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153 phene records found |
[show instead gene records] |
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OMIA ID | Phene | Species Scientific Name | Species Common Name | Gene | Year Key Mutation First Reported | Date Last Modified |
---|---|---|---|---|---|---|
OMIA:001514-9615 | Acral mutilation syndrome | Canis lupus familiaris | dog | GDNF | 2016 | 2024-06-08 |
OMIA:002585-9615 | Acyl-CoA dehydrogenase, medium chain, deficiency of | Canis lupus familiaris | dog | ACADM | 2022 | 2022-10-31 |
OMIA:001208-9615 | Alexander disease | Canis lupus familiaris | dog | GFAP | 2016 | 2024-06-08 |
OMIA:002538-9615 | Alzheimer disease, APP-related | Canis lupus familiaris | dog | 2014 | 2024-01-17 | |
OMIA:000033-9615 | Alzheimer-like disease, generic | Canis lupus familiaris | dog | 2023-04-21 | ||
OMIA:000044-9615 | Anencephaly/Exencephaly | Canis lupus familiaris | dog | 2024-01-09 | ||
OMIA:002922-9615 | Ataxia with isolated vitamin E deficiency | Canis lupus familiaris | dog | TTPA | 2025 | 2025-01-31 |
OMIA:002110-9615 | Ataxia, cerebellar, ATP1B2-related | Canis lupus familiaris | dog | ATP1B2 | 2017 | 2017-07-06 |
OMIA:001913-9615 | Ataxia, cerebellar, juvenile to adolescent, RAB24-related | Canis lupus familiaris | dog | RAB24 | 2014 | 2017-07-07 |
OMIA:002240-9615 | Ataxia, cerebellar, KCNIP4-related | Canis lupus familiaris | dog | KCNIP4 | 2020 | 2023-06-05 |
OMIA:002089-9615 | Ataxia, cerebellar, KCNJ10-related | Canis lupus familiaris | dog | KCNJ10 | 2014 | 2023-11-05 |
OMIA:000078-9615 | Ataxia, cerebellar, neonatal, GRM1-related | Canis lupus familiaris | dog | GRM1 | 2011 | 2017-07-07 |
OMIA:001692-9615 | Ataxia, cerebellar, progressive early-onset, SEL1L-related | Canis lupus familiaris | dog | SEL1L | 2012 | 2017-07-07 |
OMIA:002757-9615 | Ataxia, cerebellar, RALGAPA1-related | Canis lupus familiaris | dog | RALGAPA1 | 2023 | 2023-08-30 |
OMIA:002367-9615 | Ataxia, cerebellar, SELENOP-related | Canis lupus familiaris | dog | SEPP1 | 2021 | 2024-09-11 |
OMIA:002909-9615 | Ataxia, episodic | Canis lupus familiaris | dog | 2024-12-27 | ||
OMIA:002522-9615 | Ataxia, HACE1-related | Canis lupus familiaris | dog | HACE1 | 2022 | 2022-01-29 |
OMIA:001363-9615 | Ataxia, progressive, with head tremor and seizures | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002780-9615 | Ataxia, spastic, SACS-related | Canis lupus familiaris | dog | SACS | 2023 | 2023-10-02 |
OMIA:001820-9615 | Ataxia, spinocerebellar, CAPN1-related | Canis lupus familiaris | dog | CAPN1 | 2013 | 2019-01-26 |
OMIA:002097-9615 | Ataxia, spinocerebellar, ITPR1-related | Canis lupus familiaris | dog | ITPR1 | 2015 | 2017-07-07 |
OMIA:002194-9615 | Ataxia, spinocerebellar, SCN8A-related | Canis lupus familiaris | dog | SCN8A | 2019 | 2019-05-15 |
OMIA:002279-9615 | Ataxia, spinocerebellar, SLC12A6-related | Canis lupus familiaris | dog | SLC12A6 | 2019 | 2020-06-18 |
OMIA:002092-9615 | Ataxia, spinocerebellar, SPTBN2-related | Canis lupus familiaris | dog | SPTBN2 | 2012 | 2020-05-15 |
OMIA:000825-9615 | Axonopathy, progressive | Canis lupus familiaris | dog | 2022-10-20 | ||
OMIA:000170-9615 | Cauda equina syndrome | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000175-9615 | Cerebellar abiotrophy | Canis lupus familiaris | dog | 2024-06-15 | ||
