Search Results

Advanced search

257 phene records found

[show instead gene records]

By default, tables are sorted chronologically by Year Key Mutation First Reported, to provide a historical perspective.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order.

To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First Reported
OMIA 002059-9823Abortion due to haplotype 8-2026Sus scrofapig
OMIA 000020-9823Agenesia of anal sphincterSus scrofapig
OMIA 000022-9823AgnathiaSus scrofapig
OMIA 001702-9823Alopecia areataSus scrofapig
OMIA 000038-9823Amyloidosis, AASus scrofapig
OMIA 001087-9823AnaemiaSus scrofapig
OMIA 000991-9823Androgen insensitivity syndrome (AIS)Sus scrofapig
OMIA 000049-9823AnophthalmosSus scrofapig
OMIA 000055-9823Aplasia of tongueSus scrofapig
OMIA 000062-9823Artery, anomaly ofSus scrofapig
OMIA 000064-9823ArthritisSus scrofapig
OMIA 000065-9823Arthritis deformansSus scrofapig
OMIA 001465-9823Arthrogryposis multiplex congenita, genericSus scrofapig
OMIA 000076-9823Asymmetric hindquarter syndromeSus scrofapig
OMIA 002044-9823Ataxia telangiectasiaSus scrofapig
OMIA 001091-9823Ataxia, progressiveSus scrofapig
OMIA 000080-9823AtherosclerosisSus scrofapig
OMIA 000083-9823Atresia aniSus scrofapig
OMIA 000086-9823Atresia ileiSus scrofapig
OMIA 000091-9823Atrophic rhinitisSus scrofapig
OMIA 002011-9823B-cell deficiencySus scrofapig
OMIA 000113-9823Bleeding disorderSus scrofapig
OMIA 000115-9823Blindness, congenitalSus scrofapig
OMIA 000117-9823Blood group system ASus scrofapig
OMIA 001089-9823Blood group system ABOSus scrofapig GGTA1 2001
OMIA 000120-9823Blood group system BSus scrofapig
OMIA 000121-9823Blood group system CSus scrofapig
OMIA 000122-9823Blood group system DSus scrofapig
OMIA 000123-9823Blood group system ESus scrofapig
OMIA 000124-9823Blood group system FSus scrofapig
OMIA 000127-9823Blood group system GSus scrofapig
OMIA 000128-9823Blood group system HSus scrofapig
OMIA 000129-9823Blood group system ISus scrofapig
OMIA 000130-9823Blood group system JSus scrofapig
OMIA 000131-9823Blood group system KSus scrofapig
OMIA 000132-9823Blood group system LSus scrofapig
OMIA 000133-9823Blood group system MSus scrofapig
OMIA 000134-9823Blood group system NSus scrofapig
OMIA 001250-9823Blood group system OSus scrofapig
OMIA 000139-9823Blood group system SSus scrofapig
OMIA 000116-9823Blood group systems, genericSus scrofapig
OMIA 000146-9823BrachydactylySus scrofapig
OMIA 000149-9823Brachygnathia superiorSus scrofapig
OMIA 001183-9823Bullous pemphigoid antigenSus scrofapig
OMIA 001990-9823Cancer model, KRAS and TP53Sus scrofapig
OMIA 000162-9823Cardiomyopathy, dilatedSus scrofapig
OMIA 000515-9823Cardiomyopathy, hypertrophicSus scrofapig
OMIA 000173-9823CephalothoracophagusSus scrofapig
OMIA 000176-9823Cerebellar anomaly, congenitalSus scrofapig
OMIA 000179-9823Cerebellar hypoplasiaSus scrofapig
OMIA 000187-9823ChondrodysplasiaSus scrofapig
OMIA 000189-9823ChondrodystrophySus scrofapig
OMIA 000197-9823Cleft palateSus scrofapig
OMIA 000412-9823CloacaSus scrofapig
OMIA 000201-9823Coat colour, agoutiSus scrofapig
OMIA 000202-9823Coat colour, albinismSus scrofapig
OMIA 001479-9823Coat colour, black and tanSus scrofapig
OMIA 001362-9823Coat colour, blondSus scrofapig TYRP1 2015
OMIA 001249-9823Coat colour, brownSus scrofapig TYRP1 2011
OMIA 001336-9823Coat colour, change inSus scrofapig
OMIA 000209-9823Coat colour, dominant whiteSus scrofapig KIT 1996
