| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs150735127 |
RCV005907423 |
| Amyotrophic lateral sclerosis type 10 |
Uncertain significance |
rs368860175, rs202042335 |
RCV002463817 RCV002463846 |
| Cervical cancer |
Likely benign |
rs67894136 |
RCV005871166 |
| ERBB4-associated epilepsy syndrome |
Uncertain significance |
rs1471389448 |
RCV002276486 |
| ERBB4-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs376298364, rs60420993, rs746784831, rs372352845, rs1360886598, rs149713914, rs770938636, rs200755699, rs367976506, rs143251275, rs369165560, rs748663394, rs201202926, rs375082554, rs573759866, rs773220688, rs370840578, rs151042332, rs149272231, rs148992844, rs772267165, rs141452944, rs773536989, rs758510094, rs188179744, rs147639134, rs771809161, rs370764779, rs570149928, rs74898139, rs1416461622, rs1436708940, rs139122290, rs147226002, rs1160303514, rs756903297, rs766441342, rs748447524, rs1295442878, rs763212392, rs368312588, rs2062629569, rs750284038, rs1239168575, rs142765774, rs746347623, rs1195028619, rs767533097, rs2469642821, rs367762241, rs1331480344, rs781014963, rs547252285, rs2470070919, rs748235433, rs1574464362, rs1461973181, rs76603692, rs75536447, rs77309171, rs55923663, rs2229091, rs144821497, rs775875805, rs201744270, rs141594820, rs67894136, rs112007938, rs144311212, rs754487821 View all (55 more) |
RCV003908541 RCV003980724 RCV003408001 RCV003434333 RCV004752100 RCV003401878 RCV003893063 RCV003407938 RCV003956427 RCV004752080 RCV004752125 RCV004752124 RCV004752151 RCV004752140 RCV003951260 RCV003958505 RCV003941300 RCV003923493 RCV003913655 RCV003950900 RCV003963610 RCV003973672 RCV004750824 RCV003936546 RCV003898795 RCV004750831 RCV003395612 RCV003946314 RCV004750841 RCV003903723 RCV004750754 RCV003403900 RCV004750775 RCV003973610 RCV003406034 RCV003391603 RCV003410809 RCV003414155 RCV003427775 RCV003402645 RCV003402663 RCV004750921 RCV003948960 RCV004750924 RCV003901315 RCV003981092 RCV003893512 RCV003893498 RCV004750940 RCV004750951 RCV003894492 RCV003901947 RCV003939565 RCV003947109 RCV003969252 RCV003947289 RCV003969557 RCV003925915 RCV004731069 RCV003930559 RCV003910747 RCV003968371 RCV004751818 RCV003903049 RCV003933045 RCV003978098 RCV003978269 RCV003972904 RCV004751881 RCV003396744 |
| ERBB4-related Non-syndromic intellectual disability or epilepsy |
Uncertain significance |
rs377251473 |
RCV001839089 |
| Familial cancer of breast |
Benign; Likely benign |
rs839541, rs77309171, rs150735127 |
RCV005924677 RCV005902666 RCV005907422 |
| Frontotemporal dementia |
Uncertain significance |
rs770460785 |
RCV001848612 |
| Hepatocellular carcinoma |
Benign |
rs60420993 |
RCV005867199 |
| Intellectual disability |
Uncertain significance |
rs772401914 |
RCV006249794 |
| Lung cancer |
Benign |
rs150735127 |
RCV005907425 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs6738304 |
RCV005921808 |
| Ovarian cancer |
Benign |
rs60420993 |
RCV005867200 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance; Benign |
rs749222561, rs150735127 |
RCV005928474 RCV005907424 |
| Schizophrenia |
Uncertain significance |
rs2469879216 |
RCV002463541 |
| Teratoma |
Uncertain significance |
rs2125406991 |
RCV003221386 |
| Uterine carcinosarcoma |
Conflicting classifications of pathogenicity |
rs76603692 |