OMIA:002602-9615 | Cerebellar abiotrophy, VMP1-related | Canis lupus familiaris | dog | VMP1 | 2022 | 2023-06-23 |
OMIA:000177-9615 | Cerebellar cortical atrophy | Canis lupus familiaris | dog | 2023-06-23 | ||
OMIA:002034-9615 | Cerebellar cortical degeneration, SNX14-related | Canis lupus familiaris | dog | SNX14 | 2016 | 2023-05-19 |
OMIA:001221-9615 | Cerebellar degeneration | Canis lupus familiaris | dog | 2023-06-23 | ||
OMIA:002294-9615 | Cerebellar degeneration-myositis complex, SLC25A12-related | Canis lupus familiaris | dog | SLC25A12 | 2019 | 2022-08-04 |
OMIA:000179-9615 | Cerebellar hypoplasia | Canis lupus familiaris | dog | 2015-03-05 | ||
OMIA:001947-9615 | Cerebellar hypoplasia, VLDLR-associated | Canis lupus familiaris | dog | VLDLR | 2015 | 2024-09-30 |
OMIA:000174-9615 | Cerebellar Purkinje cell degeneration | Canis lupus familiaris | dog | 2023-06-23 | ||
OMIA:001894-9615 | Cervical vertebral compressive myelopathy | Canis lupus familiaris | dog | 2023-06-07 | ||
OMIA:002916-9615 | Charcot-Marie-Tooth disease, ITPR3-related | Canis lupus familiaris | dog | ITPR3 | 2025 | 2025-01-22 |
OMIA:001861-9615 | Chiari malformation Type I with syringomyelia | Canis lupus familiaris | dog | 2023-05-30 | ||
OMIA:002055-9615 | Degenerative encephalopathy | Canis lupus familiaris | dog | 2016-10-17 | ||
OMIA:000263-9615 | Degenerative myelopathy | Canis lupus familiaris | dog | SOD1, SP110 | 2009 | 2024-10-02 |
OMIA:001501-9615 | Dilute coat color with neurological defects | Canis lupus familiaris | dog | MYO5A | 2021 | 2024-06-14 |
OMIA:000312-9615 | Dysautonomia | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002084-9615 | Dyskinesia, paroxysmal, PIGN-related | Canis lupus familiaris | dog | PIGN | 2016 | 2016-12-01 |
OMIA:002322-9615 | Dyskinesia, paroxysmal, SOD1-related | Canis lupus familiaris | dog | SOD1 | 2021 | 2022-01-09 |
OMIA:002069-9615 | Dystonia, generic | Canis lupus familiaris | dog | 2023-01-12 | ||
OMIA:002663-9615 | Dystonia-ataxia syndrome, paroxysmal, TNR-related | Canis lupus familiaris | dog | TNR | 2023 | 2023-04-08 |
OMIA:000335-9615 | Encephalomyelopathy | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002867-9615 | Encephalopathy, generic | Canis lupus familiaris | dog | 2024-08-18 | ||
OMIA:000344-9615 | Epilepsy | Canis lupus familiaris | dog | 2024-12-02 | ||
OMIA:001592-9615 | Episodic falling, BCAN-related | Canis lupus familiaris | dog | BCAN | 2012 | 2022-05-24 |
OMIA:001466-9615 | Exercise-induced collapse | Canis lupus familiaris | dog | DNM1 | 2008 | 2024-05-26 |
OMIA:000401-9615 | Gangliosidosis, generic | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000402-9615 | Gangliosidosis, GM1 | Canis lupus familiaris | dog | GLB1 | 2000 | 2024-06-15 |
OMIA:001427-9615 | Gangliosidosis, GM2, (AB variant), GM2A-related | Canis lupus familiaris | dog | 2024-06-19 | ||
OMIA:000403-9615 | Gangliosidosis, GM2, generic | Canis lupus familiaris | dog | 2012-07-08 | ||
OMIA:001461-9615 | Gangliosidosis, GM2, type I (B variant) | Canis lupus familiaris | dog | HEXA | 2013 | 2014-02-26 |
OMIA:001462-9615 | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | Canis lupus familiaris | dog | HEXB | 2012 | 2022-05-24 |
OMIA:000427-9615 | Granule cell type cerebellar hypoplasia | Canis lupus familiaris | dog | 2022-10-14 | ||
OMIA:002062-9615 | Guillain-Barr-like polyradiculoneuropathy | Canis lupus familiaris | dog | 2016-10-28 | ||