OMIA 001199-9823Coat colour, extensionSus scrofapig MC1R 1998
OMIA 001743-9823Coat colour, patchSus scrofapig KIT 1998
OMIA 000212-9823Coat colour, pink-eyed dilutionSus scrofapig
OMIA 001216-9823Coat colour, roanSus scrofapig KIT 2011
OMIA 001469-9823Coat colour, white beltSus scrofapig
OMIA 001745-9823Coat colour, white belt, KIT-relatedSus scrofapig KIT 2012
OMIA 000200-9823Coat colours, genericSus scrofapig
OMIA 001929-9823Cone-rod dystrophy 6Sus scrofapig
OMIA 000237-9823CranioschisisSus scrofapig
OMIA 000243-9823CryptorchidismSus scrofapig
OMIA 000249-9823CyclopiaSus scrofapig
OMIA 000250-9823Cystic bile ducts and renal tubulesSus scrofapig
OMIA 001794-9823Cystic fibrosisSus scrofapig
OMIA 000253-9823Cystic microphthalmiaSus scrofapig
OMIA 000259-9823DeafnessSus scrofapig
OMIA 000271-9823Dermatosis vegetansSus scrofapig
OMIA 000278-9823Diabetes insipidusSus scrofapig
OMIA 000284-9823Diabetes mellitus, type IISus scrofapig
OMIA 000286-9823Diaphragmatic defectsSus scrofapig
OMIA 000287-9823DicephalusSus scrofapig
OMIA 000299-9823DwarfismSus scrofapig
OMIA 001323-9823Dwarfism, LaronSus scrofapig
OMIA 001718-9823Dwarfism, Schmid metaphyseal chondrodysplasiaSus scrofapig COL10A1 2000
OMIA 000314-9823Ear defectSus scrofapig
OMIA 001711-9823Ear necrosis syndromeSus scrofapig
OMIA 001579-9823Ear sizeSus scrofapig PPARD 2011
OMIA 002157-9823Ectodermal dysplasia-9Sus scrofapig HOXC13 2017
OMIA 000333-9823Embryonic atrophySus scrofapig
OMIA 000337-9823EntropionSus scrofapig
OMIA 000343-9823Epididymal aplasiaSus scrofapig
OMIA 000348-9823Epitheliogenesis imperfectaSus scrofapig
OMIA 000354-9823Exostosis, multipleSus scrofapig
OMIA 000356-9823Eye balls, lack ofSus scrofapig
OMIA 001916-9823Familial adenomatous polyposisSus scrofapig
OMIA 001090-9823Fatty metamorphosis of visceraSus scrofapig
OMIA 000392-9823Fragile siteSus scrofapig
OMIA 000393-9823FreemartinSus scrofapig
OMIA 000401-9823GangliosidosisSus scrofapig
OMIA 000403-9823Gangliosidosis, GM2, genericSus scrofapig
OMIA 000405-9823Gaucher disease, type ISus scrofapig
OMIA 000408-9823Gestation lengthSus scrofapig
OMIA 000424-9823Goitre, familialSus scrofapig
OMIA 001813-9823HaemangiosarcomaSus scrofapig
OMIA 000437-9823Haemophilia ASus scrofapig
OMIA 000444-9823HarelipSus scrofapig
OMIA 000446-9823Heart defect, congenitalSus scrofapig
OMIA 000459-9823Hernia, diaphragmaticSus scrofapig
OMIA 000455-9823Hernia, genericSus scrofapig
OMIA 000462-9823Hernia, inguinalSus scrofapig
OMIA 000464-9823Hernia, scrotalSus scrofapig
OMIA 000465-9823Hernia, umbilicalSus scrofapig
OMIA 000468-9823Heterochromia irides/iridisSus scrofapig
OMIA 001086-9823Hind limb atrophySus scrofapig
OMIA 000472-9823Hind limb paralysisSus scrofapig
OMIA 000473-9823Hip dysplasiaSus scrofapig
OMIA 000620-9823Histiocytosis, malignantSus scrofapig
OMIA 000474-9823HistocytosisSus scrofapig
OMIA 000478-9823HoloprosencephalySus scrofapig
OMIA 000485-9823Huntington diseaseSus scrofapig
OMIA 000487-9823HydrocephalusSus scrofapig
OMIA 000491-9823HydrodorsalSus scrofapig
OMIA 000493-9823Hydrops foetalisSus scrofapig
OMIA 000499-9823HypercholesterolaemiaSus scrofapig LDLR 1998
OMIA 001160-9823HyperlipidaemiaSus scrofapig
OMIA 000507-9823HyperostosisSus scrofapig
OMIA 000527-9823Hypomyelinogenesis, congenitalSus scrofapig
OMIA 000534-9823Hyposelenaemia-hyperselenaemiaSus scrofapig
OMIA 000540-9823HypotrichosisSus scrofapig
OMIA 001278-9823Hypotrichosis, dominantSus scrofapig
