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109 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 2023-12-18
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 2023-12-18
OMIA:002538-9823 Alzheimer disease, APP-related Sus scrofa pig APP 2009 2023-12-18
OMIA:002493-9823 Alzheimer disease, PSEN1-related Sus scrofa pig PSEN1 2013 2023-12-18
OMIA:000587-9823 Amelia Sus scrofa pig 2023-08-28
OMIA:002491-9823 Amyotrophic lateral sclerosis, SOD1-related Sus scrofa pig 2023-12-18
OMIA:002492-9823 Amyotrophic lateral sclerosis, TARDBP-related Sus scrofa pig 2023-12-18
OMIA:001465-9823 Arthrogryposis multiplex congenita, generic Sus scrofa pig 2020-07-24
OMIA:002283-9823 Arthrogryposis multiplex congenita, KIF21A-related Sus scrofa pig KIF21A 2020 2020-07-24
OMIA:002044-9823 Ataxia telangiectasia Sus scrofa pig 2023-12-18
OMIA:001091-9823 Ataxia, progressive Sus scrofa pig 2009-12-01
OMIA:002011-9823 B-cell deficiency Sus scrofa pig 2023-12-18
OMIA:002430-9823 Beta-2-microglobulin deficiency Sus scrofa pig 2023-12-18
OMIA:002054-9823 Cancer, RUNX-related Sus scrofa pig 2023-12-18
OMIA:002212-9823 Cardiomyopathy, hypertrophic, MYH7-related Sus scrofa pig 2023-12-10
OMIA:002477-9823 Cardiovascular disease risk, ASGR1-related Sus scrofa pig ASGR1 2021 2023-12-10
OMIA:002464-9823 Cryopyrin-associated periodic syndrome, NLRP3-related Sus scrofa pig NLRP3 2020 2023-12-10
OMIA:001794-9823 Cystic fibrosis Sus scrofa pig 2023-12-18
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 2023-12-18
OMIA:000284-9823 Diabetes mellitus, type II Sus scrofa pig 2024-02-08
OMIA:001323-9823 Dwarfism, GHR-related Sus scrofa pig 2023-12-18
OMIA:001718-9823 Dwarfism, Schmid metaphyseal chondrodysplasia Sus scrofa pig COL10A1 2000 2012-09-17
OMIA:002157-9823 Ectodermal dysplasia-9 Sus scrofa pig HOXC13 2017 2023-12-10
OMIA:001916-9823 Familial adenomatous polyposis Sus scrofa pig 2023-12-18
OMIA:002306-9823 Fecundity, BMP15-related Sus scrofa pig BMP15 2021 2021-01-10
OMIA:000403-9823 Gangliosidosis, GM2, generic 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 2023-12-18
OMIA:000437-9823 Haemophilia A Sus scrofa pig 2021-06-25
OMIA:000438-9823 Haemophilia B Sus scrofa pig 2023-12-10
OMIA:002059-9823 Haplotype with homozygous deficiency 8-2026 Sus scrofa pig 2021-08-24
OMIA:002184-9823 Haplotype with homozygous deficiency LA4 Sus scrofa pig 2021-08-24
OMIA:002376-9823 Heart defect, congenital, SAP130-related Sus scrofa pig 2023-12-18
OMIA:000472-9823 Hind limb paralysis Sus scrofa pig 2005-09-06
OMIA:000499-9823 Hypercholesterolaemia Sus scrofa pig LDLR 1998 2024-01-17
OMIA:002619-9823 Hypogonadotropic hypogonadism, KISS1-related Sus scrofa pig KISS1 2023 2023-12-18
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:002229-9823 Hypotrichosis, HR-related Sus scrofa pig 2023-12-18
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 2023-12-10
OMIA:000576-9823 Knobbed acrosome Sus scrofa pig BOLL 2020 2020-10-26
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 2023-12-18
OMIA:000615-9823 Lymphosarcoma Sus scrofa pig 2005-09-06
OMIA:000621-9823 Malignant hyperthermia Sus scrofa pig RYR1 1991 2021-04-09
OMIA:000628-9823 Marfan syndrome Sus scrofa pig FBN1 2016 2023-12-10
