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196 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 002571-98235-Hydroxytryptamine deficiencySus scrofapig 2022-09-12
OMIA 002178-9823Abortion, BBS9 and BMPER-relatedSus scrofapig sBMPER, BBS9 2018 2021-08-24
OMIA 002183-9823Abortion, PNKP-relatedSus scrofapig PNKP 2019 2021-08-24
OMIA 002181-9823Abortion, POLR1B-relatedSus scrofapig POLR1B 2019 2021-08-24
OMIA 002180-9823Abortion, TADA2A-relatedSus scrofapig TADA2A 2019 2021-08-24
OMIA 002182-9823Abortion, URB1-relatedSus scrofapig URB1 2019 2021-08-24
OMIA 001926-9823Achondrogenesis, type IISus scrofapig 2020-06-02
OMIA 000022-9823AgnathiaSus scrofapig 2011-10-04
OMIA 001702-9823Alopecia areataSus scrofapig 2013-05-15
OMIA 002538-9823Alzheimer disease, APP-relatedSus scrofapig APP 2009 2022-03-19
OMIA 000033-9823Alzheimer disease, genericSus scrofapig 2022-03-19
OMIA 002493-9823Alzheimer disease, PSEN1-relatedSus scrofapig PSEN1 2013 2022-03-19
OMIA 002575-9823Alzheimer, SORL1-relatedSus scrofapig 2022-09-17
OMIA 002491-9823Amyotrophic lateral sclerosis, SOD1-relatedSus scrofapig 2022-01-09
OMIA 002492-9823Amyotrophic lateral sclerosis, TARDBP-relatedSus scrofapig 2022-01-09
OMIA 000991-9823Androgen insensitivity syndrome (AIS)Sus scrofapig 2005-09-06
OMIA 002283-9823Arthrogryposis multiplex congenita, KIF21A-relatedSus scrofapig KIF21A 2020 2020-07-24
OMIA 002044-9823Ataxia telangiectasiaSus scrofapig 2016-10-17
OMIA 000080-9823AtherosclerosisSus scrofapig 2005-09-06
OMIA 002430-9823Beta-2-microglobulin deficiencySus scrofapig 2021-09-18
OMIA 001089-9823Blood group system ABOSus scrofapig GGTA1 2001 2022-09-12
OMIA 001551-9823BrachycephalySus scrofapig 2021-08-22
OMIA 001183-9823Bullous pemphigoidSus scrofapig 2005-09-06
OMIA 002054-9823Cancer, RUNX-relatedSus scrofapig 2021-12-26
OMIA 001990-9823Cancer, TP53-relatedSus scrofapig 2022-01-11
OMIA 000162-9823Cardiomyopathy, dilatedSus scrofapig 2005-09-06
OMIA 000515-9823Cardiomyopathy, hypertrophicSus scrofapig 2018-03-24
OMIA 002212-9823Cardiomyopathy, hypertrophic, MYH7-relatedSus scrofapig 2021-12-26
OMIA 002211-9823Cardiomyopathy, hypertrophic, SGCD-relatedSus scrofapig 2021-12-26
OMIA 002477-9823Cardiovascular disease risk, ASGR1-relatedSus scrofapig ASGR1 2021 2021-11-16
OMIA 000179-9823Cerebellar hypoplasiaSus scrofapig 2005-09-06
OMIA 001513-9823Chronic myelogenous leukemiaSus scrofapig 2021-02-23
OMIA 000573-9823Ciliary dyskinesia, primary, genericSus scrofapig 2005-09-06
OMIA 000197-9823Cleft palateSus scrofapig 2019-05-15
OMIA 002410-9823CMAH enzyme deficiencySus scrofapig 2022-01-11
OMIA 000201-9823Coat colour, agoutiSus scrofapig 2011-09-12
OMIA 001479-9823Coat colour, black and tanSus scrofapig 2009-12-01
OMIA 001249-9823Coat colour, brown, TYRP1-relatedSus scrofapig TYRP1 2011 2022-11-23