OMIA 001458-9823Hypotrichosis, juvenile with age-dependent emphysemaSus scrofapig
OMIA 001279-9823Hypotrichosis, recessiveSus scrofapig
OMIA 000550-9823ImmunodeficiencySus scrofapig
OMIA 000558-9823Imperforate anusSus scrofapig
OMIA 000560-9823Impotentia cocundiSus scrofapig
OMIA 000562-9823InfertilitySus scrofapig
OMIA 000564-9823IntersexSus scrofapig
OMIA 000573-9823Kartagener syndromeSus scrofapig
OMIA 000574-9823Kidney abnormalitySus scrofapig
OMIA 000576-9823Knobbed acrosomeSus scrofapig
OMIA 000584-9823Leg defectsSus scrofapig
OMIA 000585-9823Leg weaknessSus scrofapig
OMIA 002161-9823Leg weakness, MSTN-relatedSus scrofapig MSTN 2019
OMIA 000587-9823LeglessSus scrofapig
OMIA 002147-9823Leigh syndromeSus scrofapig
OMIA 000606-9823Lipomatosis, multipleSus scrofapig
OMIA 000615-9823LymphosarcomaSus scrofapig
OMIA 000617-9823MacrophthalmiaSus scrofapig
OMIA 000621-9823Malignant hyperthermiaSus scrofapig RYR1 1991
OMIA 001085-9823Meat quality (Rendement Napole)Sus scrofapig PRKAG3 2000
OMIA 000629-9823MegacolonSus scrofapig
OMIA 001324-9823MelanoblastomaSus scrofapig
OMIA 000634-9823Melanoma, congenitalSus scrofapig
OMIA 001480-9823Melanoma, Melanoma-bearing Libĕchov Minipig (MeLiM)Sus scrofapig
OMIA 000633-9823Melanoma, Sinclair swine cutaneous malignantSus scrofapig
OMIA 000636-9823Membranoproliferative glomerulonephritis type IISus scrofapig CFH 2002
OMIA 000649-9823MicrophthalmiaSus scrofapig
OMIA 001952-9823MicrotiaSus scrofapig HOXA1 2015
OMIA 000651-9823MiniatureSus scrofapig
OMIA 000657-9823MonobrachiaSus scrofapig
OMIA 000660-9823MortalitySus scrofapig
OMIA 000662-9823Motor neuron disease, lowerSus scrofapig
OMIA 000669-9823Multiple anomaliesSus scrofapig
OMIA 001242-9823Muscle colourSus scrofapig
OMIA 001888-9823Muscular dystrophy, Becker typeSus scrofapig
OMIA 001081-9823Muscular dystrophy, Duchenne typeSus scrofapig
OMIA 000683-9823Muscular hypertrophy (double muscling)Sus scrofapig MSTN 2008
OMIA 000697-9823Myositis ossificansSus scrofapig
OMIA 001088-9823Neonatal diarrhoea, K88/F4, resistance toSus scrofapig
OMIA 001092-9823Neonatal diarrhoea, K99Sus scrofapig
OMIA 000710-9823NephropathySus scrofapig
OMIA 000181-9823Neuronal Ceroid Lipofuscinosis, genericSus scrofapig
OMIA 001150-9823Neuropathy, peripheralSus scrofapig
OMIA 001108-9823Nipples, asymmetrical numbersSus scrofapig
OMIA 000729-9823Nipples, invertedSus scrofapig
OMIA 001436-9823Non-shivering thermiogenesis, absence ofSus scrofapig UCP1 2006
OMIA 001236-9823Nucleoside transport defectSus scrofapig
OMIA 001258-9823ObesitySus scrofapig
OMIA 000747-9823OsteoarthritisSus scrofapig
OMIA 001214-9823OsteochondromatosisSus scrofapig
OMIA 000750-9823OsteochondrosisSus scrofapig
OMIA 001277-9823Otitis interna, susceptibility toSus scrofapig
OMIA 001266-9823Otitis media, susceptibility toSus scrofapig
OMIA 000759-9823Ovarian aplasiaSus scrofapig
OMIA 000789-9823Perosomus elumbisSus scrofapig
OMIA 000792-9823Persistent frenulum praeputiiSus scrofapig
OMIA 000795-9823Persistent truncus arteriosusSus scrofapig
OMIA 000797-9823Phagocystic indexSus scrofapig
OMIA 000801-9823Pityriasis roseaSus scrofapig
OMIA 000810-9823PolydactylySus scrofapig
OMIA 000811-9823Polydactyly with otocephalic monsterSus scrofapig
OMIA 001158-9823Polysaccharide storage myopathy/Exertional rhabdomyolysisSus scrofapig
OMIA 001176-9823Porphyria cutanea tardaSus scrofapig
OMIA 001175-9823Porphyria, congenital erythropoieticSus scrofapig
OMIA 000815-9823Porphyria, unclassifiedSus scrofapig