RCV005905333 |
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate |
34886903 |
| Adenocarcinoma |
Associate |
26315110, 26317919, 31407221 |
| Adenocarcinoma of Lung |
Associate |
17487277, 18948947, 26254096, 26824984 |
| Adenomatous Polyposis Coli |
Associate |
36264285 |
| Adrenocortical Carcinoma |
Associate |
25078331 |
| Aicardi Syndrome |
Associate |
26011570 |
| Alzheimer Disease |
Associate |
22486522 |
| Alzheimer Disease |
Inhibit |
37533101 |
| Amyotrophic Lateral Sclerosis |
Associate |
24119685 |
| Amyotrophic lateral sclerosis 1 |
Associate |
24119685 |
| Aortic Aneurysm Familial Abdominal 1 |
Associate |
22115776 |
| Aortic Coarctation |
Associate |
21290564 |
| Aortic Valve Stenosis |
Associate |
21290564 |
| Asthma |
Associate |
24152222, 29973587 |
| Astrocytoma |
Associate |
19017278 |
| Autism Spectrum Disorder |
Associate |
22952857 |
| Bipolar Disorder |
Associate |
21232925, 21637803, 25744101, 30120408 |
| Brain Neoplasms |
Associate |
19017278, 23224376 |
| Breast Neoplasms |
Associate |
11390655, 15084248, 15735025, 16251361, 16417655, 16428439, 16606438, 16778220, 17201160, 17299391, 17465220, 17505063, 17661082, 17903305, 18182100, 18985033, 19624808, 19808643, 20603612, 21092257, 21396094, 22092409, 22452962, 24091566, 24333426, 24829397, 25003574, 25036186, 25492965, 26011570, 27569073, 28027327, 28508829, 28750640, 30087366, 30458882, 34572592, 34971015, 7568210 View all (24 more) |
| Calcinosis Cutis |
Stimulate |
23681745 |
| Carcinogenesis |
Associate |
21407808, 23492901 |
| Carcinoid Tumor |
Associate |
38237798 |
| Carcinoma |
Associate |
23917679 |
| Carcinoma Acinar Cell |
Associate |
27713419 |
| Carcinoma Basal Cell |
Associate |
33928395 |
| Carcinoma Embryonal |
Associate |
32999426 |
| Carcinoma Hepatocellular |
Associate |
22294845 |
| Carcinoma in Situ |
Associate |
23927961 |
| Carcinoma Large Cell |
Associate |
30793508 |
| Carcinoma Merkel Cell |
Associate |
28359267 |
| Carcinoma Neuroendocrine |
Associate |
36653904 |
| Carcinoma Non Small Cell Lung |
Associate |
17094398, 23154546, 34106605, 34620079 |
| Carcinoma Ovarian Epithelial |
Inhibit |
30948450 |
| Carcinoma Papillary |
Associate |
23917679 |
| Carcinoma Renal Cell |
Associate |
21253009, 22554477, 29353061, 29635281 |
| Carcinoma Squamous Cell |
Associate |
17465227, 26479420, 36780540 |
| Cardiomyopathies |
Associate |
30224945 |
| Cardiomyopathy infantile histiocytoid |
Associate |
27282351 |
| Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
Associate |
16397033 |
| Chromosome 1q21.1 Deletion Syndrome 1.35 Mb |
Associate |
19017278 |
| Cognition Disorders |
Associate |
21232925, 33603162 |
| Colonic Neoplasms |
Associate |
16507107, 34794066 |
| Colonic Neoplasms |
Inhibit |
36442170 |
| Colorectal Neoplasms |
Associate |
16507107, 25335735, 25366420, 25416285, 26797410, 28629469, 29945573, 32319604, 34794066, 35213358, 35505597 |
| Coronary Artery Disease |
Stimulate |
12869389 |
| Coronavirus Infections |
Associate |
33968364 |
| COVID 19 |
Associate |
38575325 |
| Death |
Associate |
22115776 |
| Depressive Disorder |
Associate |
29973587 |
| Depressive Disorder Major |
Associate |
30120408 |
| Dermatitis Exfoliative |
Associate |
33603162 |
| Diabetes Gestational |
Associate |
38149095 |
