| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cavernous hemangioma |
Likely pathogenic; Pathogenic |
rs1553759139 |
RCV000626904 |
| Cerebral arteriovenous malformation |
Likely pathogenic; Pathogenic |
rs1553759139 |
RCV000626904 |
| Cerebral cavernous malformation |
Pathogenic; Likely pathogenic |
rs1057517786, rs1559941951, rs1719762092 |
RCV001727711 RCV001727795 RCV004783908 |
| Cerebral cavernous malformation 1 |
Pathogenic |
rs2108438340 |
RCV001823320 |
| Cerebral cavernous malformation 3 |
Pathogenic; Likely pathogenic |
rs1559952317, rs2108363227, rs1553758385, rs2108409355, rs747383685, rs2108373966, rs2108375192, rs2108409560, rs2108409609, rs2108403745, rs2108484048, rs2108409594, rs2108438340, rs976585767, rs1577329665, rs1577317859, rs2475721715, rs2475659360, rs1314521430, rs2475731521, rs2475935944, rs1559945126, rs2475935599, rs2475629515, rs2475664566, rs2475720222, rs2475731012, rs2475731172, rs1057517786, rs1553759042, rs1553759139, rs1553761266, rs1553760900, rs1303470125, rs1553759059, rs1559941951, rs1559941903, rs1404676956, rs1357917630, rs1559952467, rs1577329627, rs1720895403, rs1719762092, rs1719352298 View all (29 more) |
RCV001375932 RCV001388666 RCV001389091 RCV001390464 RCV003600420 RCV001894339 RCV001898350 RCV001942623 RCV002002420 RCV001917956 RCV001941531 RCV001946894 RCV001948478 RCV001883598 RCV001956517 RCV000001942 RCV000001946 RCV002875917 RCV003015946 RCV003024334 RCV003035801 RCV003120126 RCV003148132 RCV005871133 RCV003498014 RCV003499784 RCV003497724 RCV003498522 RCV003601821 RCV003602072 RCV003602455 RCV000813410 RCV000549105 RCV000536749 RCV000560557 RCV000560286 RCV000544337 RCV000531663 RCV000644583 RCV000681477 RCV000688068 RCV000696694 RCV001236134 RCV003141726 RCV003227843 RCV000804198 RCV001055829 RCV001197013 RCV001238455 |
| Hemiparesis |
Likely pathogenic; Pathogenic |
rs1553759139 |
RCV000626904 |
| Hereditary cavernous hemangioma of brain |
Likely pathogenic; Pathogenic |
rs1553759139 |
RCV003380616 |
| PDCD10-related disorder |
Pathogenic; Likely pathogenic |
rs2108409609, rs1719758355, rs1553759139, rs1553760900, rs1357917630 |
RCV004741133 RCV003397257 RCV005429025 RCV003419967 RCV004740429 |
| Seizure |
Likely pathogenic; Pathogenic |
rs1553759139 |
RCV000626904 |
|
| Disease Name |
Relationship Type |
References |
| Brain Diseases |
Associate |
17212813 |
| Brain Stem Neoplasms |
Associate |
36629374 |
| Breast Neoplasms |
Associate |
30653426, 35431232 |
| Carcinoma Pancreatic Ductal |
Associate |
39212293 |
| Central Nervous System Vascular Malformations |
Associate |
26246098 |
| Cerebral Cavernous Malformations 3 |
Associate |
19246713, 20854465, 23665169, 26385474, 32186778 |
| Cerebral Hemorrhage |
Associate |
20854465 |
| Cerebrovascular Trauma |
Associate |
23388056 |
| Cholangiocarcinoma |
Associate |
37781039 |
| Corneal Endothelial Cell Loss |
Associate |
20181950 |
| Edema |
Inhibit |
26490252 |
| Familial cerebral cavernous malformation |
Associate |
23388056, 25525273, 36629374, 38420834 |
| Genetic Diseases Inborn |
Associate |
35858850 |
| Glioblastoma |
Inhibit |
26490252 |
| Glioblastoma |
Associate |
39273014 |
| Hemangioma Cavernous Central Nervous System |
Associate |
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 |
33891857 |
| Hemorrhagic Stroke |
Associate |
23541896, 24684205, 25825518 |
| Hypoxia Brain |
Associate |
26490252 |
| Ischemia |
Associate |
27534371 |
| Lymphoma T Cell Cutaneous |
Associate |
20854465 |
| Malformations of Cortical Development Group I |
Associate |
27534371 |
| Meningioma |
Associate |
26246098 |
| Meningioma familial |
Associate |
26246098 |
| Muscular Dystrophy Duchenne |
Associate |
35858850 |
| Neoplasms |
Associate |
17212813, 20854465, 25550858, 26490252, 30653426, 39212293 |
| Neoplasms |
Inhibit |
19088123, 39273014 |
| Neurologic Manifestations |
Associate |
23541896, 25825518 |
| Pancreatic Neoplasms |
Associate |
39212293 |
| Prostatic Hyperplasia |
Associate |
25550858 |
| Prostatic Neoplasms |
Associate |
25550858 |
| Prostatitis |
Associate |
25550858 |
| Ring Chromosome 20 Syndrome |
Associate |
27534371 |
| Seizures |
Associate |
23541896, 25825518, 26246098 |
| Sezary Syndrome |
Associate |
20854465 |
| Spondylitis Ankylosing |
Associate |
32450789 |
| Vascular Diseases |
Associate |
23665169, 25825518, 28181149 |
|