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70 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 | 2024-09-28 |
| 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:001089-9823 | Blood group system ABO | Sus scrofa | pig | GGTA1 | 2001 | 2023-12-12 |
| OMIA:002477-9823 | Cardiovascular disease risk, ASGR1-related | Sus scrofa | pig | ASGR1 | 2021 | 2024-08-24 |
| OMIA:001249-9823 | Coat colour, brown, TYRP1-related | Sus scrofa | pig | TYRP1 | 2011 | 2022-11-23 |
| OMIA:000209-9823 | Coat colour, dominant white | Sus scrofa | pig | KIT | 1996 | 2022-11-23 |
| OMIA:001199-9823 | Coat colour, extension | Sus scrofa | pig | MC1R | 1998 | 2024-02-28 |
| OMIA:001743-9823 | Coat colour, patch | Sus scrofa | pig | KIT | 1998 | 2012-11-25 |
| OMIA:001216-9823 | Coat colour, roan | Sus scrofa | pig | KIT | 2011 | 2011-12-09 |
| OMIA:001745-9823 | Coat colour, white belt, KIT-related | Sus scrofa | pig | KIT | 2012 | 2021-02-24 |
| 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:002878-9823 | Diabetes mellitus, HNF1A-related | Sus scrofa | pig | HNF1A | 2009 | 2024-08-26 |
| OMIA:001718-9823 | Dwarfism, Schmid metaphyseal chondrodysplasia | Sus scrofa | pig | COL10A1 | 2000 | 2012-09-17 |
| OMIA:000319-9823 | Ears, folded (drop vs prick) | Sus scrofa | pig | MSRB3 | 2018 | 2020-04-19 |
| 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:002063-9823 | Hyperlipidaemia/atherosclerosis, APOE-related | Sus scrofa | pig | APOE | 2017 | 2023-12-18 |
| 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:002812-9823 | LGALS12 deficiency | Sus scrofa | pig | LGALS12 | 2023 | 2024-01-15 |
| OMIA:002886-9823 | Long QT syndrome, CACNA1C-related | Sus scrofa | pig | CACNA1C | 2023 | 2024-09-05 |
| 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:002468-9823 | Muscle growth, ZBED6-related | Sus scrofa | pig | ZBED6 | 2021 | 2023-12-10 |
| OMIA:001888-9823 | Muscular dystrophy, Becker type | Sus scrofa | pig | DMD | 2012 | 2024-09-06 |
| OMIA:001081-9823 | Muscular dystrophy, Duchenne type | Sus scrofa | pig | DMD | 2013 | 2023-12-12 |
| OMIA:000683-9823 | Muscular hypertrophy (double muscling) | Sus scrofa | pig | MSTN | 2008 | 2024-04-08 |
| OMIA:002666-9823 | Muscular hypertrophy, TRIM63-related | Sus scrofa | pig | TRIM63 | 2023 | 2023-12-18 |
| 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:002594-9823 | N-acetyl-galactosamine, reduced intestinal concentration | Sus scrofa | pig | ABO | 2022 | 2022-11-15 |
| 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:002488-9823 | Parkinson disease, PARK7-related | Sus scrofa | pig | PARK7 | 2014 | 2023-12-18 |
| 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 |