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210 phene records found

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OMIA ID Phene Species Scientific Name Species Common Name Gene Year Key Mutation First Reported Date Last Modified
OMIA:002571-9823 5-Hydroxytryptamine deficiency Sus scrofa pig 2022-09-12
OMIA:002178-9823 Abortion, BBS9 and BMPER-related Sus scrofa pig BMPER, BBS9 2018 2021-08-24
OMIA:002183-9823 Abortion, PNKP-related Sus scrofa pig PNKP 2019 2021-08-24
OMIA:002181-9823 Abortion, POLR1B-related Sus scrofa pig POLR1B 2019 2021-08-24
OMIA:002180-9823 Abortion, TADA2A-related Sus scrofa pig TADA2A 2019 2021-08-24
OMIA:002182-9823 Abortion, URB1-related Sus scrofa pig URB1 2019 2021-08-24
OMIA:001926-9823 Achondrogenesis, type II Sus scrofa pig 2020-06-02
OMIA:000022-9823 Agnathia Sus scrofa pig 2011-10-04
OMIA:001702-9823 Alopecia areata Sus scrofa pig 2013-05-15
OMIA:002538-9823 Alzheimer disease, APP-related Sus scrofa pig APP 2009 2022-03-19
OMIA:002493-9823 Alzheimer disease, PSEN1-related Sus scrofa pig PSEN1 2013 2022-03-19
OMIA:002575-9823 Alzheimer, SORL1-related Sus scrofa pig 2022-09-17
OMIA:000033-9823 Alzheimer-like disease, generic Sus scrofa pig 2023-10-16
OMIA:002491-9823 Amyotrophic lateral sclerosis, SOD1-related Sus scrofa pig 2022-01-09
OMIA:002492-9823 Amyotrophic lateral sclerosis, TARDBP-related Sus scrofa pig 2023-09-22
OMIA:000991-9823 Androgen insensitivity syndrome (AIS) Sus scrofa pig 2005-09-06
OMIA:002614-9823 Angelman syndrome Sus scrofa pig 2023-01-19
OMIA:002283-9823 Arthrogryposis multiplex congenita, KIF21A-related Sus scrofa pig KIF21A 2020 2020-07-24
OMIA:002044-9823 Ataxia telangiectasia Sus scrofa pig 2016-10-17
OMIA:000080-9823 Atherosclerosis Sus scrofa pig 2005-09-06
OMIA:002430-9823 Beta-2-microglobulin deficiency Sus scrofa pig 2021-09-18
OMIA:001089-9823 Blood group system ABO Sus scrofa pig GGTA1 2001 2023-01-19
OMIA:001551-9823 Brachycephaly Sus scrofa pig 2021-08-22
OMIA:001183-9823 Bullous pemphigoid Sus scrofa pig 2023-03-01
OMIA:002054-9823 Cancer, RUNX-related Sus scrofa pig 2021-12-26
OMIA:001990-9823 Cancer, TP53-related Sus scrofa pig 2023-01-18
OMIA:000162-9823 Cardiomyopathy, dilated Sus scrofa pig 2005-09-06
OMIA:000515-9823 Cardiomyopathy, hypertrophic Sus scrofa pig 2018-03-24
OMIA:002212-9823 Cardiomyopathy, hypertrophic, MYH7-related Sus scrofa pig 2021-12-26
OMIA:002211-9823 Cardiomyopathy, hypertrophic, SGCD-related Sus scrofa pig 2021-12-26
OMIA:002477-9823 Cardiovascular disease risk, ASGR1-related Sus scrofa pig ASGR1 2021 2021-11-16
OMIA:000179-9823 Cerebellar hypoplasia Sus scrofa pig 2005-09-06
OMIA:000573-9823 Ciliary dyskinesia, primary, generic Sus scrofa pig 2005-09-06
OMIA:000197-9823 Cleft palate Sus scrofa pig 2019-05-15
OMIA:002410-9823 CMAH enzyme deficiency Sus scrofa pig 2023-01-19
OMIA:000201-9823 Coat colour, agouti Sus scrofa pig 2011-09-12
OMIA:001479-9823 Coat colour, black and tan Sus scrofa pig 2009-12-01
OMIA:001249-9823 Coat colour, brown, TYRP1-related Sus scrofa pig TYRP1 2011 2022-11-23
OMIA:000209-9823 Coat colour, dominant white Sus scrofa pig KIT 1996 2022-11-23
OMIA:001199-9823 Coat colour, extension Sus scrofa pig MC1R 1998 2023-01-16