| Diabetes Mellitus Type 2 |
Associate |
23369358 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
22415601, 22990204 |
| Endocrine System Diseases |
Associate |
22854050, 37460683 |
| Endodermal Sinus Tumor |
Associate |
32999426 |
| Endometrial Neoplasms |
Associate |
20664599 |
| Ependymoma |
Associate |
25859842 |
| Epidermolysis bullosa with pyloric atresia |
Associate |
19017278 |
| Epilepsies Myoclonic |
Associate |
18854870 |
| Epilepsy |
Associate |
28273943, 33603162 |
| Esophageal Neoplasms |
Associate |
25538945, 28467773, 30115035 |
| Esophageal Squamous Cell Carcinoma |
Associate |
24438167, 30975989 |
| Fatty Liver |
Inhibit |
39735994 |
| Fatty Liver Alcoholic |
Inhibit |
39735994 |
| Fibrocystic Breast Disease |
Associate |
27713419 |
| Frontotemporal Dementia |
Associate |
22115776 |
| Gallbladder Neoplasms |
Associate |
38092180 |
| Gastrointestinal Neoplasms |
Associate |
36264285 |
| Germinoma |
Associate |
32999426 |
| Glioblastoma |
Inhibit |
20467331 |
| Glioblastoma |
Associate |
29342193 |
| Glioma |
Associate |
15812817, 16097449, 33892666 |
| Guillain Barre Syndrome |
Inhibit |
37221406 |
| Heart Diseases |
Associate |
30224945 |
| Heart Failure |
Associate |
31960146 |
| Hemorrhage |
Associate |
36264285 |
| Hepatoblastoma |
Associate |
27910913 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit |
20603612, 36442170 |
| Hirschsprung Disease |
Associate |
29483666 |
| Huntington Disease |
Associate |
33049985 |
| Hyperandrogenism |
Associate |
32289280 |
| Hypertension Pulmonary |
Associate |
31960146 |
| Hypogonadism |
Associate |
30098700 |
| Hypoplastic Left Heart Syndrome |
Associate |
21290564 |
| Idiopathic Pulmonary Fibrosis |
Stimulate |
35130915 |
| Infertility |
Associate |
32289280 |
| Inflammation |
Associate |
24944161, 30224945 |
| Inflammatory Breast Neoplasms |
Associate |
30086764 |
| Intellectual Disability |
Associate |
33603162 |
| Iron Overload |
Inhibit |
31960146 |
| Kidney Failure Chronic |
Associate |
31960146 |
| Leukemia Lymphoma Adult T Cell |
Associate |
34147695 |
| Leukoplakia |
Associate |
23492901 |
| Leukoplakia Oral |
Associate |
23492901 |
| Liver Neoplasms |
Associate |
35426263 |
| Lung Neoplasms |
Associate |
31182981 |
| Lymphatic Metastasis |
Stimulate |
32319604 |
| Lymphatic Metastasis |
Associate |
34106605 |
| Lymphoma T Cell Peripheral |
Associate |
34147695 |
| Medulloblastoma |
Associate |
19017278 |
| Melanoma |
Associate |
19800573, 20404484, 23237222, 24258993, 24628946, 24709886, 28356599, 33378376, 37160315 |
| Melanoma Cutaneous Malignant |
Associate |
27640074 |
| Mental Disorders |
Associate |
21232925, 21832192, 25744101, 38285192 |
| Mitochondrial Diseases |
Associate |
16778220 |
| Mood Disorders |
Associate |
21637803, 30120408 |
| Multiple Myeloma |
Associate |
14576062 |
| Nasal Polyps |
Associate |
27285994 |
| Neoplasm Metastasis |
Associate |
17201160, 23917679, 24091566, 26254096, 27270314, 27910913 |
| Neoplasm Metastasis |
Stimulate |
23681745 |
| Neoplasms |
Associate |
