Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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11235
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Programmed cell death 10 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PDCD10 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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CCM3, TFAR15 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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CCM3 |
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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3q26.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is ph |
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs886041888 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1057517786 |
G>A |
Pathogenic |
Stop gained, 5 prime UTR variant, coding sequence variant |
rs1303470125 |
G>A,C |
Pathogenic |
Missense variant, stop gained, coding sequence variant |
rs1357917630 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1404676956 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs1553758385 |
T>A,G |
Uncertain-significance, likely-pathogenic |
Splice acceptor variant |
rs1553759042 |
ACTT>- |
Pathogenic |
Splice donor variant, intron variant, coding sequence variant |
rs1553759059 |
G>C |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
rs1553759139 |
C>T |
Pathogenic, likely-pathogenic |
Intron variant |
rs1553760888 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553760900 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1553761217 |
C>T |
Pathogenic |
Splice donor variant |
rs1553761266 |
CTTT>- |
Pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
rs1553762839 |
C>A,T |
Likely-pathogenic |
Splice donor variant |
rs1559941951 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1559944592 |
A>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
rs1559944602 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1559945126 |
T>A |
Likely-pathogenic |
Splice acceptor variant |
rs1559945136 |
G>C |
Pathogenic |
Intron variant |
rs1559952217 |
A>C |
Likely-pathogenic |
Splice donor variant |
rs1559952220 |
C>T |
Likely-pathogenic |
Splice donor variant |
rs1559952317 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1559952461 |
CT>- |
Likely-pathogenic |
Splice acceptor variant, coding sequence variant |
rs1559952467 |
C>G |
Likely-pathogenic |
Splice acceptor variant |
rs1559953791 |
C>- |
Likely-pathogenic |
Splice donor variant, coding sequence variant |
rs1559960758 |
A>- |
Likely-pathogenic |
Frameshift variant, 5 prime UTR variant, coding sequence variant |
rs1577317859 |
C>T |
Pathogenic |
Splice acceptor variant |
rs1577329627 |
T>A |
Pathogenic |
Stop gained, coding sequence variant |
rs1577329665 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Cerebral arteriovenous malformation |
Arteriovenous Malformations, Cerebral |
rs121913529, rs17851045, rs1553178399, rs781410462, rs577890523, rs1554047435, rs778089198, rs1554810174, rs1555238867, rs1555196298, rs1555556099, rs1555630396, rs1555985260, rs1585998247 |
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Cerebral cavernous malformation |
Cerebral Cavernous Malformations 3, Familial cerebral cavernous malformation |
rs1577329665, rs2108438229, rs1577317859, rs1562848466, rs137852841, rs137852842, rs1562906981, rs137852843, rs2131309013, rs2131308132, rs2131309179, rs267607203, rs1563302930, rs137853139, rs137853140, rs267607204, rs797044623, rs886039572, rs886039571, rs886039402, rs886039401, rs886039659, rs886039400, rs886041157, rs886041209, rs886043300, rs1057517786, rs1057517753, rs1057517754, rs1057518665, rs965713946, rs1064793348, rs1554528541, rs1554518386, rs1554502927, rs1554503009, rs755800734, rs1554518541, rs1554529341, rs1554503702, rs757560062, rs1553758385, rs1553759042, rs1553759139, rs1553761266, rs1553760900, rs1303470125, rs1554365511, rs1554504484, rs1554513061, rs1554365507, rs1554489785, rs1554518783, rs1554527779, rs1554539120, rs1180476377, rs1331502949, rs1554527817, rs1554527925, rs1554377652, rs1554504519, rs1554512658, rs1554513070, rs1554514380, rs1554513911, rs1554527032, rs1554490317, rs771656368, rs1554527169, rs1554518750, rs1553759059, rs1326827713, rs1554527922, rs1559941951, rs1562912426, rs1563301954, rs1559952317, rs1559941903, rs1563263905, rs1562906798, rs1563266147, rs1468613071, rs1563275562, rs1563244629, rs1562921605, rs1404676956, rs1357917630, rs1559952467, rs1562848479, rs1562882049, rs1562882045, rs1562907365, rs1562912528, rs1562913873, rs1562917629, rs1331484727, rs1563211627, rs1563212150, rs1041438637, rs1563239833, rs1563240592, rs1563243016, rs1563244596, rs1563244618, rs1563244807, rs549591728, rs1563263366, rs1563264113, rs1563265959, rs1563266163, rs1563266658, rs1563267100, rs779465895, rs780114710, rs1563301305, rs764960797, rs1563302941, rs1563302951, rs1563305064, rs1563305648, rs866982998, rs1563313372, rs1562881854, rs1577329627, rs1583970495, rs1584800138, rs1584873058, rs1584881309, rs1584975743, rs1584976350, rs1584981589, rs1583984070, rs1584807148, rs1720895403, rs765548101, rs1437280900, rs756276859, rs767248510, rs1790085048, rs1790098079, rs997111087, rs1795435288, rs1798067945, rs1798228728, rs1798241938, rs777198867, rs1790081665, rs1795437460, rs1795541254 View all (134 more) |
