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112 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 002059-9823Abortion due to haplotype 8-2026Sus scrofapig 2021-08-24
OMIA 002184-9823Abortion due to haplotype LA4Sus scrofapig 2021-08-24
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 001465-9823Arthrogryposis multiplex congenita, genericSus scrofapig 2020-07-24
OMIA 002283-9823Arthrogryposis multiplex congenita, KIF21A-relatedSus scrofapig KIF21A 2020 2020-07-24
OMIA 002044-9823Ataxia telangiectasiaSus scrofapig 2016-10-17
OMIA 001091-9823Ataxia, progressiveSus scrofapig 2009-12-01
OMIA 002011-9823B-cell deficiencySus scrofapig 2016-05-05
OMIA 002430-9823Beta-2-microglobulin deficiencySus scrofapig 2021-09-18
OMIA 001089-9823Blood group system ABOSus scrofapig GGTA1 2001 2021-09-17
OMIA 000124-9823Blood group system FSus scrofapig 2020-05-15
OMIA 000127-9823Blood group system GSus scrofapig 2011-09-16
OMIA 000128-9823Blood group system HSus scrofapig 2011-09-16
OMIA 001250-9823Blood group system OSus scrofapig 2020-05-15
OMIA 002054-9823Cancer, RUNX-relatedSus scrofapig 2021-09-25
OMIA 002477-9823Cardiovascular disease risk, ASGR1-relatedSus scrofapig ASGR1 2021 2021-11-16
OMIA 002410-9823CMAH enzyme deficiencySus scrofapig 2021-09-17
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 2020-06-26
OMIA 000209-9823Coat colour, dominant whiteSus scrofapig KIT 1996 2020-03-26
OMIA 001199-9823Coat colour, extensionSus scrofapig MC1R 1998 2021-02-25
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 000200-9823Coat colours, genericSus scrofapig 2021-09-27
OMIA 001929-9823Cone-rod dystrophy 6Sus scrofapig 2021-07-14
OMIA 002464-9823Cryopyrin-associated periodic syndrome, NLRP3-relatedSus scrofapig NLRP3 2020 2021-10-26
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 000263-9823Degenerative myelopathySus scrofapig 2021-08-28
OMIA 000284-9823Diabetes mellitus, type IISus scrofapig 2021-06-25
OMIA 001323-9823Dwarfism, LaronSus scrofapig 2021-11-24
OMIA 001718-9823Dwarfism, Schmid metaphyseal chondrodysplasiaSus scrofapig COL10A1 2000 2012-09-17
OMIA 000319-9823Ears, folded (drop vs prick)Sus scrofapig MSRB3 2018 2020-04-19
OMIA 002157-9823Ectodermal dysplasia-9Sus scrofapig 2021-02-23
OMIA 001916-9823Familial adenomatous polyposisSus scrofapig 2017-08-08
OMIA 002306-9823Fecundity, BMP15-relatedSus scrofapig BMP15 2021 2021-01-10
OMIA 000403-9823Gangliosidosis, GM2, genericSus scrofapig 2005-09-06
OMIA 001461-9823Gangliosidosis, GM2, type I (B variant)Sus scrofapig HEXA 2021 2021-06-16
OMIA 000437-9823Haemophilia ASus scrofapig 2021-06-25
OMIA 000438-9823Haemophilia BSus scrofapig 2020-01-26
OMIA 002376-9823Heart defect, congenital, SAP130-relatedSus scrofapig 2021-08-11
OMIA 000472-9823Hind limb paralysisSus scrofapig 2005-09-06
OMIA 000499-9823HypercholesterolaemiaSus scrofapig LDLR 1998 2021-09-10
OMIA 002329-9823Hypercholesterolemia, PCSK9-relatedSus scrofapig 2021-04-20
OMIA 002063-9823Hyperlipidaemia/atherosclerosis, APOE-relatedSus scrofapig APOE 2017 2021-11-03
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 002229-9823Hypotrichosis, HR-relatedSus scrofapig 2021-08-30
OMIA 001458-9823Hypotrichosis, juvenile with age-dependent emphysemaSus scrofapig 2013-09-20
