| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acrodysostosis 1 with or without hormone resistance |
Pathogenic; Likely pathogenic |
rs886041228, rs281864801, rs387906692, rs387906694, rs387906695, rs1555815121, rs1600486197 |
RCV003469209 RCV002496345 RCV000022791 RCV000022793 RCV000022794 RCV000497832 RCV000791348 |
| Adrenocortical tumor, somatic |
Pathogenic |
rs587776774 |
RCV000013509 |
| Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis |
Likely pathogenic |
rs1555815121 |
RCV005646775 |
| Arrhythmogenic right ventricular dysplasia 10 |
Likely pathogenic |
rs2143321666 |
RCV001537873 |
| Carney complex |
Pathogenic |
rs727503379, rs141913727, rs387906692, rs281864784 |
RCV000151681 RCV000509168 RCV001824573 RCV001269128 |
| Carney complex, type 1 |
Likely pathogenic; Pathogenic |
rs2143392408, rs2143275431, rs2143275771, rs2143322263, rs2143383985, rs2143350378, rs2143383396, rs2143289454, rs2143151469, rs2143307557, rs1555813578, rs2143322920, rs2143293708, rs2143272157, rs727503379, rs2509407190, rs2509443639, rs2509438133, rs2509407715, rs2509437298, rs2509431113, rs2509437319, rs886041228, rs886041351, rs281864790, rs281864785, rs281864799, rs2509431075, rs281864779, rs281864798, rs281864801, rs2509430749, rs2509437411, rs2509413013, rs2509446428, rs2509443692, rs2509407622, rs141913727, rs387906692, rs1085307672, rs1555815121, rs1555814100, rs281864782, rs281864783, rs281864797, rs281864800, rs281864792, rs281864784, rs281864780, rs1555813217, rs1555814477, rs1555811753, rs1568702458, rs1568698487, rs1568698504, rs1568701362, rs2085693506, rs2085739247, rs2085876656, rs2085656304, rs2085657588 View all (46 more) |
RCV001370028 RCV001380901 RCV001387956 RCV001389562 RCV005094860 RCV001874471 RCV001994583 RCV001923659 RCV001900787 RCV002007161 RCV001924995 RCV001972455 RCV001880832 RCV002049514 RCV001382880 RCV003064483 RCV002611112 RCV002856759 RCV002870847 RCV002862618 RCV002885197 RCV003048792 RCV000558438 RCV001382881 RCV000013498 RCV000013499 RCV000013500 RCV000013503 RCV000013505 RCV000013508 RCV001387938 RCV003516379 RCV003516380 RCV003627996 RCV003628563 RCV003628491 RCV003627422 RCV001222838 RCV001852002 RCV005091000 RCV000763414 RCV005091206 RCV000556523 RCV000034284 RCV000034288 RCV005201288 RCV005360187 RCV005194771 RCV000034293 RCV000034296 RCV000811724 RCV000645601 RCV000645600 RCV000695655 RCV000691594 RCV000697266 RCV000696479 RCV001038140 RCV001223560 RCV001202273 RCV001253023 RCV001281678 |
| Familial atrial myxoma |
Pathogenic; Likely pathogenic |
rs281864791, rs281864801, rs1555815121 |
RCV000013501 RCV002496345 RCV000763414 |
| Hereditary cancer-predisposing syndrome |
Likely pathogenic; Pathogenic |
rs2143382661, rs2509404703, rs2509443931, rs2509446205, rs2509443639, rs886041228, rs2509437916, rs2509418693, rs281864790, rs281864799, rs2509431075, rs1555811753, rs2509399227, rs2509357138, rs1555813578, rs281864780 View all (1 more) |
RCV005712536 RCV002459110 RCV002387062 RCV002387082 RCV003377893 RCV006424608 RCV003296676 RCV005705138 RCV002345241 RCV004649063 RCV003298031 RCV004516145 RCV004516149 RCV004516153 RCV002341383 RCV005712126 |
