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: 2160
Gene Symbol: F11
F11
coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency
disease 1.000 strong 1.000 2 0 1981 2019
Entrez Id: 23218
Gene Symbol: NBEAL2
NBEAL2
neurobeachin like 2 0.617 0.769 6.0E-02
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome
disease 1.000 definitive 0.917 2 0 2010 2019
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
ATPase cation transporting 13A2 0.566 0.577 9.0E-09
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME
disease 1.000 None 0.981 2 0 1991 2019
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2
zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease 1.000 limited 0.929 2 0 2000 2018
Entrez Id: 249
Gene Symbol: ALPL
ALPL
alkaline phosphatase, biomineralization associated 0.546 0.769 3.6E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia
disease 1.000 None 1.000 2 0 1987 2019
Entrez Id: 2690
Gene Symbol: GHR
GHR
growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome
disease 1.000 None 0.980 2 0 1987 2020
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome
disease 1.000 None 1.000 2 0 1975 2019
Entrez Id: 285440
Gene Symbol: CYP4V2
CYP4V2
cytochrome P450 family 4 subfamily V member 2 0.670 0.577 2.2E-10
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
disease 1.000 None 0.976 2 0 2004 2019
Entrez Id: 29914
Gene Symbol: UBIAD1
UBIAD1
UbiA prenyltransferase domain containing 1 0.700 0.462 2.0E-02
Schnyder crystalline corneal dystrophy
disease 1.000 strong 0.957 2 0 2007 2019
Entrez Id: 326
Gene Symbol: AIRE
AIRE
autoimmune regulator 0.516 0.808 4.0E-12
Polyglandular Type I Autoimmune Syndrome
disease 1.000 None 0.985 2 0 1991 2020
Entrez Id: 340024
Gene Symbol: SLC6A19
SLC6A19
solute carrier family 6 member 19 0.695 0.577 1.8E-24
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease
disease 1.000 None 1.000 2 0 2004 2019
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
Autoimmune Lymphoproliferative Syndrome
disease 1.000 strong 1.000 2 0 1978 2018
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1
NHL repeat containing E3 ubiquitin protein ligase 1 0.656 0.423 9.4E-02
CUI: C0751783
Disease: Lafora Disease
Lafora Disease
disease 1.000 None 0.980 2 0 2003 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease 1.000 None 1.000 2 0 1991 2018
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: 3845
Gene Symbol: KRAS
KRAS
KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
disease 1.000 None 1.000 2 0 1994 2019
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
keratin 1 0.575 0.654 0.74
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
disease 1.000 None 0.951 2 0 1992 2019
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 1.000 None 0.978 2 0 1995 2020
Entrez Id: 4352
Gene Symbol: MPL
MPL
MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
Congenital amegakaryocytic thrombocytopenia
disease 1.000 strong 1.000 2 0 1994 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 None 1.000 2 0 1992 2019
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
mutS homolog 2 0.406 0.808 0.90
Hereditary Nonpolyposis Colorectal Cancer
disease 1.000 definitive 0.983 2 0 1993 2020
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
disease 1.000 strong 1.000 2 0 2013 2019
Entrez Id: 5313
Gene Symbol: PKLR
PKLR
pyruvate kinase L/R 0.603 0.615 3.5E-07
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase
disease 1.000 strong 1.000 2 0 1991 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease 1.000 None 1.000 2 0 1993 2017
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
disease 1.000 definitive 0.980 2 0 1983 2020