Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8301
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Phosphatidylinositol binding clathrin assembly protein |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PICALM |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CALM, CLTH, LAP |
Chromosome
Chromosome number
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11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q14.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Alzheimer disease |
Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 View all (65 more) |
19734902, 21460841, 25778476, 22832961, 30617256, 29777097 |
Leukemia |
Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 |
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Lymphoblastic leukemia |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Tourette Syndrome |
Tourette Syndrome |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
Insomnia |
Insomnia |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma of Lung |
Associate
|
24498085 |
Alzheimer Disease |
Associate
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19734902, 20209083, 20534741, 20554627, 20697030, 20739100, 20838239, 21059989, 21220176, 21379329, 21912625, 22015308, 22445811, 22482808, 22508715, 22539578, 22943764, 22952074, 23226438, 23360175, 23419238, 23601808, 23643458, 23870418, 23954108, 23954523, 24618820, 24670887, 25169757, 25189118, 25723573, 26625115, 27017968, 27117083, 27430330, 27482534, 28005991, 28073596, 28084078, 28116548, 28199971, 30286791, 30297968, 30472946, 30830563, 31262699, 32709662, 32991610, 33027662, 33170153, 33386803, 34092785, 34650147, 34752346, 35640139, 35715361, 35811524, 37493530, 38044212, 38241287, 40095677, 40565532 View all (47 more) |
Amyotrophic Lateral Sclerosis |
Associate
|
33953791 |
Arrhythmias Cardiac |
Associate
|
30348784, 37528649 |
Atrophy |
Associate
|
24670887, 27117083 |
Cardiomyopathies |
Associate
|
37528649 |
Cerebral Infarction |
Associate
|
40442227 |
Cognition Disorders |
Associate
|
22952074, 26889634, 27117083, 30472946 |
Cognitive Dysfunction |
Associate
|
25189118 |
Dementia |
Associate
|
21297263, 30830563, 36191742, 36982820 |
Dementia Vascular |
Associate
|
30830563 |
Depressive Disorder |
Associate
|
33386803 |
Disease |
Associate
|
24438528 |
Down Syndrome |
Associate
|
23601808 |
Epilepsy Frontal Lobe |
Associate
|
27117083 |
Heart Arrest |
Associate
|
27100291 |
Heart Defects Congenital |
Associate
|
37528649 |
Hematologic Neoplasms |
Associate
|
39499083 |
Leukemia |
Associate
|
12461747, 23673860 |
Leukemia Biphenotypic Acute |
Associate
|
12461747, 39499083 |
Leukemia Myeloid Acute |
Associate
|
12461747, 24498085, 39499083, 9616163 |
Leukoencephalopathies |
Associate
|
22745009, 32062564 |
Long QT Syndrome |
Associate
|
27765793 |
Lymphoma T Cell |
Associate
|
30914738 |
Memory Disorders |
Associate
|
29883038 |
Muscular Dystrophy Congenital Megaconial Type |
Associate
|
37528649 |
Neoplasm Metastasis |
Inhibit
|
31648990 |
Neoplasms |
Associate
|
24498085, 30914738 |
Nerve Degeneration |
Associate
|
27017968 |
Neurodegenerative Diseases |
Associate
|
30472946, 32062564, 33170153, 33386803 |
Neurologic Manifestations |
Associate
|
30472946 |
Parkinson Disease |
Associate
|
21912625, 26889634 |
Parkinson Disease |
Inhibit
|
33386803 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
39499083 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
15774621 |
Sarcoma |
Associate
|
36232302 |
Sarcoma Myeloid |
Associate
|
36916780 |
Stomach Neoplasms |
Associate
|
33397371 |
Stroke |
Associate
|
30830563 |
Tourette Syndrome |
Associate
|
28555406 |
Urinary Bladder Neoplasms |
Inhibit
|
31648990 |
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