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: 10560
Gene Symbol: SLC19A2
SLC19A2 		solute carrier family 19 member 2 0.636 0.692 4.3E-04
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		disease 1.000 None 1.000 0 0 1997 2019
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		AFG3 like matrix AAA peptidase subunit 2 0.588 0.462 5.3E-09
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		disease 1.000 None 0.958 0 0 2009 2019
Entrez Id: 1121
Gene Symbol: CHM
CHM 		CHM Rab escort protein 0.592 0.654 1.00
CUI: C0008525
Disease: Choroideremia
Choroideremia 		disease 1.000 None 0.965 0 0 1987 2020
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		disease 1.000 strong 1.000 0 0 1996 2020
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease 		disease 1.000 strong 0.983 0 0 1993 2020
Entrez Id: 1756
Gene Symbol: DMD
DMD 		dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease 1.000 strong 0.980 0 0 1981 2020
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 0 0 1994 2018
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease 1.000 definitive 0.986 0 0 1973 2020
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		disease 1.000 None 1.000 0 0 1991 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		GNAS complex locus 0.420 0.885 0.68
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		disease 1.000 strong 1.000 0 0 1998 2018
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		hypoxanthine phosphoribosyltransferase 1 0.500 0.808 0.94
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		disease 1.000 definitive 0.985 0 0 1971 2020
Entrez Id: 3689
Gene Symbol: ITGB2
ITGB2 		integrin subunit beta 2 0.444 0.923 5.1E-15
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease 1.000 strong 1.000 0 0 1990 2019
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		disease 1.000 None 0.968 0 0 2005 2020
Entrez Id: 3717
Gene Symbol: JAK2
JAK2 		Janus kinase 2 0.385 0.885 0.65
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		disease 1.000 None 0.975 0 0 2005 2020
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		lysosomal associated membrane protein 2 0.552 0.731 0.27
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		disease 1.000 definitive 1.000 0 0 1995 2020
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		disease 1.000 None 0.993 0 0 1993 2020
Entrez Id: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease 1.000 None 0.977 0 0 1982 2020
Entrez Id: 4627
Gene Symbol: MYH9
MYH9 		myosin heavy chain 9 0.505 0.808 1.00
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		disease 1.000 definitive 0.984 0 0 1998 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0206655
Disease: Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma 		disease 1.000 None 0.983 0 0 1993 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		disease 1.000 None 0.979 0 0 1993 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		disease 1.000 None 0.961 0 0 1972 2019
Entrez Id: 5837
Gene Symbol: PYGM
PYGM 		glycogen phosphorylase, muscle associated 0.650 0.577 2.0E-13
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease 1.000 None 0.989 0 0 1983 2020
Entrez Id: 5897
Gene Symbol: RAG2
RAG2 		recombination activating 2 0.507 0.769 2.0E-02
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		disease 1.000 strong 1.000 0 0 1998 2019
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1 		ataxin 1 0.534 0.769 0.97
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
Spinocerebellar Ataxia Type 1 		disease 1.000 None 0.983 0 0 1980 2020
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2 		SH3 domain binding protein 2 0.623 0.654 1.2E-11
CUI: C0008029
Disease: Cherubism
Cherubism 		disease 1.000 None 0.971 0 0 2001 2019