Source: UNIPROT

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: 3561
Gene Symbol: IL2RG
IL2RG
interleukin 2 receptor subunit gamma 0.535 0.769 0.99
X-Linked Combined Immunodeficiency Diseases
group 0.800 strong 0.965 13 7 1989 2019
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 4 1 1995 2020
Entrez Id: 112812
Gene Symbol: FDX2
FDX2
ferredoxin 2 0.780 0.346 1.7E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.710 strong 1.000 2 2 2014 2018
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
SET binding protein 1 0.503 0.808 1.00
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.570 None 1.000 2 2 2013 2018
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 2 0 2003 2020
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
U2 small nuclear RNA auxiliary factor 1 0.604 0.577 0.99
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group 0.800 None 0.963 2 2 2011 2020
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
collagen type IX alpha 2 chain 0.572 0.769 1.0E-08
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder
group 0.550 None 1.000 1 1 1999 2016
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 1 2002 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
group 0.800 None 0.957 0 2 1994 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group 0.800 None 1.000 0 0 1997 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0027533
Disease: Neck Neoplasms
Neck Neoplasms
group 0.340 None 1.000 0 1 2001 2014
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group 0.310 None 1.000 0 0 1998 1998
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CCCTC-binding factor 0.504 0.769 1.00
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.340 None 1.000 0 1 2003 2008
Entrez Id: 123879
Gene Symbol: DCUN1D3
DCUN1D3
defective in cullin neddylation 1 domain containing 3 0.87
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.300 None 0 0
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group 0.900 None 0.982 0 2 1990 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms
group 0.300 None 0 1
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
menin 1 0.444 0.808 1.00
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms
group 0.400 None 0.971 0 2 1989 2017
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
MRE11 homolog, double strand break repair nuclease 0.527 0.808 1.3E-12
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group 0.400 None 0.964 0 3 2001 2019
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
transforming growth factor beta receptor 2 0.413 0.846 0.13
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group 0.340 None 1.000 0 1 2001 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group 0.700 None 0.947 0 5 1991 2019
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
hydroxysteroid 17-beta dehydrogenase 10 0.656 0.538 0.94
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria
phenotype 0.750 definitive 1.000 12 8 1999 2019
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
myosin heavy chain 9 0.505 0.808 1.00
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
phenotype 1.000 definitive 1.000 11 13 1998 2020
Entrez Id: 175
Gene Symbol: AGA
AGA
aspartylglucosaminidase 0.570 0.808 4.3E-06
CUI: C0268225
Disease: Aspartylglucosaminuria
Aspartylglucosaminuria
phenotype 1.000 None 0.960 6 13 1990 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
phenotype 0.600 strong 1.000 5 1 2001 2007
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.564 0.692 5.5E-03
Creatine phosphokinase serum increased
phenotype 0.700 None 1.000 5 3 2000 2005