OMIA:000202-9823 Coat colour, oculocutaneous albinism type I (OCA1), TYR-related Sus scrofa pig 2021-06-25
OMIA:001743-9823 Coat colour, patch Sus scrofa pig KIT 1998 2012-11-25
OMIA:001216-9823 Coat colour, roan Sus scrofa pig KIT 2011 2011-12-09
OMIA:001469-9823 Coat colour, white belt Sus scrofa pig 2018-09-15
OMIA:001745-9823 Coat colour, white belt, KIT-related Sus scrofa pig KIT 2012 2021-02-24
OMIA:002464-9823 Cryopyrin-associated periodic syndrome, NLRP3-related Sus scrofa pig NLRP3 2020 2021-12-26
OMIA:000243-9823 Cryptorchidism Sus scrofa pig 2021-09-16
OMIA:001794-9823 Cystic fibrosis Sus scrofa pig 2021-08-28
OMIA:002148-9823 Deafness, bilateral, and vestibular dysfunction, MYO7A-related Sus scrofa pig MYO7A 2021 2021-05-26
OMIA:002439-9823 Deafness, GJB2-related Sus scrofa pig 2021-09-27
OMIA:002360-9823 Deafness, OSBPL2-related Sus scrofa pig 2021-06-25
OMIA:000278-9823 Diabetes insipidus Sus scrofa pig 2016-10-17
OMIA:000279-9823 Diabetes mellitus Sus scrofa pig 2023-07-20
OMIA:000284-9823 Diabetes mellitus, type II Sus scrofa pig 2023-05-04
OMIA:001323-9823 Dwarfism, GHR-related Sus scrofa pig 2023-04-28
OMIA:001718-9823 Dwarfism, Schmid metaphyseal chondrodysplasia Sus scrofa pig COL10A1 2000 2012-09-17
OMIA:001579-9823 Ear size Sus scrofa pig PPARD, WIF1 2011 2020-05-21
OMIA:000319-9823 Ears, folded (drop vs prick) Sus scrofa pig MSRB3 2018 2020-04-19
OMIA:002157-9823 Ectodermal dysplasia-9 Sus scrofa pig 2023-10-16
OMIA:000348-9823 Epitheliogenesis imperfecta Sus scrofa pig 2023-11-23
OMIA:000354-9823 Exostoses, multiple Sus scrofa pig 2013-07-17
OMIA:001916-9823 Familial adenomatous polyposis Sus scrofa pig 2021-12-26
OMIA:001090-9823 Fatty metamorphosis of viscera Sus scrofa pig 2011-10-18
OMIA:002306-9823 Fecundity, BMP15-related Sus scrofa pig BMP15 2021 2021-01-10
OMIA:000392-9823 Fragile site Sus scrofa pig 2005-09-06
OMIA:001461-9823 Gangliosidosis, GM2, type I (B variant) Sus scrofa pig HEXA 2021 2021-06-16
OMIA:002544-9823 GAPO syndrome Sus scrofa pig 2022 2022-09-11
OMIA:000405-9823 Gaucher disease, generic Sus scrofa pig 2017-10-17
OMIA:002012-9823 Glioma susceptibility Sus scrofa pig 2021-11-08
OMIA:000424-9823 Goitre, familial Sus scrofa pig 2005-09-06
OMIA:001813-9823 Haemangiosarcoma Sus scrofa pig 2013-05-22
OMIA:000437-9823 Haemophilia A Sus scrofa pig 2021-06-25
OMIA:000438-9823 Haemophilia B Sus scrofa pig 2021-12-26
OMIA:002376-9823 Heart defect, congenital, SAP130-related Sus scrofa pig 2021-08-11
OMIA:000459-9823 Hernia, diaphragmatic Sus scrofa pig 2005-09-06
OMIA:000462-9823 Hernia, inguinal Sus scrofa pig 2005-09-06
OMIA:000468-9823 Heterochromia irides/iridis Sus scrofa pig 2005-09-06
OMIA:000473-9823 Hip dysplasia Sus scrofa pig 2005-09-06
OMIA:000620-9823 Histiocytosis, malignant Sus scrofa pig 2005-09-06
OMIA:000478-9823 Holoprosencephaly Sus scrofa pig 2005-09-06
OMIA:000485-9823 Huntington disease Sus scrofa pig 2023-02-18
OMIA:000487-9823 Hydrocephalus Sus scrofa pig 2005-09-06
OMIA:000493-9823 Hydrops foetalis Sus scrofa pig 2012-04-12
OMIA:002369-9823 Hygroma, cystic Sus scrofa pig 2021-07-28
OMIA:000499-9823 Hypercholesterolaemia Sus scrofa pig LDLR 1998 2021-12-25