OMIA:000453-9615 | Hepatic encephalopathy | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001197-9615 | Horner syndrome | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000486-9615 | Hydranencephaly | Canis lupus familiaris | dog | 2013-05-22 | ||
OMIA:000487-9615 | Hydrocephalus | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000489-9615 | Hydrocephalus, internal | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001264-9615 | Hydromelia | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001594-9615 | Hyperekplexia (Startle disease), SLC6A5-related | Canis lupus familiaris | dog | SLC6A5 | 2011 | 2023-05-07 |
OMIA:000689-9615 | Hyperekplexia, GLRA1-related | Canis lupus familiaris | dog | GLRA1 | 2023 | 2023-05-27 |
OMIA:000526-9615 | Hypomyelination of the central nervous system | Canis lupus familiaris | dog | FNIP2 | 2014 | 2024-06-18 |
OMIA:000527-9615 | Hypomyelinogenesis, congenital | Canis lupus familiaris | dog | 2014-09-17 | ||
OMIA:000535-9615 | Hypothalamic dysplasia | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001371-9615 | L-2-hydroxyglutaricacidemia | Canis lupus familiaris | dog | L2HGDH | 2007 | 2024-09-11 |
OMIA:002301-9615 | Laryngeal paralysis and polyneuropathy, CNTNAP1-related | Canis lupus familiaris | dog | CNTNAP1 | 2020 | 2023-08-18 |
OMIA:002840-9615 | Leigh syndrome, NDUFS7-related | Canis lupus familiaris | dog | NDUFS7 | 2024 | 2024-06-18 |
OMIA:002214-9615 | Leukodystrophy, cavitating | Canis lupus familiaris | dog | 2019-10-22 | ||
OMIA:002684-9615 | Leukodystrophy, CYTB-related | Canis lupus familiaris | dog | CYTB | 2006 | 2023-05-03 |
OMIA:001130-9615 | Leukodystrophy, generic | Canis lupus familiaris | dog | 2023-05-03 | ||
OMIA:002321-9615 | Leukodystrophy, hypomyelinating | Canis lupus familiaris | dog | 2021-04-08 | ||
OMIA:002215-9615 | Leukodystrophy, TSEN54-related | Canis lupus familiaris | dog | TSEN54 | 2019 | 2019-10-23 |
OMIA:001788-9615 | Leukoencephalomyelopathy, NAPEPLD-related | Canis lupus familiaris | dog | NAPEPLD | 2018 | 2023-06-09 |
OMIA:001867-9615 | Lissencephaly and cerebellar hypoplasia, RELN-related | Canis lupus familiaris | dog | RELN | 2023 | 2024-10-14 |
OMIA:002771-9615 | Lissencephaly, generic | Canis lupus familiaris | dog | 2024-06-08 | ||
OMIA:001470-9615 | Meningoencephalitis | Canis lupus familiaris | dog | 2024-12-17 | ||
OMIA:002551-9615 | Mitochondrial fission encephalopathy | Canis lupus familiaris | dog | MFF | 2022 | 2024-05-07 |
OMIA:001165-9615 | Motor neuron disease | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000662-9615 | Motor neuron disease, lower | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001468-9615 | Multiple system degeneration, SERAC1-related | Canis lupus familiaris | dog | SERAC1 | 2013 | 2023-06-23 |
OMIA:002839-9615 | Muscle hypertrophy, dysphagia, and gait abnormalities | Canis lupus familiaris | dog | 2024-04-08 | ||
OMIA:000684-9615 | Myasthenia | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002072-9615 | Myasthenic syndrome, congenital, CHAT-related | Canis lupus familiaris | dog | CHAT | 2007 | 2020-05-15 |
OMIA:000685-9615 | Myasthenic syndrome, congenital, CHRNE-related | Canis lupus familiaris | dog | CHRNE | 2015 | 2024-09-06 |
OMIA:000827-9615 | Myeloencephalopathy, progressive degenerative, PNPLA8-related | Canis lupus familiaris | dog | PNPLA8 | 2022 | 2023-06-23 |