OMIA 001279-9823Hypotrichosis, recessiveSus scrofapig 2012-02-14
OMIA 002238-9823Ichthyosis, ABCA12-relatedSus scrofapig ABCA12 2019 2021-11-04
OMIA 000576-9823Knobbed acrosomeSus scrofapig BOLL 2020 2020-10-26
OMIA 002161-9823Leg weakness, MSTN-relatedSus scrofapig MSTN 2019 2019-02-01
OMIA 000587-9823LeglessSus scrofapig 2005-09-06
OMIA 000615-9823LymphosarcomaSus scrofapig 2005-09-06
OMIA 000621-9823Malignant hyperthermiaSus scrofapig RYR1 1991 2021-04-09
OMIA 001085-9823Meat quality (Rendement Napole)Sus scrofapig PRKAG3 2000 2021-08-14
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 002468-9823Muscle growth, ZBED6-relatedSus scrofapig ZBED6 2021 2021-11-03
OMIA 001081-9823Muscular dystrophy, Duchenne typeSus scrofapig 2021-04-09
OMIA 000683-9823Muscular hypertrophy (double muscling)Sus scrofapig MSTN 2008 2021-08-11
OMIA 002232-9823Myopathy, congenital, SPTBN4-relatedSus scrofapig SPTBN4 2019 2020-01-28
OMIA 000698-9823MyotoniaSus scrofapig CLCN1 2019 2021-10-19
OMIA 001088-9823Neonatal diarrhoea, K88/F4, resistance/susceptibility toSus scrofapig 2020-05-15
OMIA 002241-9823Neurofibromatosis, type 1Sus scrofapig 2021-10-19
OMIA 002432-9823Neuronal ceroid lipofuscinosis, 3Sus scrofapig 2021-09-24
OMIA 001236-9823Nucleoside transport defectSus scrofapig 2005-09-06
OMIA 002383-9823Ornithine transcarbamylase deficiencySus scrofapig OTC 2021-08-13
OMIA 001230-9823Ovotesticular DSD (Disorder of Sexual Development)Sus scrofapig 2021-01-28
OMIA 001128-9823Pale soft exudative meatSus scrofapig PHKG1 2014 2021-02-23
OMIA 002293-9823PhenylketonuriaSus scrofapig 2021-01-28
OMIA 000807-9823Polycystic kidney diseaseSus scrofapig 2020-07-16
OMIA 001175-9823Porphyria, congenital erythropoieticSus scrofapig 2005-09-06
OMIA 000815-9823Porphyria, unclassifiedSus scrofapig 2005-09-06
OMIA 000829-9823Progressive myopathySus scrofapig 2005-09-06
OMIA 000834-9823Protamine-2 deficiencySus scrofapig 2005-09-06
OMIA 001257-9823Renal cystsSus scrofapig 2005-09-06
OMIA 000862-9823Resistance/susceptibility to oedema disease (F18 receptor)Sus scrofapig FUT1 2000 2021-08-25
OMIA 001726-9823Resistance/susceptibility to Salmonella enterica serovar Choleraesuis (SC)Sus scrofapig 2020-05-15
OMIA 001413-9823Retinitis pigmentosaSus scrofapig 2018-04-19
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 2018-04-19
OMIA 002442-9823Sperm flagella defect, DNAH17-relatedSus scrofapig DNAH17 2021 2021-09-28
OMIA 002435-9823Sperm, short tail, SPEF2-relatedSus scrofapig SPEF2 2006 2021-09-27
OMIA 001673-9823Spermatogenic arrestSus scrofapig TEX14 2011 2011-12-09
OMIA 002311-9823sterile, male-NANOS2 relatedSus scrofapig 2021-02-18
OMIA 001685-9823Stress syndrome, DMD-relatedSus scrofapig DMD 2012 2021-07-10
OMIA 001200-9823Tremor, high-frequencySus scrofapig MYH7 2012 2012-11-23
OMIA 000770-9823Tremor, X-linkedSus scrofapig 2005-09-06
OMIA 002427-9823Tuberous sclerosis, TSC1-relatedSus scrofapig 2021-09-17
OMIA 002078-9823Tyrosinemia, type ISus scrofapig 2021-06-10
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 2005-09-06
OMIA 002453-9823Waardenburg syndrome, SOX10-relatedSus scrofapig SOX10 2016 2021-10-19
OMIA 001401-9823Waardenburg syndrome, type 2ASus scrofapig MITF 2016 2021-06-25