Source: CTD_human

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: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0751893
Disease: Posterior Fossa Hemorrhage
Posterior Fossa Hemorrhage
phenotype 0.300 None 1.000 14 0 1988 2010
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure
disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure
disease 0.300 None 1.000 13 0 2000 2018
Entrez Id: 4879
Gene Symbol: NPPB
NPPB
natriuretic peptide B 0.513 0.808 9.9E-06
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation
phenotype 0.300 None 1.000 13 0 2000 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
disease 0.300 None 1.000 13 0 1995 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset
disease 0.300 None 1.000 13 0 1995 2017
Entrez Id: 10743
Gene Symbol: RAI1
RAI1
retinoic acid induced 1 0.545 0.731 1.00
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy
phenotype 0.300 None 1.000 12 0 2004 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease 0.300 None 1.000 12 0 1994 2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease 0.300 None 1.000 12 0 1994 2017
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0376280
Disease: Anxiety States, Neurotic
Anxiety States, Neurotic
disease 0.300 None 1.000 11 0 1994 2012
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding)
disease 0.300 None 1.000 11 0 1994 2012
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I
disease 0.300 None 1.000 11 0 2001 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
7-dehydrocholesterol reductase 0.500 0.846 3.9E-13
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II
disease 0.300 None 1.000 11 0 2001 2018
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset
disease 0.300 None 1.000 11 0 2004 2017
Entrez Id: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
Akinetic-Rigid Variant of Huntington Disease
disease 0.300 None 1.000 11 0 2004 2017
Entrez Id: 324
Gene Symbol: APC
APC
APC regulator of WNT signaling pathway 0.373 0.962 1.00
CUI: C2713443
Disease: Familial Intestinal Polyposis
Familial Intestinal Polyposis
disease 0.300 None 1.000 11 0 1994 2017
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0015697
Disease: Arterial Fatty Streak
Arterial Fatty Streak
phenotype 0.300 None 1.000 11 0 2007 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0264956
Disease: Atheroma
Atheroma
phenotype 0.300 None 1.000 11 0 2007 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C2936350
Disease: Plaque, Atherosclerotic
Plaque, Atherosclerotic
phenotype 0.300 None 1.000 11 0 2007 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma
disease 0.300 None 1.000 11 0 2007 2018
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype 0.300 None 1.000 11 0 2002 2013
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013221
Disease: Drug toxicity
Drug toxicity
group 0.300 None 1.000 11 0 2005 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug
group 0.300 None 1.000 11 0 2005 2016
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0458247
Disease: Allodynia
Allodynia
phenotype 0.300 None 1.000 11 0 1995 2016