OMIA 000209-9823Coat colour, dominant whiteSus scrofapig KIT 1996 2022-11-23
OMIA 001199-9823Coat colour, extensionSus scrofapig MC1R 1998 2022-09-11
OMIA 000202-9823Coat colour, oculocutaneous albinism type I (OCA1), TYR-relatedSus scrofapig 2021-06-25
OMIA 001743-9823Coat colour, patchSus scrofapig KIT 1998 2012-11-25
OMIA 001216-9823Coat colour, roanSus scrofapig KIT 2011 2011-12-09
OMIA 001469-9823Coat colour, white beltSus scrofapig 2018-09-15
OMIA 001745-9823Coat colour, white belt, KIT-relatedSus scrofapig KIT 2012 2021-02-24
OMIA 001929-9823Cone-rod dystrophy 6Sus scrofapig 2021-07-14
OMIA 002464-9823Cryopyrin-associated periodic syndrome, NLRP3-relatedSus scrofapig NLRP3 2020 2021-12-26
OMIA 000243-9823CryptorchidismSus scrofapig 2021-09-16
OMIA 001794-9823Cystic fibrosisSus scrofapig 2021-08-28
OMIA 002148-9823Deafness, bilateral, and vestibular dysfunctionSus scrofapig MYO7A 2021 2021-05-26
OMIA 002439-9823Deafness, GJB2-relatedSus scrofapig 2021-09-27
OMIA 002360-9823Deafness, OSBPL2-relatedSus scrofapig 2021-06-25
OMIA 000278-9823Diabetes insipidusSus scrofapig 2016-10-17
OMIA 000279-9823Diabetes mellitusSus scrofapig 2021-12-26
OMIA 000284-9823Diabetes mellitus, type IISus scrofapig 2022-05-31
OMIA 001323-9823Dwarfism, LaronSus scrofapig 2022-01-30
OMIA 001718-9823Dwarfism, Schmid metaphyseal chondrodysplasiaSus scrofapig COL10A1 2000 2012-09-17
OMIA 001579-9823Ear sizeSus scrofapig sPPARD, WIF1 2011 2020-05-21
OMIA 000319-9823Ears, folded (drop vs prick)Sus scrofapig MSRB3 2018 2020-04-19
OMIA 002157-9823Ectodermal dysplasia-9Sus scrofapig 2022-09-12
OMIA 000348-9823Epitheliogenesis imperfectaSus scrofapig 2009-12-01
OMIA 000354-9823Exostoses, multipleSus scrofapig 2013-07-17
OMIA 001916-9823Familial adenomatous polyposisSus scrofapig 2021-12-26
OMIA 001090-9823Fatty metamorphosis of visceraSus scrofapig 2011-10-18
OMIA 002306-9823Fecundity, BMP15-relatedSus scrofapig BMP15 2021 2021-01-10
OMIA 000392-9823Fragile siteSus scrofapig 2005-09-06
OMIA 001461-9823Gangliosidosis, GM2, type I (B variant)Sus scrofapig HEXA 2021 2021-06-16
OMIA 002544-9823GAPO syndromeSus scrofapig 2022 2022-09-11
OMIA 000405-9823Gaucher disease, type ISus scrofapig 2017-10-17
OMIA 002012-9823Glioma susceptibilitySus scrofapig 2021-11-08
OMIA 000424-9823Goitre, familialSus scrofapig 2005-09-06
OMIA 001813-9823HaemangiosarcomaSus scrofapig 2013-05-22
OMIA 000437-9823Haemophilia ASus scrofapig 2021-06-25
OMIA 000438-9823Haemophilia BSus scrofapig 2021-12-26
OMIA 002376-9823Heart defect, congenital, SAP130-relatedSus scrofapig 2021-08-11
OMIA 000459-9823Hernia, diaphragmaticSus scrofapig 2005-09-06
OMIA 000462-9823Hernia, inguinalSus scrofapig 2005-09-06
OMIA 000468-9823Heterochromia irides/iridisSus scrofapig 2005-09-06
OMIA 000473-9823Hip dysplasiaSus scrofapig 2005-09-06
OMIA 000620-9823Histiocytosis, malignantSus scrofapig 2005-09-06