| Pigmented nodular adrenocortical disease, primary, 1 |
Likely pathogenic; Pathogenic |
rs281864801, rs387906692, rs1555815121 |
RCV000013511 RCV001824573 RCV000763414 |
| PRKAR1A-related disorder |
Pathogenic |
rs886041228, rs387906692 |
RCV003409393 RCV003398560 |
|
| Disease Name |
Relationship Type |
References |
| Acrodysostosis |
Associate |
21651393, 22464250, 22464252, 25075981, 26405036, 26763073, 27825928, 30006632, 31041856, 32783359 |
| Acromegaly |
Associate |
19293268, 33939912, 36193716 |
| Acth Independent Macronodular Adrenal Hyperplasia |
Associate |
32638579 |
| Adenocarcinoma |
Associate |
35322195 |
| Adenoma |
Associate |
15761655 |
| Adenoma Oxyphilic |
Associate |
19265501 |
| Adrenal Cortex Diseases |
Associate |
22259056 |
| Adrenal Cortex Neoplasms |
Associate |
22112814, 22785148 |
| Adrenal Gland Diseases |
Associate |
22112814, 22259056, 33849881 |
| Adrenal Gland Neoplasms |
Associate |
32895490 |
| Adrenal Hyperplasia Congenital |
Associate |
30442879 |
| Adrenocortical Adenoma |
Associate |
27606678, 33564960 |
| Adrenocortical Carcinoma |
Associate |
25268545, 27165744, 32287321, 33564960 |
| Allan Herndon Dudley syndrome |
Stimulate |
25393625 |
| Aneuploidy |
Associate |
18056771 |
| Atrial myxoma familial |
Associate |
10974026, 16020889, 22341669, 30882689, 31874650, 33939912, 37452081 |
| Brachydactyly Type E |
Associate |
29499646 |
| Carcinogenesis |
Associate |
16041174, 19351815 |
| Carcinoma |
Associate |
26429873, 35151345 |
| Carcinoma Acinar Cell |
Associate |
21900385, 36549753 |
| Carcinoma Hepatocellular |
Associate |
18445140 |
| Carcinoma Non Small Cell Lung |
Associate |
34490727 |
| Carney Complex |
Associate |
10974026, 15282353, 15286154, 15761655, 16041174, 16464939, 17280861, 18445140, 19219454, 19265501, 19293268, 19773399, 19915019, 20358582, 20606737, 21047926, 21880053, 21900385, 22112814, 22166941, 22205709, 22341669, 24122441, 24144965, 24382573, 24886234, 25268545, 25393625, 25890363, 26405036, 27535175, 27580546, 27825928, 28012237, 28513873, 28640241, 28973408, 29222914, 29561454, 30442879, 31117334, 32302974, 32457700, 33849881, 33939912, 34049890, 34689149, 35128829, 35732416, 36193716, 36573035, 37670105, 38492686, 38626285 View all (39 more) |
| Carney Complex |
Inhibit |
12676898 |
| Carney Triad |
Associate |
35151345 |
| Cerebral Hemorrhage |
Associate |
31874650 |
| Cholangiocarcinoma |
Associate |
23480756, 30056600 |
| Chondroma |
Associate |
35151345 |
| Colorectal Neoplasms |
Associate |
26630397 |
| Cushing Syndrome |
Associate |
16464939, 19915019, 22112814, 23065993, 24248186, 26619967, 27580546, 28834963, 31996203, 32638579, 33939912, 35034934, 36193716 |
| Diabetes Mellitus Type 2 |
Associate |
31869513 |
| Disease |
Associate |
33849881 |
| Ear Diseases |
Associate |
21880053 |
| Endocrine Gland Neoplasms |
Associate |
12676898 |
| Endocrine System Diseases |
Associate |
19293268 |
| Endometrial Neoplasms |
Associate |
22706224 |
| Ermine phenotype |
Associate |
35732416 |
| Fibroadenoma |
Associate |
28513873 |
| Fibrolamellar hepatocellular carcinoma |
Associate |
29222914 |