OMIA 000817-9823Portosystemic shuntSus scrofapig
OMIA 001822-9823Postpartum dysgalactia syndromeSus scrofapig
OMIA 000826-9823Progressive cerebellar abiotrophySus scrofapig
OMIA 000829-9823Progressive myopathySus scrofapig
OMIA 000834-9823Protamine-2 deficiencySus scrofapig
OMIA 000848-9823RachitisSus scrofapig
OMIA 001096-9823Recumbent piglet traitSus scrofapig
OMIA 001257-9823Renal cystsSus scrofapig
OMIA 000858-9823Renal hypoplasia, bilateralSus scrofapig
OMIA 000855-9823Renal hypoplasia, unilateralSus scrofapig
OMIA 000862-9823Resistance to oedema disease (F18 receptor)Sus scrofapig FUT1 2000
OMIA 001752-9823Resistance to porcine reproductive and respiratory syndrome (PRRS) virusSus scrofapig CD163 2018
OMIA 001726-9823Resistance to Salmonella enterica serovar Choleraesuis (SC)Sus scrofapig
OMIA 000101-9823Respiratory distress syndromeSus scrofapig
OMIA 001413-9823Retinitis pigmentosaSus scrofapig
OMIA 000874-9823Rib and vertebral numberSus scrofapig
OMIA 001574-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positiveSus scrofapig
OMIA 001986-9823Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiationSus scrofapig DCLRE1C 2015
OMIA 000899-9823Severe combined immunodeficiency disease, X-linkedSus scrofapig
OMIA 000917-9823Skeletal deformitySus scrofapig
OMIA 001478-9823Skin wound healingSus scrofapig
OMIA 000885-9823SME sperm head defectSus scrofapig
OMIA 000928-9823Spastic paresisSus scrofapig
OMIA 001334-9823Sperm, short tailSus scrofapig SPEF2 2006
OMIA 001673-9823Spermatogenic arrestSus scrofapig TEX14 2011
OMIA 000944-9823Spongiform encephalopathySus scrofapig
OMIA 001685-9823Stress syndromeSus scrofapig DMD 2012
OMIA 000952-9823Subaortic stenosisSus scrofapig
OMIA 000963-9823Syndactyly (mule foot)Sus scrofapig
OMIA 000969-9823TachycardiaSus scrofapig
OMIA 000973-9823Tail, kinkySus scrofapig
OMIA 000977-9823TaillessnessSus scrofapig
OMIA 000985-9823Teat/nipple numberSus scrofapig
OMIA 001104-9823Thrombocytopenic purpura, autoimmuneSus scrofapig
OMIA 001003-9823ThrombopathiaSus scrofapig
OMIA 001011-9823Toes, inner, too smallSus scrofapig
OMIA 001016-9823TremorSus scrofapig
OMIA 001020-9823Tremor type A IV, congenitalSus scrofapig
OMIA 001200-9823Tremor, high-frequencySus scrofapig MYH7 2012
OMIA 000770-9823Tremor, X-linkedSus scrofapig
OMIA 001856-9823Tuberculosis, susceptibility/resistance toSus scrofapig
OMIA 002054-9823TumourSus scrofapig
OMIA 001023-9823Twinning, conjoinedSus scrofapig
OMIA 002078-9823Tyrosinemia, type ISus scrofapig
OMIA 001027-9823Ulcer, stomachSus scrofapig
OMIA 001033-9823UrolithiasisSus scrofapig
OMIA 001035-9823Uterine horns, partial doubling ofSus scrofapig
OMIA 001037-9823Uterus didelphysSus scrofapig
OMIA 001039-9823Various disordersSus scrofapig
OMIA 001041-9823Ventricular septal defectSus scrofapig
OMIA 001046-9823Vertebral anomaliesSus scrofapig
OMIA 000837-9823Vitamin D-deficiency rickets, type ISus scrofapig CYP27B1 2003
OMIA 001058-9823Von Willebrand disease IIISus scrofapig VWF 2018
OMIA 001056-9823Von Willebrand disease, genericSus scrofapig
OMIA 001401-9823Waardenburg syndrome, type 2ASus scrofapig MITF 2016
OMIA 001061-9823WattlesSus scrofapig
OMIA 001070-9823WhorlSus scrofapig
OMIA 001142-9823Wilms tumourSus scrofapig
OMIA 001071-9823Wilson diseaseSus scrofapig
OMIA 001256-9823Woolly hairSus scrofapig
OMIA 000901-9823XX testicular DSD (Disorder of Sexual Development)Sus scrofapig
OMIA 001079-9823Yellow fatSus scrofapig