|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| LEOPARD Syndrome |
leopard syndrome 1 |
rs121918455, rs397507549, rs397507546, rs397507531, rs121918456, rs121918470, rs121918457, rs397507527, rs267606990, rs397507542, rs121918462, rs727503380, rs397507510, rs397507548, rs397507550, rs28933386, rs121918468, rs397507519, rs397507540, rs397516801, rs376607329, rs121918463, rs121918469, rs121918461, rs397507541, rs397507505 View all (11 more) |
N/A |
| Metachondromatosis |
metachondromatosis |
rs397507545, rs121918461, rs397507527, rs267606990, rs121918462, rs727503380, rs397507531, rs397516807, rs398122857, rs397507546, rs398122858, rs397507510, rs398122859, rs397507550, rs387907157, rs397507519, rs398122860, rs376607329, rs121918463, rs398122861, rs267606989, rs387907158, rs1592852978, rs398122862 View all (9 more) |
N/A |
| Myelomonocytic Leukemia |
juvenile myelomonocytic leukemia |
rs121918465 |
N/A |
| Noonan Syndrome |
noonan syndrome 1, Noonan syndrome and Noonan-related syndrome, noonan syndrome, noonan syndrome 3 |
rs121918462, rs397507527, rs121918453, rs397507512, rs727503380, rs267606990, rs397507541, rs397507531, rs397507517, rs121918464, rs397507501, rs397507509, rs397516802, rs121918469, rs397507539, rs397507520, rs121918454, rs121918465, rs397507518, rs397507523, rs397507506, rs397507549, rs397507510, rs397516803, rs397507546, rs121918466, rs397507524, rs121918470, rs121918457, rs121918463, rs121918456, rs886039463, rs397507503, rs397507525, rs397516809, rs397507529, rs397507543, rs397507547, rs397507550, rs121918455, rs121918460, rs397507526, rs397516810, rs397507540, rs28933386, rs397507513, rs121918461, rs397507504, rs397507519, rs1052382672, rs376607329, rs121918458, rs397507514, rs397507544, rs1398859175, rs397507530, rs397516801, rs397507507, rs80338836, rs121918459, rs727503381, rs397507545, rs1592852902, rs397507505, rs121918468, rs397507537, rs397507511, rs397507548, rs397507536 View all (54 more) |
N/A |
| Noonan syndrome with multiple lentigines |
noonan syndrome with multiple lentigines |
rs121918456, rs397507527, rs397507542, rs121918457, rs121918453, rs121918470, rs121918468, rs397507548, rs397507537 |
N/A |
| Congenital Long QT Syndrome |
congenital long qt syndrome |
rs397507548 |
N/A |
| Hypertrophic cardiomyopathy |
hypertrophic cardiomyopathy |
rs397507520 |
N/A |
| Male infertility |
male infertility with azoospermia or oligozoospermia due to single gene mutation |
rs397507505 |
N/A |
| Nonimmune Hydrops Fetalis |
non-immune hydrops fetalis |
rs886039463, rs121918463, rs121918461 |
N/A |
| ventricular tachycardia |
Ventricular tachycardia |
rs1592847299 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Achondroplasia |
Associate
|
30355600 |
| Acrocephalosyndactylia |
Associate
|
23726368 |
| Adenocarcinoma |
Associate
|
26317919 |
| Adenocarcinoma of Lung |
Associate
|
26066407, 29483824, 38280930 |
| Adenocarcinoma of Lung |
Inhibit
|
35802774 |
| Anodontia |
Associate
|
33167018 |
| Arthritis Rheumatoid |
Associate
|
23335101 |
| Ascites |
Associate
|
23321623 |
| Astrocytoma |
Associate
|
32859279, 35778969 |
| Atrial Fibrillation |
Associate
|
37263975 |
