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: 6389
Gene Symbol: SDHA
SDHA 		succinate dehydrogenase complex flavoprotein subunit A 0.517 0.731 2.6E-10
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.700 strong 1.000 4 0 2004 2019
Entrez Id: 3417
Gene Symbol: IDH1
IDH1 		isocitrate dehydrogenase (NADP(+)) 1 0.424 0.808 2.6E-12
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group 0.300 None 1.000 2 0 2011 2011
Entrez Id: 3418
Gene Symbol: IDH2
IDH2 		isocitrate dehydrogenase (NADP(+)) 2 0.434 0.808 0.88
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group 0.300 None 1.000 2 0 2011 2011
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 1.000 definitive 0.951 2 0 1995 2020
Entrez Id: 5745
Gene Symbol: PTH1R
PTH1R 		parathyroid hormone 1 receptor 0.544 0.731 0.57
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group 0.300 None 1.000 2 0 2002 2008
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4 		cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group 0.310 None 1.000 1 0 2006 2015
Entrez Id: 2624
Gene Symbol: GATA2
GATA2 		GATA binding protein 2 0.496 0.654 0.98
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.800 None 0.976 1 0 2002 2019
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA 		platelet derived growth factor receptor alpha 0.415 0.808 1.00
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.800 definitive 0.954 1 0 2003 2020
Entrez Id: 6390
Gene Symbol: SDHB
SDHB 		succinate dehydrogenase complex iron sulfur subunit B 0.474 0.846 2.4E-04
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.800 None 0.971 1 0 1982 2019
Entrez Id: 6391
Gene Symbol: SDHC
SDHC 		succinate dehydrogenase complex subunit C 0.517 0.846 2.0E-04
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group 0.800 strong 0.973 1 0 2000 2019
Entrez Id: 7133
Gene Symbol: TNFRSF1B
TNFRSF1B 		TNF receptor superfamily member 1B 0.425 0.885 0.50
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group 0.510 None 1.000 1 0 2015 2016
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial 		group 0.700 None 1.000 1 0 1983 2019
Entrez Id: 79415
Gene Symbol: CYBC1
CYBC1 		cytochrome b-245 chaperone 1 0.736 0.462 6.0E-04
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease 		group 0.310 None 1.000 1 0 2018 2018
Entrez Id: 940
Gene Symbol: CD28
CD28 		CD28 molecule 0.436 0.885 0.36
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group 0.310 None 1.000 1 0 1994 2015
Entrez Id: 2122
Gene Symbol: MECOM
MECOM 		MDS1 and EVI1 complex locus 0.513 0.731 1.00
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group 0.400 None 1.000 0 0 1994 2018
Entrez Id: 3561
Gene Symbol: IL2RG
IL2RG 		interleukin 2 receptor subunit gamma 0.535 0.769 0.99
CUI: C1279481
Disease: X-Linked Combined Immunodeficiency Diseases
X-Linked Combined Immunodeficiency Diseases 		group 0.800 strong 0.965 0 0 1989 2019
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: 3295
Gene Symbol: HSD17B4
HSD17B4 		hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		phenotype 0.900 None 1.000 3 0 1989 2017
Entrez Id: 6651
Gene Symbol: SON
SON 		SON DNA binding protein 0.565 0.769 1.00
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		phenotype 0.710 None 1.000 3 0 2015 2019
Entrez Id: 7252
Gene Symbol: TSHB
TSHB 		thyroid stimulating hormone subunit beta 0.670 0.538 8.4E-03
CUI: C1848794
Disease: Thyrotropin, Biologically Inactive
Thyrotropin, Biologically Inactive 		phenotype 0.300 None 1.000 3 0 2003 2012
Entrez Id: 8287
Gene Symbol: USP9Y
USP9Y 		ubiquitin specific peptidase 9 Y-linked 0.743 0.269 5.7E-05
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		phenotype 0.300 None 1.000 3 0 1999 2012
Entrez Id: 8287
Gene Symbol: USP9Y
USP9Y 		ubiquitin specific peptidase 9 Y-linked 0.743 0.269 5.7E-05
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		phenotype 0.300 None 1.000 3 0 1999 2012
Entrez Id: 8653
Gene Symbol: DDX3Y
DDX3Y 		DEAD-box helicase 3 Y-linked 0.722 0.269 0.96
CUI: C1507149
Disease: Partial chromosome Y deletion
Partial chromosome Y deletion 		phenotype 0.300 None 1.000 3 0 2000 2012
Entrez Id: 8653
Gene Symbol: DDX3Y
DDX3Y 		DEAD-box helicase 3 Y-linked 0.722 0.269 0.96
CUI: C2931163
Disease: Male sterility due to Y-chromosome deletions
Male sterility due to Y-chromosome deletions 		phenotype 0.300 None 1.000 3 0 2000 2012
Entrez Id: 1009
Gene Symbol: CDH11
CDH11 		cadherin 11 0.512 0.808 1.00
CUI: C1863870
Disease: Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 		phenotype 0.300 None 1.000 2 0 2017 2018