OMIA 000478-9823HoloprosencephalySus scrofapig 2005-09-06
OMIA 000485-9823Huntington diseaseSus scrofapig 2022-01-09
OMIA 000487-9823HydrocephalusSus scrofapig 2005-09-06
OMIA 000493-9823Hydrops foetalisSus scrofapig 2012-04-12
OMIA 002369-9823Hygroma, cysticSus scrofapig 2021-07-28
OMIA 000499-9823HypercholesterolaemiaSus scrofapig LDLR 1998 2021-12-25
OMIA 002329-9823Hypercholesterolemia, PCSK9-relatedSus scrofapig 2021-04-20
OMIA 001160-9823HyperlipidaemiaSus scrofapig 2005-09-06
OMIA 002063-9823Hyperlipidaemia/atherosclerosis, APOE-relatedSus scrofapig APOE 2017 2021-11-03
OMIA 000507-9823HyperostosisSus scrofapig 2005-09-06
OMIA 002217-9823Hyperphagia leading to hepatic steatosisSus scrofapig MC4R 2020 2021-09-03
OMIA 002287-9823Hypopigmentation and deafnessSus scrofapig KIT 2020 2020-10-21
OMIA 002210-9823Hypothyroidism, congenital, DUOX2-relatedSus scrofapig DUOX2 2019 2021-02-23
OMIA 001278-9823Hypotrichosis, dominantSus scrofapig 2005-09-06
OMIA 000540-9823Hypotrichosis, genericSus scrofapig 2005-09-06
OMIA 002229-9823Hypotrichosis, HR-relatedSus scrofapig 2021-08-30
OMIA 001458-9823Hypotrichosis, juvenile with age-dependent emphysemaSus scrofapig 2013-09-20
OMIA 002238-9823Ichthyosis, ABCA12-relatedSus scrofapig ABCA12 2019 2021-11-04
OMIA 000562-9823InfertilitySus scrofapig 2005-09-06
OMIA 002496-9823Intramuscular fat, PPARG-relatedSus scrofapig 2022-01-11
OMIA 000576-9823Knobbed acrosomeSus scrofapig BOLL 2020 2020-10-26
OMIA 002161-9823Leg weakness, MSTN-relatedSus scrofapig MSTN 2019 2019-02-01
OMIA 002147-9823Leigh syndrome, SURF1-relatedSus scrofapig 2021-12-26
OMIA 000621-9823Malignant hyperthermiaSus scrofapig RYR1 1991 2021-04-09
OMIA 000628-9823Marfan syndromeSus scrofapig FBN1 2016 2021-12-26
OMIA 001085-9823Meat quality (Rendement Napole)Sus scrofapig PRKAG3 2000 2021-08-14
OMIA 000629-9823MegacolonSus scrofapig 2005-09-06
OMIA 000633-9823Melanoma, Sinclair swine cutaneous malignantSus scrofapig 2009-12-01
OMIA 000636-9823Membranoproliferative glomerulonephritis type IISus scrofapig CFH 2002 2012-09-21
OMIA 001952-9823MicrotiaSus scrofapig HOXA1 2015 2015-04-16
OMIA 002247-9823Microvillus inclusion diseaseSus scrofapig 2020-03-02
OMIA 001342-9823Mucopolysaccharidosis IIIBSus scrofapig 2019-03-30
OMIA 002467-9823Muscle growth, IGF2-relatedSus scrofapig 2022-01-11
OMIA 002468-9823Muscle growth, ZBED6-relatedSus scrofapig ZBED6 2021 2021-11-03
OMIA 002494-9823Muscle hypertrophy, FBXO40-relatedSus scrofapig 2022-01-11
OMIA 001888-9823Muscular dystrophy, Becker typeSus scrofapig DMD 2022 2022-05-20
OMIA 001081-9823Muscular dystrophy, Duchenne typeSus scrofapig DMD 2013 2022-01-30
OMIA 000683-9823Muscular hypertrophy (double muscling)Sus scrofapig MSTN 2008 2022-11-25
OMIA 002232-9823Myopathy, congenital, SPTBN4-relatedSus scrofapig SPTBN4 2019 2020-01-28