| Atrioventricular Septal Defect |
Associate
|
22781091 |
| Atrophy |
Associate
|
17211494, 18712962, 19589142, 22788847 |
| Autonomic Nervous System Diseases |
Associate
|
35778969 |
| Blood Coagulation Disorders Inherited |
Associate
|
20577567 |
| Bone Diseases Metabolic |
Associate
|
37525886 |
| Brain Diseases |
Associate
|
38545656 |
| Brain Injuries Diffuse |
Associate
|
37960778 |
| Brain Neoplasms |
Associate
|
36973520 |
| Breast Neoplasms |
Associate
|
17537730, 23672411, 33755016, 35365185, 35739379, 36969745 |
| Breast Neoplasms |
Inhibit
|
35802774 |
| Buschke Lowenstein Tumor |
Associate
|
18543080 |
| Cafe au Lait Spots |
Associate
|
12058348, 12161596 |
| Carcinogenesis |
Associate
|
21695063, 26158864, 26695153, 37344519 |
| Carcinoma Giant Cell |
Associate
|
19352411, 29848529 |
| Carcinoma Hepatocellular |
Inhibit
|
25198338, 28460481 |
| Carcinoma Hepatocellular |
Associate
|
25198338, 35503714 |
| Carcinoma Large Cell |
Associate
|
26317919 |
| Carcinoma Non Small Cell Lung |
Associate
|
22777356, 27530552, 30473379, 31373232, 32819122, 33324391, 34437586, 34490728, 37445722, 37934115 |
| Carcinoma Pancreatic Ductal |
Associate
|
26695153 |
| Carcinoma Renal Cell |
Associate
|
26911335 |
| Carcinoma Renal Cell |
Inhibit
|
35802774 |
| Carcinoma Squamous Cell |
Associate
|
23822953 |
| Cardiofaciocutaneous syndrome |
Associate
|
31560489 |
| Cardiomegaly |
Associate
|
30732632 |
| Cardiomyopathies |
Associate
|
29030401, 36357925 |
| Cardiomyopathy Hypertrophic |
Associate
|
11992261, 22585553, 29030401, 29696744, 30732632, 30784236, 32150461, 32824488, 37466024, 38277535 |
| Carotid Stenosis |
Associate
|
37644056 |
| Cell Transformation Neoplastic |
Associate
|
35739379 |
| Central Nervous System Vascular Malformations |
Associate
|
36864519 |
| Cerebral Infarction |
Associate
|
36691064 |
| Cherubism |
Associate
|
29848529 |
| Chondroma |
Associate
|
29373887 |
| Chordoma |
Associate
|
37024492 |
| Chromosome Aberrations |
Associate
|
34847232 |
| Chronobiology Disorders |
Associate
|
26456833 |
| Chylothorax |
Associate
|
36544606 |
| Ciuffo Syndrome |
Associate
|
34488904 |
| Cognition Disorders |
Associate
|
19077116, 33119062 |
| Colitis Ulcerative |
Associate
|
19160029 |
| Colorectal Neoplasms |
Associate
|
21528083, 28675510, 29693170, 34083590, 38358185 |
| Congenital Abnormalities |
Associate
|
22585553, 36849876 |
| Coronary Disease |
Inhibit
|
27997991 |
| Costello Syndrome |
Associate
|
17483702, 30355600, 31560489 |
| Cryptorchidism |
Associate
|
32164556 |
| Cytokine Release Syndrome |
Associate
|
23335101 |
| Daneman Davy Mancer syndrome |
Associate
|
23321623 |
| Darier Disease |
Associate
|
9529352 |
| Deafness |
Associate
|
24891296, 34488904, 35248088 |
| Death |
Associate
|
34847232 |
| Demyelinating Diseases |
Associate
|
28729690 |
| Dengue |
Associate
|
21502191 |
| Developmental Disabilities |
Associate
|
14644997, 24891296, 27030275, 32188694, 32871078, 33119062, 33452774, 34411482, 36849876, 36973520, 37344519, 38085330, 38129686 |
| Disease |
Associate
|
31439678, 33226994 |
| Disorder of Sex Development 46 XY |
Associate
|
33424767 |
| Down Syndrome |
Associate
|