OMIA:001120-9615 | Myelopathy, fibrocartilaginous embolic | Canis lupus familiaris | dog | 2023-11-05 | ||
OMIA:002857-9615 | Myelopathy, hereditary | Canis lupus familiaris | dog | 2024-05-25 | ||
OMIA:001097-9615 | Necrotising encephalopathy, subacute, of Leigh | Canis lupus familiaris | dog | SLC19A3 | 2013 | 2024-06-15 |
OMIA:000706-9615 | Necrotising myelopathy, IBA57-related | Canis lupus familiaris | dog | IBA57 | 2023 | 2024-05-07 |
OMIA:001471-9615 | Neonatal encephalopathy with seizures, ATF2-related | Canis lupus familiaris | dog | ATF2 | 2008 | 2022-05-22 |
OMIA:000715-9615 | Neuroaxonal dystrophy, generic | Canis lupus familiaris | dog | 2018-06-29 | ||
OMIA:002153-9615 | Neuroaxonal dystrophy, MFN2-related | Canis lupus familiaris | dog | MFN2 | 2011 | 2018-06-29 |
OMIA:002105-9615 | Neuroaxonal dystrophy, PLA2G6-related | Canis lupus familiaris | dog | PLA2G6 | 2017 | 2023-06-13 |
OMIA:002876-9615 | Neuroaxonal dystrophy, RNF170-related | Canis lupus familiaris | dog | RNF170 | 2024 | 2024-08-28 |
OMIA:001975-9615 | Neuroaxonal dystrophy, TECPR2-related | Canis lupus familiaris | dog | TECPR2 | 2015 | 2015-12-30 |
OMIA:002152-9615 | Neuroaxonal dystrophy, VPS11-related | Canis lupus familiaris | dog | VPS11 | 2018 | 2022-05-22 |
OMIA:001954-9615 | Neurodegenerative vacuolar storage disease | Canis lupus familiaris | dog | ATG4D | 2015 | 2023-06-23 |
OMIA:000719-9615 | Neurogenic muscular atrophy | Canis lupus familiaris | dog | 2022-10-20 | ||
OMIA:000720-9615 | Neurological syndrome | Canis lupus familiaris | dog | 2013-07-03 | ||
OMIA:001164-9615 | Neuronal abiotrophy | Canis lupus familiaris | dog | 2022-10-23 | ||
OMIA:001504-9615 | Neuronal ceroid lipofuscinosis, 1 | Canis lupus familiaris | dog | PPT1 | 2010 | 2018-07-12 |
OMIA:001505-9615 | Neuronal ceroid lipofuscinosis, 10 | Canis lupus familiaris | dog | CTSD | 2006 | 2013-05-28 |
OMIA:001552-9615 | Neuronal ceroid lipofuscinosis, 12 | Canis lupus familiaris | dog | ATP13A2 | 2011 | 2022-02-04 |
OMIA:001472-9615 | Neuronal ceroid lipofuscinosis, 2 | Canis lupus familiaris | dog | TPP1 | 2006 | 2023-01-23 |
OMIA:001482-9615 | Neuronal ceroid lipofuscinosis, 5 | Canis lupus familiaris | dog | CLN5 | 2005 | 2023-11-13 |
OMIA:001443-9615 | Neuronal ceroid lipofuscinosis, 6 | Canis lupus familiaris | dog | CLN6 | 2011 | 2024-07-27 |
OMIA:001962-9615 | Neuronal ceroid lipofuscinosis, 7 | Canis lupus familiaris | dog | MFSD8 | 2015 | 2024-12-19 |
OMIA:001506-9615 | Neuronal ceroid lipofuscinosis, 8 | Canis lupus familiaris | dog | CLN8 | 2005 | 2023-06-11 |
OMIA:000181-9615 | Neuronal Ceroid Lipofuscinosis, generic | Canis lupus familiaris | dog | 2013-06-18 | ||
OMIA:001303-9615 | Neuronal vacuolar disorder | Canis lupus familiaris | dog | 2022-10-23 | ||
OMIA:001282-9615 | Neuronopathy, progressive | Canis lupus familiaris | dog | 2022-10-23 | ||
OMIA:001207-9615 | Neuropathy, giant axonal | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002616-9615 | Neuropathy, hereditary sensory and autonomic, SCN9A-related | Canis lupus familiaris | dog | SCN9A | 2023 | 2023-01-25 |
OMIA:000518-9615 | Neuropathy, hypertrophic | Canis lupus familiaris | dog | 2022-10-14 | ||
OMIA:001150-9615 | Neuropathy, peripheral | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001467-9615 | Neuropathy, sensory ataxic | Canis lupus familiaris | dog | MTTY | 2009 | 2023-01-16 |
