|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
rs1554859966, rs1589590737, rs730882121, rs1554862197, rs1589591659, rs730882122, rs1554862218, rs786205900, rs1554863016, rs797045649, rs1554862427, rs797045650, rs1554863246, rs797045651, rs1564713037, rs1057516208, rs1589595589, rs387906641, rs1057524736, rs1589608594, rs730882061, rs1064796738, rs1589600695, rs730882062, rs1554859309, rs730882063 View all (11 more) |
N/A |
| retinal dystrophy |
Retinal dystrophy |
rs1844909478, rs1844615558, rs1844944116 |
N/A |
| Retinitis Pigmentosa |
Syndromic retinitis pigmentosa |
rs1589590737 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Asthma |
Asthma onset (childhood vs adult), Asthma (childhood onset), Asthma |
N/A |
N/A |
GWAS |
| Diabetes |
Type 2 diabetes |
N/A |
N/A |
GWAS |
| Long QT Syndrome |
long qt syndrome |
N/A |
N/A |
ClinVar |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Stimulate
|
37330525 |
| Adenocarcinoma of Lung |
Associate
|
37619315 |
| Aicardi Syndrome |
Associate
|
39187757 |
| Albinism |
Associate
|
39596324 |
| Allan Herndon Dudley syndrome |
Associate
|
36611072 |
| Alzheimer Disease |
Associate
|
23036584 |
| Arthritis Rheumatoid |
Associate
|
32840301, 34079550 |
| Astigmatism |
Associate
|
39187757 |
| Ataxia Telangiectasia |
Associate
|
35782055 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
35052433 |
| Auditory Perceptual Disorders |
Associate
|
35052433 |
| Brain Neoplasms |
Associate
|
38256095 |
| Breast Neoplasms |
Associate
|
32210727, 32346924, 32616754, 33285689, 34675265 |
| Carcinogenesis |
Associate
|
18845538, 21303978, 35403252, 35782055, 36742345 |
| Carcinoma Adenoid Cystic |
Associate
|
31914060 |
| Carcinoma Hepatocellular |
Associate
|
28684886, 28901309, 33111935, 34257537, 34359867, 36120772 |
| Carcinoma Large Cell |
Associate
|
28993508 |
| Carcinoma Non Small Cell Lung |
Associate
|
28101582, 31805030, 34825846 |
| Carcinoma Pancreatic Ductal |
Associate
|
35403252, 35619540 |
| Carcinoma Renal Cell |
Associate
|
30819726, 35979754 |
| Carcinoma Squamous Cell |
Associate
|
28993508 |
| Cataract |
Associate
|
39187757 |
| Cholangiocarcinoma |
Associate
|
36123339 |
| Chorioretinitis |
Associate
|
22653704, 35456519, 36672954 |
| Ciliopathies |
Associate
|
39596324 |
| Colorectal Neoplasms |
Associate
|
34575892, 36611072 |
| COVID 19 |
Associate
|
33839760, 36389792, 36856850 |
| Diabetes Mellitus Type 2 |
Associate
|
19862325, 22506066, 22998375 |
| Diabetic Retinopathy |
Associate
|
28821857, 32290826 |
| Drug Related Side Effects and Adverse Reactions |
Associate
|
32346924 |
| Ependymoma |
Associate
|
20885975 |
| Epilepsy |
Associate
|
24281367 |
| Esotropia |
Associate
|
39187757 |
| Eye Abnormalities |
Associate
|
24281367 |
| Familial Exudative Vitreoretinopathies |
Associate
|
27212378, 30181612, 33137195, 34128965, 34526760, 34860240, 34924743, 35456519, 35876299, 37089697 |
| Fever |
Associate
|
33537819 |
| Genomic Instability |
Associate
|
34575892 |
| Glioblastoma |
Associate
|
28993509, 33491154 |
| Glioma |
Associate
|
33491154, 35774141 |
| Gyrate Atrophy |
Associate
|
39596324 |
| Heart Diseases |
Associate
|
24281367 |