27666924 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
37339995 |
| Dwarfism Pituitary |
Associate
|
36714562 |
| Edema |
Associate
|
32144894 |
| Encephalitis Tick Borne |
Associate
|
34459887 |
| Endometrial Neoplasms |
Associate
|
32619126, 9408887 |
| Endometriosis |
Associate
|
32619126 |
| Eosinophilic enteropathy |
Associate
|
40514730 |
| Epidermolysis bullosa simplex Ogna type |
Associate
|
28675510 |
| Epilepsy |
Associate
|
36973520 |
| Epilepsy Familial Mesial Temporal Lobe |
Associate
|
37126322 |
| Exostoses Multiple Hereditary |
Associate
|
40225915 |
| Facial Dysmorphism with Multiple Malformations |
Associate
|
15248152, 24891296 |
| Fetal Diseases |
Associate
|
36349709 |
| Fibrosarcoma |
Associate
|
9794795 |
| Fibrosis |
Associate
|
28460481 |
| Focal cortical dysplasia of Taylor |
Associate
|
36864519 |
| Funnel Chest |
Associate
|
39596579 |
| Ganglioglioma |
Associate
|
36973520 |
| Gastritis Atrophic |
Associate
|
26158864 |
| Genetic Diseases Inborn |
Associate
|
15987685, 18854871, 20577567, 24628801, 33686258 |
| Glioblastoma |
Associate
|
14701753, 21934682, 27579614, 35121903 |
| Glioma |
Associate
|
28620155, 35484611, 36462464, 37845206 |
| Gliosarcoma |
Associate
|
34162346 |
| Growth Disorders |
Associate
|
15248152, 16498234, 23624134, 24891296, 30541462, 32164556, 36714562, 37605180 |
| Head and Neck Neoplasms |
Associate
|
20700123, 23363816, 39596579 |
| Head and Neck Neoplasms |
Inhibit
|
35802774 |
| Hearing Loss |
Associate
|
19864201, 35248088, 35982127, 37017887 |
| Heart Defects Congenital |
Associate
|
15248152, 22503907, 22781091, 30732632, 32144894, 32341405, 35440950, 36496429 |
| Heart Diseases |
Associate
|
14644997, 23321623, 32037394, 32365526, 33452774, 34488904, 39596579 |
| Heart Failure |
Associate
|
30732632 |
| Heart hand syndrome Spanish type |
Associate
|
32164556 |
| Heart Septal Defects Atrial |
Associate
|
30784236, 35440950 |
| Helicobacter Infections |
Associate
|
26158864, 27614952 |
| Hemangioblastoma |
Associate
|
26768750 |
| Hematologic Neoplasms |
Associate
|
15987685, 28098151, 32794475, 34411482, 38129686 |
| Hemochromatosis |
Associate
|
35002956 |
| Hemorrhage |
Associate
|
34857025, 37302266, 38236412 |
| Hepatitis B |
Associate
|
23672411 |
| Hepatitis Chronic |
Stimulate
|
28460481 |
| Hereditary pancreatitis |
Associate
|
19822020 |
| Hernia Inguinal |
Associate
|
31910207 |
| Histiocytic Sarcoma |
Associate
|
30626916, 31439678 |
| Hydrops Fetalis |
Associate
|
23321623, 32144894, 33686258, 35397126, 36959127 |
| Hydrothorax |
Associate
|
23321623 |
| Hypereosinophilic Syndrome |
Associate
|
40514730 |
| Hyperinsulinism |
Associate
|
25042561 |
| Hyperplasia |
Associate
|
21695063 |
| Hypertelorism |
Associate
|
32164556 |
| Hypertension |
Associate
|
25820152 |
| Hypothyroidism |
Associate
|
33226994 |
| Hypoxia |
Inhibit
|
24860972 |
| Infections |
Associate
|
20004456, 27186639 |
| Inflammation |
Associate
|
23363816 |
| Influenza Human |
Associate
|
22419161, 35396627, 37445672 |
| Intellectual Disability |
Associate
|
19864201 |
| Intestinal Diseases |
Associate
|
19822020 |
| Intracranial Hemorrhages |
Associate
|
34904514 |
| Ischemia |
