| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Finnish congenital nephrotic syndrome |
Pathogenic |
rs2495460804 |
RCV004018324 |
| Focal segmental glomerulosclerosis |
Likely pathogenic; Pathogenic |
rs1589475328 |
RCV001849443 |
| Nephrotic syndrome |
Likely pathogenic; Pathogenic |
rs2136320656, rs2137512478, rs2132855762, rs2133127123, rs747229979, rs2133612592, rs2133673643, rs1589475328, rs2051495579 |
RCV001849870 RCV001849871 RCV001849873 RCV001849874 RCV001849875 RCV001849876 RCV001849877 RCV001849442 RCV001328253 |
| Nephrotic syndrome, type 3 |
Pathogenic; Likely pathogenic |
rs750815297, rs2133104138, rs2133127091, rs548655036, rs918508213, rs2051691492, rs2134504108, rs941409069, rs2133537931, rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs1439063013, rs2493533817, rs2496256205, rs2494255828, rs2497049567, rs2496494951, rs267606953, rs267606954, rs267606955, rs2496086396, rs1589475328, rs1589413498, rs895782232, rs1589433172, rs1589509476 View all (16 more) |
RCV005040257 RCV001535848 RCV001782649 RCV001823445 RCV002244205 RCV002244206 RCV002250248 RCV002250249 RCV002250848 RCV000002435 RCV000002436 RCV000002437 RCV000002438 RCV000002439 RCV000002440 RCV000002441 RCV005042925 RCV003324643 RCV003332929 RCV003388697 RCV004577605 RCV003484557 RCV000002442 RCV000002443 RCV000002444 RCV004577302 RCV000785963 RCV000790391 RCV000985026 RCV000988437 RCV000991397 |
| PLCE1-related disorder |
Likely pathogenic |
rs2495932389, rs747229979 |
RCV003412485 RCV003410871 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
30931333 |
| Carcinogenesis |
Associate |
23077637, 23390063, 24254309, 24935391, 25041015, 25434319 |
| Carcinoma Hepatocellular |
Associate |
28418898, 32323856, 34967552 |
| Carcinoma Non Small Cell Lung |
Associate |
31364122, 35220468 |
| Cardiotoxicity |
Inhibit |
28851949 |
| Colitis Ulcerative |
Associate |
37843347 |
| Colorectal Neoplasms |
Inhibit |
21909432 |
| Colorectal Neoplasms |
Associate |
24146276, 24496148, 34959120, 35349390, 37843347 |
| Death |
Associate |
28418898 |
| Diabetic Nephropathies |
Inhibit |
37916327 |
| Esophageal Neoplasms |
Associate |
21427165, 21689432, 22412849, 23390063, 24867265, 24935391, 25422186, 25854357, 26176862, 30450849, 30931333, 32869542 |
| Esophageal Neoplasms |
Stimulate |
25041015 |
| Esophageal Squamous Cell Carcinoma |
Associate |
20729852, 21689432, 22805490, 22865593, 23390063, 24867265, 25008389, 25041015, 25139097, 26657507, 33162810, 33650665 |
| Esophageal Squamous Cell Carcinoma |
Stimulate |
28849204 |
| Esophagitis |
Associate |
23390063 |
| Essential Hypertension |
Associate |
32555714 |
| Gallbladder Neoplasms |
Associate |
24863943 |
| Gastritis Atrophic |
Associate |
23077637 |
| Gastrointestinal Neoplasms |
Associate |
22805490 |
| Glaucoma |
Associate |
31816047 |
| Glomerulosclerosis Focal Segmental |
Associate |
18975016, 20591883 |
| Helicobacter Infections |
Associate |
24069371 |
| Hypertension |
Associate |
28851949, 37175507 |
| Inflammation |
Associate |
23077637, 23390063, 24069371, 28849204 |
| Kidney Failure Chronic |
Associate |
18975016 |
| Lung Neoplasms |
Associate |
26176862 |
| Macular Degeneration |
Associate |
31816047 |
| Mesangial sclerosis diffuse |
Associate |
18975016, 19037252, 20591883, 21365190 |
| Mitochondrial Diseases |
Associate |
21365190 |
| Mitral Valve Insufficiency |
Stimulate |
27907007 |
| Neoplasm Metastasis |
Associate |
26657507, 28849204 |
| Neoplasms |
Associate |
20729852, 24496148, 24935391, 25434319, 26176862, 26320491, 26657507, 26683024, 27127881, 28418898, 30931333, 32777176, 34967552, 35349390, 35765945 |
| Neoplasms |
Inhibit |
22412849 |
| Neoplasms |
Stimulate |
25041015 |
| Neoplasms Squamous Cell |
Associate |
22805490 |
| Nephronophthisis 3 |
Associate |
31922211 |
| Nephrosis congenital |
Associate |
31013750 |
| Nephrotic Syndrome |
Associate |
18975016, 20591883, 23349334, 24742477, 29058690, 29127259, 35920919, 37670083 |
| Oropharyngeal Neoplasms |
Associate |
21689432 |
| Osteosarcoma |
Associate |
35765945 |
| Pulmonary Arterial Hypertension |
Associate |
37176017 |
| Retinal Detachment |
Associate |
31816047 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
21689432, 33162810 |
| Stomach Neoplasms |
Associate |
20729852, 21427165, 21689432, 22412849, 22805490, 23077637, 24069371, 24254309, 24867265, 25434319, 25658482, 26176862, 27127881, 29983348, 30931333, 32777176 View all (1 more) |
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