OMIA:002329-9823 Hypercholesterolaemia, PCSK9-related Sus scrofa pig 2021-04-20
OMIA:001160-9823 Hyperlipidaemia Sus scrofa pig 2005-09-06
OMIA:002063-9823 Hyperlipidaemia/atherosclerosis, APOE-related Sus scrofa pig APOE 2017 2021-11-03
OMIA:000507-9823 Hyperostosis Sus scrofa pig 2005-09-06
OMIA:002217-9823 Hyperphagia leading to hepatic steatosis Sus scrofa pig MC4R 2020 2021-09-03
OMIA:002619-9823 Hypogonadotropic hypogonadism, KISS1-related Sus scrofa pig KISS1 2023 2023-02-01
OMIA:002287-9823 Hypopigmentation and deafness Sus scrofa pig KIT 2020 2020-10-21
OMIA:002210-9823 Hypothyroidism, congenital, DUOX2-related Sus scrofa pig DUOX2 2019 2021-02-23
OMIA:001278-9823 Hypotrichosis, dominant Sus scrofa pig 2005-09-06
OMIA:000540-9823 Hypotrichosis, generic Sus scrofa pig 2005-09-06
OMIA:002229-9823 Hypotrichosis, HR-related Sus scrofa pig 2021-08-30
OMIA:001458-9823 Hypotrichosis, juvenile with age-dependent emphysema Sus scrofa pig 2013-09-20
OMIA:001279-9823 Hypotrichosis, recessive Sus scrofa pig 2012-02-14
OMIA:002238-9823 Ichthyosis, ABCA12-related Sus scrofa pig ABCA12 2019 2021-11-04
OMIA:000562-9823 Infertility Sus scrofa pig 2005-09-06
OMIA:001687-9823 Inflammatory bowel disease Sus scrofa pig 2023-02-28
OMIA:002496-9823 Intramuscular fat, PPARG-related Sus scrofa pig 2022-01-11
OMIA:000576-9823 Knobbed acrosome Sus scrofa pig BOLL 2020 2020-10-26
OMIA:002613-9823 Lactoferrin concentration, increased Sus scrofa pig 2023-01-19
OMIA:002161-9823 Leg weakness, MSTN-related Sus scrofa pig MSTN 2019 2019-02-01
OMIA:002147-9823 Leigh syndrome, SURF1-related Sus scrofa pig 2021-12-26
OMIA:001513-9823 Leukaemia, chronic myelogenous Sus scrofa pig 2021-02-23
OMIA:000621-9823 Malignant hyperthermia Sus scrofa pig RYR1 1991 2021-04-09
OMIA:000628-9823 Marfan syndrome Sus scrofa pig FBN1 2016 2021-12-26
OMIA:001085-9823 Meat quality (Rendement Napole) Sus scrofa pig PRKAG3 2000 2021-08-14
OMIA:000629-9823 Megacolon Sus scrofa pig 2005-09-06
OMIA:000633-9823 Melanoma, Sinclair swine cutaneous malignant Sus scrofa pig 2009-12-01
OMIA:000636-9823 Membranoproliferative glomerulonephritis type II Sus scrofa pig CFH 2002 2012-09-21
OMIA:001952-9823 Microtia Sus scrofa pig HOXA1 2015 2015-04-16
OMIA:002247-9823 Microvillus inclusion disease Sus scrofa pig 2020-03-02
OMIA:001342-9823 Mucopolysaccharidosis IIIB Sus scrofa pig 2019-03-30
OMIA:002467-9823 Muscle growth, IGF2-related Sus scrofa pig 2022-01-11
OMIA:002468-9823 Muscle growth, ZBED6-related Sus scrofa pig ZBED6 2021 2021-11-03
OMIA:002494-9823 Muscle hypertrophy, FBXO40-related Sus scrofa pig 2022-01-11
OMIA:001888-9823 Muscular dystrophy, Becker type Sus scrofa pig DMD 2022 2022-05-20
OMIA:001081-9823 Muscular dystrophy, Duchenne type Sus scrofa pig DMD 2013 2023-08-18
OMIA:002611-9823 Muscular dystrophy, limb-girdle, CAPN3-related Sus scrofa pig 2023-01-16
OMIA:000683-9823 Muscular hypertrophy (double muscling) Sus scrofa pig MSTN 2008 2022-11-25
OMIA:002666-9823 Muscular hypertrophy, TRIM63-related Sus scrofa pig TRIM63 2023 2023-04-21
OMIA:002232-9823 Myopathy, congenital, SPTBN4-related Sus scrofa pig SPTBN4 2019 2020-01-28
OMIA:000698-9823 Myotonia Sus scrofa pig CLCN1 2019 2021-10-19
