Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5122
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Proprotein convertase subtilisin/kexin type 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PCSK1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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BMIQ12, NEC1, PC1, PC1/3, PC3, SPC3 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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PC1, PC3 |
Chromosome
Chromosome number
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5 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q15 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein under |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Cholestasis |
Cholestasis |
rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 |
|
Hyperinsulinism |
Hyperinsulinism |
rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180 View all (23 more) |
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Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
|
Isolated somatotropin deficiency |
Isolated somatotropin deficiency |
rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391 |
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Obesity |
Obesity, Obesity due to prohormone convertase I deficiency |
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) |
18604207 |
Adrenal insufficiency |
Secondary Adrenal Insufficiency |
rs104894118, rs104894119 |
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Hypothyroidism |
Secondary hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Acanthosis nigricans |
Acanthosis Nigricans |
|
|
ClinVar |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acidosis |
Associate
|
34068683 |
ACTH Secreting Pituitary Adenoma |
Associate
|
17917309, 31319379 |
Adenocarcinoma |
Associate
|
34646089 |
Alopecia Neurologic Defects and Endocrinopathy Syndrome |
Associate
|
34068683, 36822744 |
Alzheimer Disease |
Associate
|
32967721, 34393677 |
Atrial Fibrillation |
Associate
|
31959406 |
Autism Spectrum Disorder |
Associate
|
33387879, 34573415 |
Autoimmune enteropathy |
Associate
|
32081864 |
Breast Neoplasms |
Associate
|
36705562 |
Carcinoid Tumor |
Associate
|
1547893 |
Cerebral Hemorrhage |
Associate
|
34780106 |
Cognition Disorders |
Inhibit
|
32967721 |
Colorectal Neoplasms |
Associate
|
21251323, 26446941, 34608882 |
Coronary Artery Disease |
Associate
|
24489861 |
Diabetes Insipidus |
Associate
|
24280991 |
Diabetes Insipidus Neurogenic |
Associate
|
23562752 |
Diabetes Mellitus |
Associate
|
23383060, 24932808, 36997916 |
Diabetes Mellitus Type 1 |
Inhibit
|
28877460 |
Diabetes Mellitus Type 1 |
Associate
|
31442418 |
Diabetes Mellitus Type 2 |
Associate
|
22389004, 23890480, 24489861, 24705588, 31250990, 36822744 |
Diabetes Mellitus Type 2 |
Inhibit
|
25892189 |
Diarrhea |
Associate
|
25272002 |
Diarrhea 4 Malabsorptive Congenital |
Associate
|
23562752, 24280991, 34068683 |
Disruptive Impulse Control and Conduct Disorders |
Associate
|
34097736 |
Dwarfism Pituitary |
Associate
|
23562752 |
Dyslipidemias |
Associate
|
31250990 |
Enteritis |
Associate
|
25272002 |
Eunuchism |
Associate
|
23562752 |
Glucose Intolerance |
Associate
|
21935364, 28271036 |
Glucose Metabolism Disorders |
Associate
|
20534142 |
Growth Disorders |
Associate
|
23562752 |
Hemorrhagic Fever with Renal Syndrome |
Associate
|
35059462 |
Hyperglycemia |
Inhibit
|
23985558 |
Hyperphagia |
Associate
|
23562752, 24280991 |
Immunologic Deficiency Syndromes |
Associate
|
34068683 |
Inflammation |
Inhibit
|
31442418 |
Inflammation |
Associate
|
34780106 |
Insulin Resistance |
Associate
|
19875984 |
Lung Neoplasms |
Associate
|
1547893, 23409034, 9166946 |
Malabsorption Syndromes |
Associate
|
23562752 |
Mental Disorders |
Associate
|
31600226 |
Metabolic Diseases |
Associate
|
23383060, 37761915 |
Metabolic Syndrome |
Associate
|
37761915 |
Neoplasm Metastasis |
Associate
|
16293189 |
Neoplasms |
Associate
|
16293189, 30673970, 34671197 |
Neoplasms |
Stimulate
|
23409034, 33299884 |
Nonsyndromic Holoprosencephaly |
Associate
|
1547893 |
Obesity |
Associate
|
19164386, 19528091, 19875984, 20498726, 20534142, 21311511, 21720444, 21873549, 22210313, 22737226, 23383060, 23562752, 23800642, 24135795, 24626232, 24932808, 26680480, 27421018, 28271036, 28377240, 29220676, 29726959, 30926952, 30991789, 33299884, 34068683, 34097736, 35026759, 35442499, 35741707, 35963866, 36822744, 36864747, 36997916, 37761915, 39743445 View all (21 more) |
Obesity Morbid |
Associate
|
28377240 |
Osteoarthritis |
Inhibit
|
39261869 |
Overweight |
Associate
|
20498726, 26680480 |
Penis agenesis |
Associate
|
24280991 |
Polycystic Kidney Autosomal Dominant |
Associate
|
29706351 |
Polycystic Ovary Syndrome |
Associate
|
22389004, 28271036, 31250990 |
Prader Willi Syndrome |
Associate
|
35442499 |
Primary Immunodeficiency Diseases |
Associate
|
32081864 |
Proprotein Convertase 1 3 Deficiency |
Associate
|
23562752 |
Proprotein Convertase 1 3 Deficiency |
Inhibit
|
24135795 |
Prostatic Neoplasms |
Associate
|
27835608 |
Prostatic Neoplasms |
Stimulate
|
34646089 |
Prostatitis |
Associate
|
26011939 |
Sarcoma Alveolar Soft Part |
Associate
|
19146682 |
Small Cell Lung Carcinoma |
Associate
|
1547893, 9166946 |
Urinary Bladder Neoplasms |
Inhibit
|
40531358 |
Weight Loss |
Associate
|
39743445 |
|