25354366, 23485406, 23801932, 15543491, 18035376, 26896283, 23595507 |
Venous malformation |
Congenital abnormality of vein, Venous malformation |
rs770780171 |
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Meningioma |
Meningioma |
rs587776563, rs121434259, rs387906857, rs397509405, rs797045990, rs876659443, rs878854603, rs1057518166, rs1060501395, rs1554897280, rs1554898242, rs1555605347, rs587782187, rs1555605750, rs878853937, rs1589596143, rs2037146593, rs2037146907 View all (3 more) |
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Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Cerebral Cavernous Malformation |
cerebral cavernous malformation 3, famililal cerebral cavernous malformations |
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GenCC |
Prostate cancer |
Prostate cancer |
Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. |
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GWAS, CBGDA |
Schizophrenia |
Schizophrenia |
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GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Brain Diseases |
Associate
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17212813 |
Brain Stem Neoplasms |
Associate
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36629374 |
Breast Neoplasms |
Associate
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30653426, 35431232 |
Carcinoma Pancreatic Ductal |
Associate
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39212293 |
Central Nervous System Vascular Malformations |
Associate
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26246098 |
Cerebral Cavernous Malformations 3 |
Associate
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19246713, 20854465, 23665169, 26385474, 32186778 |
Cerebral Hemorrhage |
Associate
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20854465 |
Cerebrovascular Trauma |
Associate
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23388056 |
Cholangiocarcinoma |
Associate
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37781039 |
Corneal Endothelial Cell Loss |
Associate
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20181950 |
Edema |
Inhibit
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26490252 |
Familial cerebral cavernous malformation |
Associate
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23388056, 25525273, 36629374, 38420834 |
Genetic Diseases Inborn |
Associate
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35858850 |
Glioblastoma |
Inhibit
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26490252 |
Glioblastoma |
Associate
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39273014 |
Hemangioma Cavernous Central Nervous System |
Associate
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11459890, 14740320, 15543491, 19088123, 19182478, 19246713, 19760287, 20181950, 20489202, 20854465, 20862502, 21029238, 23388056, 23473272, 23541896, 23665169, 24058906, 24466005, 24684205, 24698976, 25354366, 25825518, 25966944, 26246098, 27737651, 28181149, 31446422, 31455779, 32186778, 32286434, 32702807, 32877751, 33891857, 34588521, 35858850, 36094437, 36629374, 36835400, 37030452, 38420834, 40362576, 40401429, 40478324 View all (28 more) |
Hemorrhage |
Associate
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33891857 |
Hemorrhagic Stroke |
Associate
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23541896, 24684205, 25825518 |
Hypoxia Brain |
Associate
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26490252 |
Ischemia |
Associate
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27534371 |
Lymphoma T Cell Cutaneous |
Associate
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20854465 |
Malformations of Cortical Development Group I |
Associate
|
27534371 |
Meningioma |
Associate
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26246098 |
Meningioma familial |
Associate
|
26246098 |
Muscular Dystrophy Duchenne |
Associate
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35858850 |
Neoplasms |
Associate
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17212813, 20854465, 25550858, 26490252, 30653426, 39212293 |
Neoplasms |
Inhibit
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19088123, 39273014 |
Neurologic Manifestations |
Associate
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23541896, 25825518 |
Pancreatic Neoplasms |
Associate
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39212293 |
Prostatic Hyperplasia |
Associate
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25550858 |
Prostatic Neoplasms |
Associate
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25550858 |
Prostatitis |
Associate
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25550858 |
Ring Chromosome 20 Syndrome |
Associate
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27534371 |
Seizures |
Associate
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23541896, 25825518, 26246098 |
Sezary Syndrome |
Associate
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20854465 |
Spondylitis Ankylosing |
Associate
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32450789 |
Vascular Diseases |
Associate
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23665169, 25825518, 28181149 |
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