OMIA 000698-9823MyotoniaSus scrofapig CLCN1 2019 2021-10-19
OMIA 002594-9823N-acetyl-galactosamine, reduced intestinal concentrationSus scrofapig ABO 2022 2022-11-15
OMIA 000710-9823NephropathySus scrofapig 2005-09-06
OMIA 002241-9823Neurofibromatosis, type 1Sus scrofapig 2021-10-19
OMIA 002432-9823Neuronal ceroid lipofuscinosis, 3Sus scrofapig 2021-09-24
OMIA 001150-9823Neuropathy, peripheralSus scrofapig 2005-09-06
OMIA 001436-9823Non-shivering thermiogenesis, absence ofSus scrofapig UCP1 2006 2022-01-11
OMIA 001258-9823ObesitySus scrofapig 2022-01-11
OMIA 000862-9823Oedema disease, resistance/susceptibility to (F18 receptor)Sus scrofapig FUT1 2000 2021-08-25
OMIA 002383-9823Ornithine transcarbamylase deficiencySus scrofapig OTC 2021-12-26
OMIA 000747-9823OsteoarthritisSus scrofapig 2005-09-06
OMIA 000750-9823OsteochondrosisSus scrofapig 2022-01-29
OMIA 001266-9823Otitis media, susceptibility toSus scrofapig 2005-09-06
OMIA 001230-9823Ovotesticular DSD (Disorder of Sexual Development)Sus scrofapig 2021-01-28
OMIA 002552-9823Pancreatic agenesis, PDX1-relatedSus scrofapig 2022-05-31
OMIA 002488-9823Parkinson disease, PARK7-relatedSus scrofapig PARK7 2014 2021-12-26
OMIA 002361-9823Parkinson disease, PINK1-relatedSus scrofapig 2022-01-09
OMIA 002378-9823Parkinson disease, SNCA-relatedSus scrofapig 2021-12-26
OMIA 002581-9823Pelvic organ prolapse, susceptibility toSus scrofapig 2022-10-24
OMIA 000786-9823PeromeliaSus scrofapig 2021-08-31
OMIA 002293-9823PhenylketonuriaSus scrofapig 2021-12-26
OMIA 000807-9823Polycystic kidney diseaseSus scrofapig PKD1 2015 2022-11-15
OMIA 000810-9823PolydactylySus scrofapig 2022-01-31
OMIA 001158-9823Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysisSus scrofapig 2005-09-06
OMIA 002495-9823Polyunsaturated fatty acid ratioSus scrofapig 2022-01-11
OMIA 001176-9823Porphyria cutanea tardaSus scrofapig 2005-09-06
OMIA 001175-9823Porphyria, congenital erythropoieticSus scrofapig 2005-09-06
OMIA 000815-9823Porphyria, unclassifiedSus scrofapig 2005-09-06
OMIA 000817-9823Portosystemic shuntSus scrofapig 2005-09-06
OMIA 001213-9823Premature senesenceSus scrofapig LMNA 2019 2021-12-26
OMIA 000834-9823Protamine-2 deficiencySus scrofapig 2005-09-06
OMIA 000841-9823Pulmonary hypertensionSus scrofapig 2019-04-15
OMIA 001691-9823Recombination rateSus scrofapig 2021-09-16
OMIA 002497-9823Resistance/susceptibility to African swine fever virus (ASFV)Sus scrofapig 2022-01-11
OMIA 002359-9823Resistance/susceptibility to classical swine fever virus (CSFV)Sus scrofapig 2021-06-25
OMIA 002358-9823Resistance/susceptibility to porcine epidemic diarrhea virus (PEDV)Sus scrofapig 2021-06-25
OMIA 001752-9823Resistance/susceptibility to porcine reproductive and respiratory syndrome (PRRS) virusSus scrofapig CD163 2018 2022-01-11
OMIA 002357-9823Resistance/susceptibility to transmissible gastroenteritis virus (TGEV)Sus scrofapig 2021-06-25