OMIA:001085-9823 Meat quality (Rendement Napole) Sus scrofa pig PRKAG3 2000 2021-08-14
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 2023-12-18
OMIA:001888-9823 Muscular dystrophy, Becker type Sus scrofa pig DMD 2012 2024-01-17
OMIA:001081-9823 Muscular dystrophy, Duchenne type Sus scrofa pig DMD 2013 2023-12-12
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:001088-9823 Neonatal diarrhoea, Escherichia coli K88/F4, resistance/susceptibility to Sus scrofa pig 2023-10-16
OMIA:002241-9823 Neurofibromatosis, type 1 Sus scrofa pig 2023-12-18
OMIA:001472-9823 Neuronal ceroid lipofuscinosis, 2 Sus scrofa pig TPP1 2022 2023-12-12
OMIA:002432-9823 Neuronal ceroid lipofuscinosis, 3 Sus scrofa pig 2023-12-18
OMIA:001236-9823 Nucleoside transport defect Sus scrofa pig 2005-09-06
OMIA:000862-9823 Oedema disease, Escherichia coli F18, resistance/susceptibility to Sus scrofa pig FUT1 2000 2023-10-16
OMIA:002383-9823 Ornithine transcarbamylase deficiency Sus scrofa pig OTC 2023-12-18
OMIA:001128-9823 Pale soft exudative meat Sus scrofa pig PHKG1 2014 2021-02-23
OMIA:002552-9823 Pancreatic agenesis, PDX1-related Sus scrofa pig 2023-12-18
OMIA:002748-9823 Parkinson disease, PRKN-related Sus scrofa pig 2023-12-18
OMIA:002293-9823 Phenylketonuria Sus scrofa pig 2023-12-18
OMIA:000807-9823 Polycystic kidney disease Sus scrofa pig PKD1 2015 2023-12-12
OMIA:002525-9823 Polycystic kidney disease-2 Sus scrofa pig PKD2 2022 2023-12-18
OMIA:000810-9823 Polydactyly Sus scrofa pig 2024-02-07
OMIA:001175-9823 Porphyria, congenital erythropoietic Sus scrofa pig 2005-09-06
OMIA:000815-9823 Porphyria, unclassified Sus scrofa pig 2005-09-06
OMIA:001213-9823 Premature senesence Sus scrofa pig LMNA 2019 2023-12-12
OMIA:000829-9823 Progressive myopathy Sus scrofa pig 2005-09-06
OMIA:000834-9823 Protamine-2 deficiency Sus scrofa pig 2005-09-06
OMIA:001257-9823 Renal cysts Sus scrofa pig 2005-09-06
OMIA:001929-9823 Retinal atrophy - Cone-rod dystrophy 6 Sus scrofa pig 2023-12-18
OMIA:001346-9823 Retinal atrophy, progressive, autosomal dominant, RHO-related Sus scrofa pig RHO 2012 2024-01-09
OMIA:001726-9823 Salmonella enterica serovar Choleraesuis (SC), resistance/susceptibility to Sus scrofa pig 2023-10-16
OMIA:001574-9823 Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive Sus scrofa pig 2023-12-18
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 2023-12-12
OMIA:002442-9823 Sperm flagella defect, DNAH17-related Sus scrofa pig DNAH17 2021 2021-09-28
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 2023-12-18
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 2023-12-10
OMIA:002311-9823 sterile, male, NANOS2-related Sus scrofa pig 2023-12-18
OMIA:002674-9823 sterile, NANOS3-related Sus scrofa pig 2023-12-18
OMIA:001685-9823 Stress syndrome, DMD-related Sus scrofa pig DMD 2012 2024-01-17
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:002427-9823 Tuberous sclerosis, TSC1-related Sus scrofa pig 2023-12-18
OMIA:002078-9823 Tyrosinaemia, type I Sus scrofa pig 2023-12-18
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 2023-12-10
OMIA:001401-9823 Waardenburg syndrome, type 2A Sus scrofa pig MITF 2016 2021-12-25
OMIA:001230-9823 XY sex reversal, SRY-related Sus scrofa pig SRY 2021 2023-12-18