Associate
|
25672415 |
| Isodicentric Chromosome 15 Syndrome |
Associate
|
34847232 |
| Keratoconus |
Associate
|
29948256 |
| Laron Syndrome |
Associate
|
34136918 |
| Learning Disabilities |
Associate
|
32341405 |
| Lentigo |
Associate
|
39596579 |
| LEOPARD Syndrome |
Associate
|
12058348, 12161596, 16358218, 18854871, 19864201, 20535210, 22585553, 24628801, 24767283, 24775816, 24891296, 24939587, 25708222, 25917897, 29084544, 30640061, 31277675, 31560489, 32365526, 32871078, 34009903, 34488904 View all (7 more) |
| Leukemia |
Associate
|
14644997, 14982869, 16030196, 16358218, 17053061, 20510203, 21365683, 23082805, 27030275, 28729690, 31657576, 32188694, 33284559, 34411482, 34896393, 34981560, 35350997 View all (2 more) |
| Leukemia Lymphocytic Chronic B Cell |
Associate
|
23167493, 36567979 |
| Leukemia Monocytic Acute |
Associate
|
14982869 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
16278304, 23754495, 35896598 |
| Leukemia Myeloid |
Associate
|
14644997, 17942397, 23082805 |
| Leukemia Myeloid Acute |
Associate
|
14982869, 18328949, 22131879, 25573287, 27992414, 29437595, 30760869, 33081843, 33730843, 34064268, 34459887, 34847232, 34896393, 35390143, 35562747, 35833755, 35895896, 36318614, 37937729 View all (4 more) |
| Leukemia Myeloid Chronic Atypical BCR ABL Negative |
Associate
|
28314085 |
| Leukemia Myelomonocytic Chronic |
Associate
|
20880116 |
| Leukemia Myelomonocytic Juvenile |
Associate
|
14644997, 14982869, 15928039, 18000165, 19874312, 20408841, 22753870, 23092099, 23620576, 23696637, 23918763, 26316488, 26456833, 26983639, 28098151, 28179213, 29259247, 29884903, 31657576, 31807902, 33139265, 37445722 View all (7 more) |
| Leukemia Promyelocytic Acute |
Associate
|
26886259 |
| Leukemia T Cell |
Associate
|
36380727 |
| Lissencephaly X Linked 2 |
Associate
|
34488904 |
| Liver Neoplasms |
Associate
|
35503714 |
| Lung Neoplasms |
Associate
|
23822953, 26056041, 37339995, 37445722, 38280930 |
| Lupus Erythematosus Systemic |
Stimulate
|
31616406 |
| Lymphangioma Cystic |
Associate
|
23321623 |
| Lymphatic Abnormalities |
Associate
|
35778409, 36959127 |
| Lymphatic Diseases |
Associate
|
23321623 |
| Lymphatic Metastasis |
Associate
|
23321164, 27614952, 38358185 |
| Lymphatic Metastasis |
Stimulate
|
24439919 |
| Lymphedema |
Associate
|
22529953 |
| Lymphoma |
Associate
|
25193962 |
| Lymphoma B Cell |
Associate
|
31439678 |
| Lymphoma B Cell Marginal Zone |
Associate
|
27864293 |
| Lymphoma Large Cell Anaplastic |
Associate
|
17483340, 32054954 |
| Lymphoma Non Hodgkin |
Associate
|
24885312, 29599344, 36226386 |
| Macular Degeneration |
Associate
|
35186229 |
| Malformations of Cortical Development |
Associate
|
36226386 |
| Malformations of Cortical Development Group I |
Associate
|
24809452 |
| Marfan Syndrome |
Associate
|
33226994 |
| Mediastinal Neoplasms |
Associate
|
18328949 |
| Medulloblastoma |
Associate
|
28035977 |
| Megalencephaly |
Associate
|
24939587 |
| Melanoma |
Associate
|
25917897, 28870692 |
| Metachondromatosis |
Associate
|
20577567, 21533187, 29373887, 29703018, 40225915 |
| Mitral Valve Insufficiency |
Associate
|
22781091 |
| Mouth Neoplasms |
Associate
|
