Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3697
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Inter-alpha-trypsin inhibitor heavy chain 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ITIH1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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H1P, IATIH, IGHEP1, ITI-HC1, ITIH, SHAP |
Chromosome
Chromosome number
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3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p21.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain o |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
28892059 |
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) |
24389398, 24166486, 31374203 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental depression |
Unipolar Depression, Major Depressive Disorder |
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24389398, 22472876 |
ClinVar |
Parkinson Disease |
Parkinson Disease |
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GWAS |
Bipolar Disorder |
Bipolar Disorder |
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GWAS |
Hypertension |
Hypertension |
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GWAS |
Carpal Tunnel Syndrome |
Carpal Tunnel Syndrome |
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GWAS |
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