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: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.800 None 0.982 3 0 1985 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease 1.000 definitive 0.974 1 0 1994 2020
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
fibroblast growth factor receptor 2 0.380 0.808 1.00
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease 0.800 None 0.976 2 0 1994 2019
Entrez Id: 9049
Gene Symbol: AIP
AIP
aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease 0.400 None 1.000 4 0 2007 2019
Entrez Id: 83550
Gene Symbol: GPR101
GPR101
G protein-coupled receptor 101 0.631 0.538 0.70
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease 0.350 None 1.000 1 0 2014 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: 54790
Gene Symbol: TET2
TET2
tet methylcytosine dioxygenase 2 0.458 0.808 4.3E-54
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 0.500 None 0.909 2 0 2009 2019
Entrez Id: 811
Gene Symbol: CALR
CALR
calreticulin 0.413 0.923 0.89
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease 0.800 limited 0.929 2 0 2013 2020
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: 3039
Gene Symbol: HBA1
HBA1
hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.800 strong 0.985 0 0 1979 2019
Entrez Id: 3040
Gene Symbol: HBA2
HBA2
hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia
disease 0.800 strong 0.987 0 0 1971 2019
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: 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: 25978
Gene Symbol: CHMP2B
CHMP2B
charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.680 None 1.000 3 0 2006 2016
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
profilin 1 0.565 0.769 0.73
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.500 None 1.000 3 0 2012 2019
Entrez Id: 1610
Gene Symbol: DAO
DAO
D-amino acid oxidase 0.636 0.615 6.2E-22
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.670 moderate 1.000 2 0 2010 2018
Entrez Id: 23025
Gene Symbol: UNC13A
UNC13A
unc-13 homolog A 0.705 0.423 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.700 None 1.000 2 0 2009 2019
Entrez Id: 5444
Gene Symbol: PON1
PON1
paraoxonase 1 0.409 0.885 9.8E-11
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.700 None 0.929 2 0 2007 2019
Entrez Id: 5445
Gene Symbol: PON2
PON2
paraoxonase 2 0.566 0.808 5.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.400 None 1.000 2 0 2010 2013
Entrez Id: 5446
Gene Symbol: PON3
PON3
paraoxonase 3 0.663 0.692 2.1E-07
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.400 None 1.000 2 0 2010 2013
Entrez Id: 10133
Gene Symbol: OPTN
OPTN
optineurin 0.548 0.808 5.9E-18
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.700 None 0.954 1 0 2010 2020
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.490 None 1.000 1 0 2007 2018
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
dynactin subunit 1 0.597 0.500 8.4E-02
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.500 None 0.909 1 0 2005 2019
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.800 limited 0.985 1 0 2009 2020
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
EPH receptor A4 0.566 0.846 1.00
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.500 None 0.909 1 0 2012 2019