24439919 |
| Multiple Myeloma |
Associate
|
10880513, 28369102, 29884741 |
| Multiple Pterygium Syndrome Autosomal Dominant |
Associate
|
22503907 |
| Multiple System Atrophy |
Associate
|
36973520 |
| Musculoskeletal Abnormalities |
Associate
|
32365526 |
| Mycosis Fungoides |
Associate
|
34831413 |
| Myelodysplastic Syndromes |
Associate
|
24212846, 27884971, 27992414, 32476595, 36380727, 40725152 |
| Myeloproliferative Disorder Chronic with Eosinophilia |
Associate
|
35778969 |
| Myeloproliferative Disorders |
Associate
|
15928039, 28729690 |
| Myopia |
Associate
|
29346494 |
| Narcolepsy |
Associate
|
23950869 |
| Nasopharyngeal Carcinoma |
Associate
|
25109634, 36107539 |
| Neoplasm Metastasis |
Associate
|
23672411, 25331952, 34389690, 34896393, 35739379, 36969745, 38358185 |
| Neoplasms |
Associate
|
14644997, 15987685, 18328949, 18645011, 19915046, 20004456, 21407260, 23321164, 23672411, 23980151, 24860972, 25331952, 26204488, 26491227, 27030275, 27683039, 29599344, 29884741, 31439678, 32001483, 32079522, 32087721, 32188694, 32794475, 32819122, 32859279, 33413561, 33507258, 33577785, 33755016, 34389690, 34411482, 34437586, 34490728, 34725361, 34896393, 35408869, 35484611, 35503714, 35802774, 35896598, 36349709, 36681091, 36828281, 36969745, 37269335, 37302266, 37339995, 37344519, 37843608, 38085330, 38129686, 38358185 View all (38 more) |
| Neoplasms |
Stimulate
|
24439919 |
| Neoplasms |
Inhibit
|
24809452, 25198338, 27077911, 28460481, 29703018 |
| Neoplasms Neuroepithelial |
Associate
|
32859279 |
| Netherton Syndrome |
Associate
|
29948256, 33226994 |
| Neuroblastoma |
Associate
|
18328949, 37161925 |
| Neurodegenerative Diseases |
Associate
|
25672415, 37960778 |
| Neurodevelopmental Disorders |
Associate
|
36430334 |
| Neurofibromatosis Noonan syndrome |
Associate
|
26757980 |
| Neurofibrosarcoma |
Associate
|
32590748, 33452215 |
| Neurologic Manifestations |
Associate
|
32493428 |
| Neutropenia Severe Congenital Autosomal Recessive 3 |
Stimulate
|
10378893 |
| Nonsyndromic Deafness |
Associate
|
29346494 |
| Noonan like syndrome |
Associate
|
11992261, 19352411, 29848529 |
| Noonan Syndrome |
Associate
|
11992261, 12058348, 12161596, 12529707, 14644997, 14982869, 15248152, 15928039, 15987685, 16358218, 16498234, 16990350, 17056636, 17339163, 17483702, 18328949, 18854871, 19077116, 19352411, 19760651, 20186801, 20602484, 21365683, 21407260, 22253195, 22465605, 22503907, 22605701, 22711529, 22777296, 23321623, 23624134, 23726368, 23756559, 23771920, 24183200, 24219368, 24220280, 24628801, 24754368, 24891296, 24939587, 25611800, 26084119, 26444854, 26456833, 28607217, 28921562, 29084544, 29848529, 29907801, 29948256, 30059958, 30541462, 30784236, 31277675, 31292302, 31560489, 31657576, 31936901, 32144894, 32164556, 32394265, 32493428, 32546215, 32721402, 32824488, 32867556, 33119062, 33167018, 33686258, 34009903, 34032360, 34136918, 34904514, 35002956, 35778409, 36349709, 36430334, 36544606, 36566191, 36973520, 37302266, 37407569, 37525886, 37588986, 38160629, 38236412, 38254922, 39596579, 39596663, 40514730 View all (77 more) |
| Noonan Syndrome |
Stimulate
|
38085330 |
| Optic Nerve Glioma |
Associate
|
