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53 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common Name Gene Year Key Mutation First Reported Date Last Modified
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: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:002283-9823 Arthrogryposis multiplex congenita, KIF21A-related Sus scrofa pig KIF21A 2020 2020-07-24
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:002148-9823 Deafness, bilateral, and vestibular dysfunction, MYO7A-related Sus scrofa pig MYO7A 2021 2021-05-26
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:002306-9823 Fecundity, BMP15-related Sus scrofa pig BMP15 2021 2021-01-10
OMIA:001461-9823 Gangliosidosis, GM2, type I (B variant) Sus scrofa pig HEXA 2021 2021-06-16
OMIA:000485-9823 Huntington disease Sus scrofa pig HTT 2001 2024-04-08
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: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: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: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:001472-9823 Neuronal ceroid lipofuscinosis, 2 Sus scrofa pig TPP1 2022 2023-12-12
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:002851-9823 PDCD1-deficiency Sus scrofa pig PDCD1 2024 2024-05-04
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:001213-9823 Premature senesence Sus scrofa pig LMNA 2019 2023-12-12
OMIA:001346-9823 Retinal atrophy, progressive, autosomal dominant, RHO-related Sus scrofa pig RHO 2012 2024-01-09
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: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:001673-9823 Spermatogenic arrest, TEX14-related Sus scrofa pig TEX14 2011 2011-12-09
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: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:001058-9823 Von Willebrand disease III Sus scrofa pig VWF 2018 2021-09-10
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