| Hematologic Neoplasms |
Inhibit
|
16627469 |
| Hepatitis B |
Associate
|
33102593, 33376723 |
| HIV Infections |
Associate
|
36389792 |
| Hypertensive Retinopathy |
Associate
|
35456519, 36672954 |
| Hypoxia |
Associate
|
34526760 |
| Insulin Resistance |
Associate
|
22998375 |
| Intellectual Disability |
Associate
|
25934493, 25996076, 27212378, 37089697, 39187757 |
| Laryngeal Neoplasms |
Associate
|
35312942 |
| Learning Disabilities |
Associate
|
24281367 |
| Liver Cirrhosis |
Associate
|
28684886 |
| Lung Neoplasms |
Associate
|
28993508, 32831194 |
| Lupus Erythematosus Systemic |
Associate
|
34079550 |
| Lymphedema |
Associate
|
22284827, 22653704, 25996076, 27212378, 39187757 |
| Lymphoma Non Hodgkin |
Associate
|
36945359 |
| Mesothelioma Malignant |
Associate
|
27279560 |
| Microcephaly |
Associate
|
22284827, 22653704, 24281367, 25934493, 27212378, 30181612, 33137195, 37089697 |
| Microcephaly autosomal dominant |
Associate
|
22284827 |
| Microcephaly with Chorioretinopathy Autosomal Dominant |
Associate
|
22284827, 33137195, 39187757 |
| Mouth Neoplasms |
Associate
|
29115586 |
| Multiple Myeloma |
Associate
|
16627469 |
| Myopia |
Associate
|
29346494 |
| Neoplasm Metastasis |
Associate
|
36611072 |
| Neoplasms |
Associate
|
23034402, 24074379, 24222652, 25277178, 28993508, 30819726, 33491154, 34359867, 34575892, 35164221, 35619540 |
| Neoplasms |
Stimulate
|
36742345 |
| Neuroectodermal Tumors Primitive |
Associate
|
36524840 |
| Neurofibrosarcoma |
Associate
|
37837931 |
| Norrie disease |
Associate
|
35328049, 37089697 |
| Ovarian Neoplasms |
Associate
|
31871312, 31987036, 32693821, 34253236 |
| Pancreatic Neoplasms |
Associate
|
21986572, 35403252 |
| Parkinson Disease |
Associate
|
18845538 |
| Peripheral Nervous System Diseases |
Associate
|
35456519 |
| Peripheral Vascular Diseases |
Associate
|
34128965 |
| Pituitary Neoplasms |
Associate
|
24222652 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
37656243 |
| Prostate Cancer Hereditary 7 |
Associate
|
25277178 |
| Prostatic Neoplasms |
Associate
|
20515952, 25277178 |
| Retinal Cone Dystrophy 1 |
Associate
|
39596324 |
| Retinal Detachment |
Associate
|
34128965, 34526760, 36672954 |
| Retinal Diseases |
Associate
|
25996076, 33137195 |
| Retinal Dystrophies |
Associate
|
39596324 |
| Retinitis |
Associate
|
35456519, 36672954 |
| Retinoblastoma |
Associate
|
33217867 |
| Simpson Golabi Behmel syndrome |
Associate
|
22998375 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
35312942 |
| Stomach Neoplasms |
Associate
|
31683688, 33537819, 35164221, 35421138 |
| Sveinsson Chorioretinal Atrophy |
Associate
|
31077665, 33137195 |
| Syndrome |
Associate
|
25996076 |
| Thyroid Carcinoma Anaplastic |
Associate
|
33025856 |
| Tongue Diseases |
Associate
|
22653704 |
| Triple Negative Breast Neoplasms |
Associate
|
34582664 |
| Urinary Bladder Neoplasms |
Associate
|
22361733, 35669725 |
| Urinary Bladder Neoplasms |
Stimulate
|
33217824 |
| Uterine Cervical Neoplasms |
Associate
|
30816541 |
| Vision Disorders |
Associate
|
36672954 |
| von Hippel Lindau Disease |
Associate
|
30819726 |
| Xeroderma Pigmentosum |
Associate
|
35977011 |
|