33098465 |
| Oral Submucous Fibrosis |
Associate
|
38050610 |
| Osteochondrodysplasias |
Associate
|
30541462 |
| Osteochondroma |
Associate
|
29373887, 37525886, 40225915 |
| Osteosarcoma |
Associate
|
35024182 |
| Ovarian Diseases |
Associate
|
32619126 |
| Papillomavirus Infections |
Associate
|
18543080 |
| Patel Bixler syndrome |
Associate
|
24037001 |
| Pediatric Obesity |
Associate
|
28729690 |
| Peptic Ulcer |
Associate
|
18712962 |
| Peripheral Arterial Disease |
Associate
|
34601942 |
| Peripheral Arterial Occlusive Disease 1 |
Associate
|
32481342 |
| Periventricular Nodular Heterotopia |
Associate
|
36226386 |
| Polycythemia Vera |
Associate
|
26491227 |
| Polyhydramnios |
Associate
|
23321623 |
| Polymicrogyria |
Associate
|
36226386 |
| Porokeratosis punctata palmaris et plantaris |
Inhibit
|
24037001 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
14982869, 27683039, 28245838, 28408464, 31102422 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
15667533, 15842656, 23167493, 27022003, 31409822, 36380727 |
| Premature Birth |
Associate
|
28729690 |
| Pressure Ulcer |
Associate
|
25820152 |
| Progressive Transformation of Germinal Centers |
Associate
|
25193962 |
| Prostatic Neoplasms |
Associate
|
23192641 |
| Prostatitis |
Associate
|
23192641 |
| Pulmonary Valve Stenosis |
Associate
|
11992261, 24891296, 30784236, 39596663 |
| Rectal Neoplasms |
Associate
|
36142267 |
| Refractive Errors |
Associate
|
29346494 |
| Reperfusion Injury |
Associate
|
25672415 |
| Salter Harris Fractures |
Associate
|
36714562 |
| Sarcoma Ewing |
Associate
|
27077911 |
| Sarcoma Myeloid |
Associate
|
30922345, 35562747 |
| Seizures |
Associate
|
36973520 |
| Sertoli Cell Only Syndrome |
Associate
|
25193962 |
| Sex Chromosome Disorders of Sex Development |
Associate
|
33424767 |
| SHORT syndrome |
Associate
|
32546215 |
| Silver Russell Syndrome |
Associate
|
32546215 |
| Simpson Golabi Behmel syndrome |
Associate
|
35778969 |
| Skin Abnormalities |
Associate
|
12161596 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
20700123, 24439919, 25980437, 26204488, 34663837, 38231444 |
| Stickler syndrome type 1 |
Associate
|
30541462 |
| Stomach Neoplasms |
Associate
|
17211494, 19589142, 19822020, 22325465, 22788847, 23321164, 23382639, 23464450, 26158864, 27614952 |
| Stomach Neoplasms |
Inhibit
|
26158864 |
| Stroke Lacunar |
Associate
|
35733147 |
| Syndrome |
Associate
|
32546215 |
| Tertiary Lymphoid Structures |
Stimulate
|
23672411 |
| Tetralogy of Fallot |
Associate
|
22503907 |
| Thrombocythemia Essential |
Associate
|
26990535 |
| Thrombocytopenia |
Associate
|
32144894, 34904514 |
| Thrombocytopenia Neonatal Alloimmune |
Associate
|
34904514 |
| Thrombosis |
Associate
|
37302266, 38236412, 38358185 |
| Thyroid Neoplasms |
Associate
|
33413561 |
| Thyroid Nodule |
Inhibit
|
28460481 |
| Tourette Syndrome |
Associate
|
29084544 |
| Triple Negative Breast Neoplasms |
Associate
|
25885600, 34389690, 36788078 |
| Uterine Cervical Neoplasms |
Associate
|
18543080 |
| Vascular Malformations |
Associate
|
35778969 |
| Xanthogranuloma Juvenile |
Associate
|
34032360 |
| Zika Virus Infection |
Associate
|
30044847 |
|