
Disease: Microphthalmia, syndromic 2
Microphthalmia, syndromic 2 		disease 0.800 strong 1.000 3 0 2004 2020
Entrez Id: 57674
Gene Symbol: RNF213
RNF213 		ring finger protein 213 0.628 0.538 4.9E-55
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		disease 0.500 None 0.953 3 0 2011 2020
Entrez Id: 57674
Gene Symbol: RNF213
RNF213 		ring finger protein 213 0.628 0.538 4.9E-55
CUI: C2931384
Disease: Moyamoya disease 1
Moyamoya disease 1 		disease 0.500 None 0.962 3 0 2011 2020
Entrez Id: 6524
Gene Symbol: SLC5A2
SLC5A2 		solute carrier family 5 member 2 0.499 0.769 4.9E-14
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		disease 0.800 strong 1.000 3 0 2002 2020
Entrez Id: 6775
Gene Symbol: STAT4
STAT4 		signal transducer and activator of transcription 4 0.471 0.769 0.77
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.700 None 0.961 3 0 2002 2020
Entrez Id: 6926
Gene Symbol: TBX3
TBX3 		T-box transcription factor 3 0.525 0.769 0.99
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		disease 1.000 None 1.000 3 0 1997 2020
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease 1.000 None 0.953 3 0 1987 2020
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		solute carrier family 2 member 10 0.550 0.615 1.6E-08
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
ARTERIAL TORTUOSITY SYNDROME 		disease 0.800 strong 0.913 3 0 2003 2020
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		disease 0.800 definitive 0.950 2 0 1996 2020