OMIA:002594-9823 N-acetyl-galactosamine, reduced intestinal concentration Sus scrofa pig ABO 2022 2022-11-15
OMIA:002241-9823 Neurofibromatosis, type 1 Sus scrofa pig 2021-10-19
OMIA:001472-9823 Neuronal ceroid lipofuscinosis, 2 Sus scrofa pig TPP1 2022 2023-01-10
OMIA:002432-9823 Neuronal ceroid lipofuscinosis, 3 Sus scrofa pig 2021-09-24
OMIA:001150-9823 Neuropathy, peripheral Sus scrofa pig 2005-09-06
OMIA:001436-9823 Non-shivering thermiogenesis, absence of Sus scrofa pig UCP1 2006 2022-01-11
OMIA:001258-9823 Obesity Sus scrofa pig 2022-01-11
OMIA:000862-9823 Oedema disease, resistance/susceptibility to (F18 receptor) Sus scrofa pig FUT1 2000 2023-10-16
OMIA:002383-9823 Ornithine transcarbamylase deficiency Sus scrofa pig OTC 2021-12-26
OMIA:000747-9823 Osteoarthritis Sus scrofa pig 2005-09-06
OMIA:000750-9823 Osteochondrosis Sus scrofa pig 2022-01-29
OMIA:001266-9823 Otitis media, susceptibility to Sus scrofa pig 2005-09-06
OMIA:002552-9823 Pancreatic agenesis, PDX1-related Sus scrofa pig 2022-05-31
OMIA:002488-9823 Parkinson disease, PARK7-related Sus scrofa pig PARK7 2014 2023-01-13
OMIA:002361-9823 Parkinson disease, PINK1-related Sus scrofa pig 2022-01-09
OMIA:002748-9823 Parkinson disease, PRKN-related Sus scrofa pig 2023-08-13
OMIA:002378-9823 Parkinson disease, SNCA-related Sus scrofa pig 2021-12-26
OMIA:002581-9823 Pelvic organ prolapse, susceptibility to Sus scrofa pig 2022-10-24
OMIA:002293-9823 Phenylketonuria Sus scrofa pig 2021-12-26
OMIA:000807-9823 Polycystic kidney disease Sus scrofa pig PKD1 2015 2022-11-15
OMIA:002525-9823 Polycystic kidney disease-2 Sus scrofa pig PKD2 2022 2023-01-12
OMIA:000810-9823 Polydactyly Sus scrofa pig 2022-01-31
OMIA:001158-9823 Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis Sus scrofa pig 2005-09-06
OMIA:002495-9823 Polyunsaturated fatty acid ratio Sus scrofa pig 2022-01-11
OMIA:001176-9823 Porphyria cutanea tarda Sus scrofa pig 2005-09-06
OMIA:001175-9823 Porphyria, congenital erythropoietic Sus scrofa pig 2005-09-06
OMIA:000815-9823 Porphyria, unclassified Sus scrofa pig 2005-09-06
OMIA:000817-9823 Portosystemic shunt Sus scrofa pig 2005-09-06
OMIA:001213-9823 Premature senesence Sus scrofa pig LMNA 2019 2021-12-26
OMIA:000834-9823 Protamine-2 deficiency Sus scrofa pig 2005-09-06
OMIA:000841-9823 Pulmonary hypertension Sus scrofa pig 2019-04-15
OMIA:001691-9823 Recombination rate Sus scrofa pig 2021-09-16
OMIA:002497-9823 Resistance/susceptibility to African swine fever virus (ASFV) Sus scrofa pig 2022-01-11
OMIA:002359-9823 Resistance/susceptibility to classical swine fever virus (CSFV) Sus scrofa pig 2021-06-25
OMIA:002358-9823 Resistance/susceptibility to porcine epidemic diarrhea virus (PEDV) Sus scrofa pig 2021-06-25
OMIA:001752-9823 Resistance/susceptibility to porcine reproductive and respiratory syndrome virus (PRRSV) Sus scrofa pig CD163 2018 2022-01-11
OMIA:002357-9823 Resistance/susceptibility to transmissible gastroenteritis virus (TGEV) Sus scrofa pig 2021-06-25
OMIA:000101-9823 Respiratory distress syndrome Sus scrofa pig 2005-09-06
OMIA:001929-9823 Retinal atrophy - Cone-rod dystrophy 6 Sus scrofa pig 2021-07-14
OMIA:002703-9823 Semen quality, SPAG6-related Sus scrofa pig 2023-05-23