OMIA:002032-9615 | Neuropathy, sensory, RETREG1-related | Canis lupus familiaris | dog | FAM134B | 2016 | 2024-10-13 |
OMIA:000725-9615 | Niemann-Pick disease, type C1 | Canis lupus familiaris | dog | 2011-03-17 | ||
OMIA:001116-9615 | Optic chiasm, absence of | Canis lupus familiaris | dog | 2022-10-22 | ||
OMIA:000011-9615 | Paresis, posterior | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002488-9615 | Parkinson disease, PARK7-related | Canis lupus familiaris | dog | 2023-12-18 | ||
OMIA:002728-9615 | PCYT2 deficiency | Canis lupus familiaris | dog | PCYT2 | 2024 | 2024-02-01 |
OMIA:001280-9615 | Polioencephalomyelopathy | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002814-9615 | Polioencephalopathy, MECR-related | Canis lupus familiaris | dog | MECR | 2023 | 2024-01-17 |
OMIA:001098-9615 | Polymicrogyria and asymmetrical ventricular dilation | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:002120-9615 | Polyneuropathy, NDRG1-related | Canis lupus familiaris | dog | NDRG1 | 2010 | 2022-05-23 |
OMIA:001917-9615 | Polyneuropathy, ARHGEF10-related | Canis lupus familiaris | dog | ARHGEF10 | 2014 | 2020-12-11 |
OMIA:000813-9615 | Polyneuropathy, distal sensorimotor | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001292-9615 | Polyneuropathy, generic | Canis lupus familiaris | dog | 2024-02-09 | ||
OMIA:002119-9615 | Polyneuropathy, GJA9-related | Canis lupus familiaris | dog | GJA9 | 2017 | 2021-07-11 |
OMIA:002739-9615 | Polyneuropathy, hypomyelinating, MPZ-related | Canis lupus familiaris | dog | MPZ | 2023 | 2023-07-22 |
OMIA:002727-9615 | Polyneuropathy, hypomyelinating, MTMR2-related | Canis lupus familiaris | dog | MTMR2 | 2023 | 2024-09-02 |
OMIA:002740-9615 | Polyneuropathy, hypomyelinating, SH3TC2-related | Canis lupus familiaris | dog | SH3TC2 | 2023 | 2023-07-22 |
OMIA:001970-9615 | Polyneuropathy, RAB3GAP1-related | Canis lupus familiaris | dog | RAB3GAP1 | 2015 | 2020-12-11 |
OMIA:002284-9615 | Polyneuropathy, SBF2-related | Canis lupus familiaris | dog | SBF2 | 2019 | 2020-12-11 |
OMIA:002838-9615 | Pontocerebellar hypoplasia, AMPD2-related | Canis lupus familiaris | dog | AMPD2 | 2024 | 2024-04-08 |
OMIA:000938-9615 | Spinal dysraphism | Canis lupus familiaris | dog | NKX2-8 | 2013 | 2024-06-13 |
OMIA:001923-9615 | Spinal intradural arachnoid cyst | Canis lupus familiaris | dog | 2024-04-06 | ||
OMIA:000939-9615 | Spinal muscular atrophy | Canis lupus familiaris | dog | 2020-05-15 | ||
OMIA:000944-9615 | Spongiform encephalopathy, susceptibility/resistance to | Canis lupus familiaris | dog | 2020-05-15 | ||
OMIA:002842-9615 | Steroid-responsive meningitis-arteritis, susceptibility to | Canis lupus familiaris | dog | 2024-10-10 | ||
OMIA:002250-9615 | Succinic semialdehyde dehydrogenase deficiency | Canis lupus familiaris | dog | ALDH5A1 | 2020 | 2020-09-14 |
OMIA:000965-9615 | Syringomyelia | Canis lupus familiaris | dog | 2024-05-17 | ||
OMIA:002641-9615 | Thoracolumbar myelopathy | Canis lupus familiaris | dog | 2023-02-28 | ||
OMIA:001016-9615 | Tremor | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:001017-9615 | Tremor syndrome with central axonopathy | Canis lupus familiaris | dog | 2005-09-06 | ||
OMIA:000770-9615 | Tremor, X-linked | Canis lupus familiaris | dog | PLP1 | 1990 | 2024-06-14 |