Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5105
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Phosphoenolpyruvate carboxykinase 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PCK1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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PCKDC, PEPCK-C, PEPCK1, PEPCKC |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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PCKDC |
Chromosome
Chromosome number
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20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20q13.31 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expressio |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 View all (32 more) |
|
Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 View all (10 more) |
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Obesity |
Obesity |
rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829 View all (27 more) |
20882379 |
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 View all (37 more) |
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Phosphoenolpyruvate carboxykinase deficiency |
Phosphoenolpyruvate carboxykinase deficiency |
rs202197769 |
24863970, 26971250, 28216384 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
18460190 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Celiac disease |
Celiac Disease |
|
30097691 |
ClinVar |
Congestive heart failure |
Congestive heart failure |
|
26670611 |
ClinVar |
Heart failure |
Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided |
|
26670611 |
ClinVar |
Myocardial infarction |
Myocardial Failure |
|
26670611 |
ClinVar |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
35109912 |
Alzheimer Disease |
Associate
|
18830724, 21152065 |
Androgen Insensitivity Syndrome |
Associate
|
24863970 |
Atherosclerosis |
Associate
|
37904164 |
Brain Diseases |
Associate
|
37924129 |
Breast Neoplasms |
Associate
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32028860, 39684297 |
Carcinogenesis |
Associate
|
39684297 |
Carcinoma Hepatocellular |
Associate
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31406102, 33865459, 34238253 |
Carcinoma Hepatocellular |
Inhibit
|
37166978 |
Carcinoma Renal Cell |
Associate
|
27748938, 34528699 |
Cardiovascular Diseases |
Associate
|
37904164 |
Colitis Ulcerative |
Associate
|
33686088 |
Colonic Neoplasms |
Associate
|
35109912 |
Colorectal Neoplasms |
Associate
|
36193307, 37475862 |
Diabetes Gestational |
Associate
|
30805369 |
Diabetes Mellitus |
Associate
|
26280835, 37904164 |
Diabetes Mellitus Type 2 |
Associate
|
19725958, 22932905, 30805369 |
Genetic Diseases Inborn |
Associate
|
37924129 |
Hypoglycemia |
Associate
|
24863970, 37924129 |
Infarction |
Associate
|
20574532 |
Inflammation |
Associate
|
39463224 |
Inflammatory Bowel Diseases |
Associate
|
39273699 |
Lewy Body Disease |
Associate
|
20574532 |
Malaria |
Associate
|
36193307 |
Melanoma |
Associate
|
36700470 |
Mental Disorders |
Associate
|
26280835 |
Microphthalmia Syndromic 10 |
Associate
|
21152065 |
Multiple Sclerosis |
Associate
|
21152065 |
Neoplasm Metastasis |
Associate
|
32777161 |
Neoplasms |
Associate
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29259235, 36700470, 39684297 |
Obesity |
Associate
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20134411, 26280835 |
Osteoarthritis |
Inhibit
|
39463224 |
Phosphoenolpyruvate carboxykinase deficiency |
Associate
|
37924129 |
Smith Magenis Syndrome |
Associate
|
24863970 |
Triple Negative Breast Neoplasms |
Associate
|
39529035 |
|