OMIA:001574-9823 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive Sus scrofa pig 2016-09-29
OMIA:001986-9823 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation Sus scrofa pig DCLRE1C 2015 2016-04-01
OMIA:000899-9823 Severe combined immunodeficiency disease, X-linked Sus scrofa pig 2021-12-26
OMIA:000928-9823 Spastic paresis Sus scrofa pig 2013-08-31
OMIA:002442-9823 Sperm flagella defect, DNAH17-related Sus scrofa pig DNAH17 2021 2021-09-28
OMIA:001334-9823 Sperm, short tail Sus scrofa pig 2023-10-16
OMIA:002435-9823 Sperm, short tail, SPEF2-related Sus scrofa pig SPEF2 2006 2021-09-27
OMIA:002489-9823 Spermatogenic arrest, DAZL-related Sus scrofa pig 2021-12-26
OMIA:001673-9823 Spermatogenic arrest, TEX14-related Sus scrofa pig TEX14 2011 2011-12-09
OMIA:002784-9823 Spinal muscular atrophy, SMN1-related Sus scrofa pig 2023-10-05
OMIA:000944-9823 Spongiform encephalopathy, susceptibility/resistance to Sus scrofa pig 2020-05-15
OMIA:002179-9823 Stargardt disease 1 Sus scrofa pig 2023-03-08
OMIA:002311-9823 sterile, male, NANOS2-related Sus scrofa pig 2021-02-18
OMIA:002674-9823 sterile, NANOS3-related Sus scrofa pig 2023-04-26
OMIA:001685-9823 Stress syndrome, DMD-related Sus scrofa pig DMD 2012 2021-07-10
OMIA:000952-9823 Subaortic stenosis Sus scrofa pig 2005-09-06
OMIA:000963-9823 Syndactyly Sus scrofa pig 2022-01-14
OMIA:000969-9823 Tachycardia Sus scrofa pig 2005-09-06
OMIA:000729-9823 Teat / nipple, inverted Sus scrofa pig 2009-12-01
OMIA:000985-9823 Teat / nipple, number Sus scrofa pig 2021-08-28
OMIA:001761-9823 Telomere length Sus scrofa pig 2023-08-27
OMIA:001001-9823 Thrombocytopenia Sus scrofa pig 2023-08-28
OMIA:001104-9823 Thrombocytopenic purpura, autoimmune Sus scrofa pig 2005-09-06
OMIA:001016-9823 Tremor Sus scrofa pig 2005-07-16
OMIA:001200-9823 Tremor, high-frequency Sus scrofa pig MYH7 2012 2012-11-23
OMIA:000770-9823 Tremor, X-linked Sus scrofa pig 2005-09-06
OMIA:001856-9823 Tuberculosis, susceptibility/resistance to Sus scrofa pig 2013-06-15
OMIA:002427-9823 Tuberous sclerosis, TSC1-related Sus scrofa pig 2021-09-17
OMIA:002078-9823 Tyrosinemia, type I Sus scrofa pig 2021-06-10
OMIA:001033-9823 Urolithiasis Sus scrofa pig 2013-08-05
OMIA:001041-9823 Ventricular septal defect Sus scrofa pig 2005-09-06
OMIA:001046-9823 Vertebral anomalies Sus scrofa pig 2005-09-06
OMIA:002268-9823 Vitamin C deficiency Sus scrofa pig GULO 2004 2020-05-20
OMIA:000837-9823 Vitamin D-deficiency rickets, type IA Sus scrofa pig CYP27B1 2003 2012-09-21
OMIA:001057-9823 Von Willebrand disease I Sus scrofa pig 2021-09-10
OMIA:001058-9823 Von Willebrand disease III Sus scrofa pig VWF 2018 2021-09-10
OMIA:001056-9823 Von Willebrand disease, generic Sus scrofa pig 2021-12-26
OMIA:002453-9823 Waardenburg syndrome, SOX10-related Sus scrofa pig SOX10 2016 2021-10-19
OMIA:001401-9823 Waardenburg syndrome, type 2A Sus scrofa pig MITF 2016 2021-12-25
OMIA:001142-9823 Wilms tumour Sus scrofa pig 2005-09-06
OMIA:001071-9823 Wilson disease Sus scrofa pig 2005-09-06
OMIA:002047-9823 XX sex reversal, SRY-related Sus scrofa pig 2023-10-01
OMIA:001230-9823 XY sex reversal, SRY-related Sus scrofa pig SRY 2021 2023-10-01
OMIA:001079-9823 Yellow fat Sus scrofa pig 2012-11-24