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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease 0.790 strong 1.000 1 0 1995 2018
Entrez Id: 9095
Gene Symbol: TBX19
TBX19
T-box transcription factor 19 0.695 0.462 7.1E-06
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated
disease 0.760 strong 1.000 1 1 2001 2019
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
GNAS complex locus 0.420 0.885 0.68
Acth-Independent Macronodular Adrenal Hyperplasia
disease 0.700 strong 1.000 1 2 1997 2003
Entrez Id: 79798
Gene Symbol: ARMC5
ARMC5
armadillo repeat containing 5 0.670 0.500 0.11
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
disease 0.680 strong 1.000 10 11 2013 2018
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
actin alpha 1, skeletal muscle 0.540 0.769 1.1E-06
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy
disease 0.930 None 1.000 13 21 1988 2018
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
scavenger receptor class B member 2 0.606 0.615 8.9E-05
Action Myoclonus-Renal Failure Syndrome
disease 0.800 None 1.000 4 1 2008 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta 0.319 0.885 1.00
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
disease 0.800 strong 1.000 1 1 2006 2020
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
erythropoietin receptor 0.526 0.692 1.0E-02
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease 0.370 None 1.000 0 1 1992 2009
Entrez Id: 3145
Gene Symbol: HMBS
HMBS
hydroxymethylbilane synthase 0.559 0.731 0.95
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria
disease 1.000 strong 0.983 42 23 1974 2020
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C3553748
Disease: ADAMS-OLIVER SYNDROME 3
ADAMS-OLIVER SYNDROME 3
disease 0.600 None 1.000 1 2 2012 2018
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C3809092
Disease: ADAMS-OLIVER SYNDROME 4
ADAMS-OLIVER SYNDROME 4
disease 0.600 None 1.000 1 0 2013 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
notch receptor 1 0.369 0.885 1.00
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
disease 0.600 strong 1.000 1 3 2014 2018
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
delta like canonical Notch ligand 4 0.494 0.769 1.00
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6
disease 0.600 None 1.000 1 7 2015 2018
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
Adenine phosphoribosyltransferase deficiency
disease 1.000 None 1.000 8 4 1986 2016
Entrez Id: 5519
Gene Symbol: PPP2R1B
PPP2R1B
protein phosphatase 2 scaffold subunit Abeta 0.678 0.423 3.0E-15
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease 0.300 None 0 1
Entrez Id: 8438
Gene Symbol: RAD54L
RAD54L
RAD54 like 0.633 0.423 2.4E-15
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
disease 0.600 None 0 1
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 10645
Gene Symbol: CAMKK2
CAMKK2
calcium/calmodulin dependent protein kinase kinase 2 0.617 0.654 9.2E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 1
Entrez Id: 156
Gene Symbol: GRK2
GRK2
G protein-coupled receptor kinase 2 0.532 0.654 1.00
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 1613
Gene Symbol: DAPK3
DAPK3
death associated protein kinase 3 0.612 0.654 6.6E-03
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 203447
Gene Symbol: NRK
NRK
Nik related kinase 0.666 0.538 0.99
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 1
Entrez Id: 2045
Gene Symbol: EPHA7
EPHA7
EPH receptor A7 0.619 0.500 1.00
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
erb-b2 receptor tyrosine kinase 4 0.455 0.846 1.00
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.500 None 0 0
Entrez Id: 29110
Gene Symbol: TBK1
TBK1
TANK binding kinase 1 0.513 0.846 7.5E-02
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease 0.300 None 0 1