11692142, 11696537, 15976335, 16251361, 16507107, 16685269, 17465220, 17638867, 17661082, 19624808, 19800573, 20035613, 20071783, 20404484, 20420713, 20664599, 21110957, 21253009, 21896992, 22357666, 23681745, 23991224, 24318637, 24333426, 24438167, 24829397, 24944161, 25036186, 25538945, 25922907, 26053092, 27225414, 27340278, 27844328, 28042953, 28467773, 28619094, 29141020, 30475948, 30896867, 31182981, 31253872, 31359505, 34712959, 34971015, 35739509, 37460683, 37607916, 37678511, 7992839 View all (35 more) |
| Neoplasms |
Inhibit |
16778220, 18948947, 20467331, 20603612, 24728052, 25492965, 29342193, 29353061, 36442170, 37047493 |
| Neoplasms Squamous Cell |
Associate |
25538945 |
| Neuralgia |
Associate |
29141020 |
| Neuroblastoma |
Associate |
22415601 |
| Neuroectodermal Tumors |
Associate |
37160315 |
| Neuroendocrine Tumors |
Associate |
28042953 |
| Neuroinflammatory Diseases |
Stimulate |
32690068 |
| Nonsyndromic Holoprosencephaly |
Associate |
33603162 |
| Obesity |
Stimulate |
36411648 |
| Obesity Morbid |
Associate |
31852448 |
| Oligomenorrhea |
Associate |
32289280 |
| Oropharyngeal Neoplasms |
Associate |
26949921 |
| Osteosarcoma |
Associate |
16007579 |
| Ovarian Neoplasms |
Associate |
24901400, 28178720, 30485824, 33036254 |
| Pancreatic Intraductal Neoplasms |
Associate |
27282351 |
| Pancreatic Neoplasms |
Associate |
19304440, 21110957, 27871278 |
| Pancreatitis |
Associate |
21110957 |
| Parkinson Disease |
Associate |
27640074 |
| Penile Neoplasms |
Associate |
28751665 |
| Peritoneal Neoplasms |
Associate |
26811494 |
| Personality Disorders |
Associate |
23681745 |
| Pleural Effusion |
Stimulate |
26254096 |
| Polycystic Ovary Syndrome |
Associate |
26416764, 28068351, 28195137, 32289280, 35157673 |
| Pre Eclampsia |
Associate |
24944161 |
| Precancerous Conditions |
Inhibit |
24318637 |
| Prolactinoma |
Associate |
24287797 |
| Prostatic Neoplasms |
Associate |
16397033, 17922460, 18282083, 23661456, 25472581 |
| Prostatitis |
Associate |
16934755 |
| Psychomotor Disorders |
Associate |
18854870 |
| Psychotic Disorders |
Associate |
22115776 |
| Pterygium |
Associate |
33299863 |
| Sarcoma |
Associate |
29801054 |
| Sarcoma Ewing |
Associate |
17409416, 23681745, 28542597 |
| Schizophrenia |
Associate |
17579610, 18243664, 18854870, 20713722, 21232925, 21637803, 21832192, 21876540, 22115776, 22952857, 23752247, 25744101, 26337038, 30120408, 32690068 |
| Sepsis |
Associate |
30224945 |
| Severe Acute Respiratory Syndrome |
Associate |
33968364 |
| smoker's inclusion bodies |
Associate |
23752247 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
14595263, 28984303, 31109699 |
| Status Asthmaticus |
Associate |
29973587 |
| Stomach Neoplasms |
Associate |
22606006, 25583476, 26811494, 27270314, 33021020, 33900127 |
| Stomach Neoplasms |
Inhibit |
24728052 |
| Substance Related Disorders |
Associate |
23752247 |
| Teratoma |
Associate |
37160315 |
| Tertiary Lymphoid Structures |
Associate |
38151289 |
| Thyroid Cancer Papillary |
Associate |
25922907 |
| Thyroid Neoplasms |
Associate |
23917679 |
| Tobacco Use Disorder |
Associate |
23752247 |
| Trigeminal Neuralgia |
Associate |
28273943 |
| Triple Negative Breast Neoplasms |
Associate |
24505496, 26907936 |
| Urethral Neoplasms |
Associate |
18006009 |
| Urinary Bladder Neoplasms |
Associate |
15583696, 18006009 |
| Urinary Bladder Neurogenic |
Associate |
38285192 |
| Uterine Cervical Neoplasms |
Associate |
23927961 |
| Ventricular Outflow Obstruction Left |
Associate |
21290564 |
|