|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| abortive cerebellar ataxia |
Abortive cerebellar ataxia |
rs80356530, rs879255593, rs879255595 |
N/A |
| Cardiomyopathic Mitochondrial DNA Depletion Syndrome |
mitochondrial dna depletion syndrome 14 (cardioencephalomyopathic type) |
rs398124303, rs869312995 |
N/A |
| Optic Atrophy |
optic atrophy |
rs398124299, rs80356529, rs761460379, rs727504060, rs1560327427, rs879255560, rs80356528, rs794727804, rs1064797303, rs1734162973, rs1716524583, rs863224127, rs104893753, rs1553784985, rs398124298, rs863224131, rs761743852, rs863224134, rs1553785338, rs863224906 View all (5 more) |
N/A |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy |
rs1577162868, rs879255592, rs398124303, rs879255513, rs80356530, rs387906899, rs121908375, rs398124298, rs794729196, rs121908376, rs387906900, rs80356529, rs387906901 |
N/A |
| retinal dystrophy |
Retinal dystrophy |
rs761460379, rs80356530, rs879255593, rs1732788163, rs121908375 |
N/A |
| Centronuclear Myopathy |
centronuclear myopathy |
rs80356529 |
N/A |
| Fatal Mitochondrial Disease |
Mitochondrial disease |
rs80356529, rs80356530, rs387906899, rs1553877864, rs398124298 |
N/A |
| Stargardt Disease |
stargardt disease |
rs794727804 |
N/A |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
36573240 |
| adult multisystem inflammatory disease COVID 19 related |
Associate
|
18158317 |
| Altitude Sickness |
Associate
|
29357502 |
| Aortic Aneurysm Familial Abdominal 1 |
Associate
|
30252181 |
| Ataxia |
Associate
|
18158317, 31673222 |
| Atrophy |
Associate
|
12488262 |
| Auditory neuropathy |
Associate
|
25564500, 31673222, 38456936 |
| Autism Spectrum Disorder |
Associate
|
23333625 |
| Barth Syndrome |
Associate
|
35676289 |
| Behr syndrome |
Associate
|
27879217, 32883255 |
| Bipolar Disorder |
Associate
|
28463235 |
| Blindness |
Associate
|
14970223, 36075118 |
| Carcinoma Hepatocellular |
Associate
|
33915505 |
| Carcinoma Non Small Cell Lung |
Associate
|
36573240 |
| Carcinoma Squamous Cell |
Associate
|
19607727 |
| Cardiomyopathy Hypertrophic |
Associate
|
26561570 |
| Charcot Marie Tooth disease Type 2A |
Associate
|
22433900 |
| Costeff optic atrophy syndrome |
Associate
|
24970096, 31673222, 34006618 |
| Cytochrome c Oxidase Deficiency |
Associate
|
20157015, 20484224 |
| Deaf Blind Disorders |
Associate
|
18195150 |
| Deafness |
Associate
|
19733158, 21623591, 36075118 |
| Deafness Autosomal Dominant 1 |
Associate
|
16648378 |
| Death Sudden |
Associate
|
37995443 |
| Dementia |
Associate
|
25820230 |
| Diabetes Gestational |
Associate
|
32144130 |
| Diabetic Cardiomyopathies |
Associate
|
34418601 |
| Disease |
Associate
|
29604226 |
| Epilepsy |
Associate
|
37995443 |
| Eye Diseases |
Associate
|
29604226 |
| Ganglion Cysts |
Associate
|
23138851 |
| Genetic Diseases Inborn |
Associate
|
14970223, 21036400, 29952689 |
| Glaucoma |
Associate
|
19581274 |
| Glaucoma Open Angle |
Associate
|
16785854, 21552501 |
| Glioblastoma |
Associate
|
36838582 |
| Glioma |
Associate
|
30403311 |
| Hearing Loss |
Associate
|
16648378, 25564500, 27860320, 29952689, 34573359, 36075118 |
| Hearing Loss Sensorineural |
Associate
|
18158317 |
| Heredodegenerative Disorders Nervous System |
Associate
|
29604226 |
| Huntington Disease |
Associate
|
21257639 |
| Hyperglycemia |
Associate
|
34418601 |
| Hypoxia |
Associate
|
29357502, 34080026 |
| Hypoxia Brain |
Associate
|
29357502 |
| Kallmann Syndrome |
Associate
|
18158317 |
| Kearns Sayre Syndrome |
Associate
|
27858935 |
| Konigsmark Knox Hussels syndrome |
Associate
|
27858935 |
| Leukemia |
Associate
|
36739349 |
| Low Tension Glaucoma |
Associate
|
12543739, 14551537, 16785854, 19581274 |
| Lung Neoplasms |
Associate
|
36573240, 36806050, 36809297 |
| Macular Edema |
Associate
|
24369534 |
| Melanoma |
Associate
|
40141318 |
| Mitochondrial cytopathy |
Associate
|
18158317 |
| Mitochondrial Diseases |
Associate
|
14970223, 19664747, 20157015, 22800932, 25112877, 27495975, 28378518, 28494813, 28630277, 29081403, 29604226, 30395865, 31875567, 33251885, 33562813, 34418601, 35534703, 35652445, 36739349, 37612504, 38101398, 38183352 View all (7 more) |
| Mitochondrial Diseases |
Inhibit
|
23138851 |
| Mitochondrial Encephalomyopathies |
Associate
|
26561570 |
| Mitochondrial Myopathies |
Associate
|
18158317, 30395865 |
| Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport |
Associate
|
19325939, 31875567 |
| Multiple Sclerosis |
Associate
|
20157015 |
| Multiple System Atrophy |