| Ganglioneuroma |
Associate |
35151345 |
| Genetic Diseases Inborn |
Associate |
16464939 |
| Glioma |
Associate |
33885249 |
| Hallucinations |
Associate |
22166941 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
28513873 |
| Hyperplasia |
Associate |
15761655, 24248186 |
| Lentigo |
Associate |
16020889, 19293268, 22112814 |
| Leukemia Promyelocytic Acute |
Associate |
17712046 |
| Liver Diseases |
Associate |
32302974 |
| Lymphangioleiomyomatosis |
Associate |
37452081 |
| Melanoma |
Associate |
28186096, 35552752 |
| Meningioma |
Associate |
27548314 |
| Metaphyseal acroscyphodysplasia |
Associate |
30006632 |
| Multiple Endocrine Neoplasia |
Associate |
22461635 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate |
33858404 |
| Myocardial Infarction |
Associate |
36238493 |
| Myxoma |
Associate |
10974026, 16041174, 19219454, 19293268, 25890363, 28973408, 30882689, 31874650, 32302974, 35034934, 38492686 |
| Nasopharyngeal Carcinoma |
Associate |
18570662 |
| Neointima |
Associate |
18056771 |
| Neoplasm Metastasis |
Associate |
31874650 |
| Neoplasms |
Inhibit |
12676898, 18570662, 21900385, 28159925 |
| Neoplasms |
Associate |
15761655, 17712046, 19293268, 20358582, 25268545, 26429873, 30056600, 33148256, 33849881, 33939912, 35319526, 35438749, 36549753, 36943460, 37452081 |
| Neoplasms Adipose Tissue |
Associate |
24248186 |
| Neoplastic Syndromes Hereditary |
Associate |
26763073 |
| Neurilemmoma |
Associate |
19293268, 28012237 |
| Neuroectodermal Tumor Melanotic |
Associate |
28973408 |
| Nevus Blue |
Associate |
35319526 |
| Nevus Epithelioid and Spindle Cell |
Associate |
35319526 |
| Nonsyndromic Deafness |
Stimulate |
25393625 |
| Osseous Heteroplasia Progressive |
Associate |
31041856 |
| Ovarian Neoplasms |
Associate |
36943460 |
| Panniculitis |
Associate |
36549753 |
| Parathyroid Diseases |
Associate |
31041856 |
| Pigmentation Disorders |
Associate |
25890363, 33939912, 35319526 |
| Pigmented Nodular Adrenocortical Disease Primary 1 |
Associate |
16464939, 17280861, 18419788, 19293268, 19915019, 20351491, 22112814, 22259056, 22785148, 23065993, 24144965, 24248186, 24382573, 27580546, 27699247, 28834963, 30442879, 31074783, 32638579, 35034934, 35732416 View all (6 more) |
| Pigmented Nodular Adrenocortical Disease Primary 2 |
Associate |
28973408, 31996203 |
| Pituitary Diseases |
Associate |
33849881, 33939912 |
| Pituitary Neoplasms |
Associate |
15761655 |
| Pseudohypoparathyroidism |
Associate |
21651393, 26763073, 29499646, 31041856 |
| Pseudopseudohypoparathyroidism |
Associate |
31041856 |
| Pulmonary Disease Chronic Obstructive |
Associate |
34588774 |
| Respiratory Distress Syndrome |
Associate |
35151345 |
| Skin Diseases |
Associate |
19293268 |
| Spina Bifida Occulta |
Associate |
31041856 |
| Stroke |
Associate |
22341669 |
| Thymus Neoplasms |
Associate |
19265501 |
| Thyroid Carcinoma Anaplastic |
Associate |
25393625 |
| Thyroid Hormone Resistance Syndrome |
Associate |
21651393, 25075981, 32783359 |
| Thyroid Neoplasms |
Associate |
19293268 |
| Thyroid Neoplasms |
Stimulate |
25393625 |
| Thyroid Nodule |
Associate |
19265501 |
|