OMIA 000101-9823Respiratory distress syndromeSus scrofapig 2005-09-06
OMIA 001574-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positiveSus scrofapig 2016-09-29
OMIA 001986-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiationSus scrofapig DCLRE1C 2015 2016-04-01
OMIA 000899-9823Severe combined immunodeficiency disease, X-linkedSus scrofapig 2021-12-26
OMIA 000928-9823Spastic paresisSus scrofapig 2013-08-31
OMIA 002442-9823Sperm flagella defect, DNAH17-relatedSus scrofapig DNAH17 2021 2021-09-28
OMIA 001334-9823Sperm, short tailSus scrofapig 2021-09-27
OMIA 002435-9823Sperm, short tail, SPEF2-relatedSus scrofapig SPEF2 2006 2021-09-27
OMIA 002489-9823Spermatogenic arrest, DAZL-relatedSus scrofapig 2021-12-26
OMIA 001673-9823Spermatogenic arrest, TEX14-relatedSus scrofapig TEX14 2011 2011-12-09
OMIA 000944-9823Spongiform encephalopathy, susceptibility/resistance toSus scrofapig 2020-05-15
OMIA 002311-9823sterile, male-NANOS2 relatedSus scrofapig 2021-02-18
OMIA 001685-9823Stress syndrome, DMD-relatedSus scrofapig DMD 2012 2021-07-10
OMIA 000952-9823Subaortic stenosisSus scrofapig 2005-09-06
OMIA 000963-9823SyndactylySus scrofapig 2022-01-14
OMIA 000969-9823TachycardiaSus scrofapig 2005-09-06
OMIA 000729-9823Teat / nipple, invertedSus scrofapig 2009-12-01
OMIA 000985-9823Teat / nipple, numberSus scrofapig 2021-08-28
OMIA 001104-9823Thrombocytopenic purpura, autoimmuneSus scrofapig 2005-09-06
OMIA 001016-9823TremorSus scrofapig 2005-07-16
OMIA 001200-9823Tremor, high-frequencySus scrofapig MYH7 2012 2012-11-23
OMIA 000770-9823Tremor, X-linkedSus scrofapig 2005-09-06
OMIA 001856-9823Tuberculosis, susceptibility/resistance toSus scrofapig 2013-06-15
OMIA 002427-9823Tuberous sclerosis, TSC1-relatedSus scrofapig 2021-09-17
OMIA 002078-9823Tyrosinemia, type ISus scrofapig 2021-06-10
OMIA 001033-9823UrolithiasisSus scrofapig 2013-08-05
OMIA 001041-9823Ventricular septal defectSus scrofapig 2005-09-06
OMIA 001046-9823Vertebral anomaliesSus scrofapig 2005-09-06
OMIA 002268-9823Vitamin C deficiencySus scrofapig GULO 2004 2020-05-20
OMIA 000837-9823Vitamin D-deficiency rickets, type IASus scrofapig CYP27B1 2003 2012-09-21
OMIA 001057-9823Von Willebrand disease ISus scrofapig 2021-09-10
OMIA 001058-9823Von Willebrand disease IIISus scrofapig VWF 2018 2021-09-10
OMIA 001056-9823Von Willebrand disease, genericSus scrofapig 2021-12-26
OMIA 002453-9823Waardenburg syndrome, SOX10-relatedSus scrofapig SOX10 2016 2021-10-19
OMIA 001401-9823Waardenburg syndrome, type 2ASus scrofapig MITF 2016 2021-12-25
OMIA 001142-9823Wilms tumourSus scrofapig 2005-09-06
OMIA 001071-9823Wilson diseaseSus scrofapig 2005-09-06
OMIA 000901-9823XX testicular DSD (Disorder of Sexual Development)Sus scrofapig 2013-11-15
OMIA 001079-9823Yellow fatSus scrofapig 2012-11-24