Associate
|
18195150, 23387428, 25820230, 28378518 |
| Muscular Diseases |
Associate
|
36075118 |
| Myopathy with Giant Abnormal Mitochondria |
Associate
|
12707284 |
| Necrosis |
Associate
|
30403311 |
| Neoplasms |
Associate
|
25112877, 30403311, 30859632, 36573240, 36806050, 36809297, 37643767, 37980164 |
| Nerve Degeneration |
Associate
|
14970223, 20484224, 23138851, 29604226, 38101398 |
| Nervous System Diseases |
Associate
|
20157015, 27860320 |
| Neurodegenerative Diseases |
Associate
|
25820230, 28494813, 30252181, 30859632, 32600459 |
| Neurologic Manifestations |
Associate
|
23387428, 31500643, 34014035 |
| Nevus Pigmented |
Associate
|
31037127 |
| Ophthalmoplegia Chronic Progressive External |
Associate
|
18158317, 18195150, 24086434, 25820230 |
| Optic Atrophies Hereditary |
Associate
|
19319978, 23401657, 27974645, 28081242, 33251885, 34573359 |
| Optic Atrophy |
Associate
|
12543739, 12707284, 14552656, 14970223, 16648378, 16735988, 18158317, 19319978, 19325939, 19619285, 19772191, 20157015, 20417570, 21036400, 21378995, 21552501, 22197506, 23387428, 23401657, 24970096, 25564500, 26561570, 26738566, 27265430, 27346197, 27860320, 27879217, 27974645, 28378518, 28494813, 28848318, 29034899, 29604226, 30252181, 30395865, 31500643, 31765440, 32025183, 32379273, 32600459, 32855858, 33251885, 34043876, 34242285, 34559197, 35534703, 35883160, 9039986 View all (33 more) |
| Optic atrophy 1 and deafness |
Associate
|
29034899, 29340645 |
| Optic Atrophy 7 |
Associate
|
36075118 |
| Optic Atrophy Autosomal Dominant |
Associate
|
12036970, 12488262, 15948788, 16617242, 16648378, 18496845, 18783614, 19112530, 19319978, 19325939, 19581274, 19619285, 19900585, 20157369, 20417570, 20436456, 20484224, 21036400, 21378995, 21457585, 21731710, 21980395, 22197506, 22433900, 22800932, 22857269, 23138851, 23401657, 24024178, 24612963, 24883014, 25186535, 26385429, 26738566, 26936288, 27265430, 27858935, 27879217, 28081242, 28125838, 28245802, 28378518, 28494813, 28720802, 28841713, 28926202, 29091347, 29340645, 29952689, 31500643, 31673222, 32219868, 32600459, 32855858, 33243194, 33752025, 34014035, 34242285, 34250739, 34548540, 34559197, 35152176, 35273349, 35328032, 35534703, 35652445, 35883160, 36075118, 36927155, 38101398, 38193759, 38278202, 39363032, 40492996, 40650142, 9429135 View all (61 more) |
| Optic Atrophy Hereditary Leber |
Associate
|
19319978, 19619285, 21036400, 21552501, 28081242, 32855858, 34573359 |
| Optic Nerve Diseases |
Associate
|
18158317, 18360822, 19319978, 19325939, 19581274, 19900585, 21457585, 21552501, 25820230, 27265430, 28848318, 31500643, 32219868, 32883255 |
| Optic Nerve Hypoplasia |
Associate
|
20157015, 32040484, 36306327 |
| Optic Nerve Hypoplasia Bilateral |
Associate
|
18360822, 28848318 |
| Paraparesis Spastic |
Associate
|
21828197, 35534703 |
| Parkinson Disease |
Associate
|
31875567, 36611869 |
| Parkinson Disease Mitochondrial |
Associate
|
29604226 |
| Parkinson Disease Secondary |
Associate
|
25820230, 29604226, 30252181 |
| Peripheral Nervous System Diseases |
Associate
|
21036400 |
| Polyneuropathies |
Associate
|
18158317 |
| Pre Eclampsia |
Stimulate
|
27573305 |
| Primary visual agnosia |
Associate
|
21036400 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
38110986 |
| Renal Insufficiency |
Associate
|
19112530, 21036400, 21828197 |
| Reperfusion Injury |
Associate
|
35047108 |
| Reperfusion Injury |
Inhibit
|
37253410 |
| Retinal Diseases |
Associate
|
32423767 |
| Retinitis |
Associate
|
21378995, 28125838, 38101398 |
| Scotoma |
Associate
|
28848318 |
| Sjogren's Syndrome |
Associate
|
35359935 |
| Sleep Deprivation |
Associate
|
20436456, 22433900, 22800932, 23138851, 24176854, 25112877, 27495975, 27974645, 29604226, 30859632, 32092105, 32600459, 34014035 |
| Small Cell Lung Carcinoma |
Stimulate
|
36809297 |
| Smooth Muscle Tumor |
Associate
|
36675156 |
| Spastic Ataxia |
Associate
|
32600459 |
| Spastic Paraplegia Hereditary |
Associate
|
27879217 |
| Speech Disorders |
Associate
|
25564500 |
| Spinocerebellar ataxia 28 |
Associate
|
32600459 |
| Sudden Infant Death |
Associate
|
37995443 |
| Tooth Loss |
Associate
|
35652445 |
| Triple Negative Breast Neoplasms |
Associate
|
36813854 |
| Urinary Incontinence |
Associate
|
35534703 |
| Vestibular Diseases |
Associate
|
31673222 |
| Visceral myopathy familial external ophthalmoplegia |
Associate
|
19772189 |
| Vision Disorders |
Associate
|
21731710, 28720802, 32883255 |
| Wounds and Injuries |
Associate
|
23138851 |
|