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Link to this search: https://omia.org/results/?search_type=advanced&gb_species_id=9823&singlelocus=yes&defect=yes&result_type=gene
90 gene records found |
[show instead phene records] |
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| Gene Symbol | Gene Description | Species Scientific Name | Species Common Name | Gene Type |
|---|---|---|---|---|
| ABCA12 | Sus scrofa | pig | protein-coding | |
| ANTXR1 | anthrax toxin receptor 1 | Sus scrofa | pig | protein-coding |
| APC | adenomatous polyposis coli | Sus scrofa | pig | protein-coding |
| APP | amyloid beta (A4) precursor protein | Sus scrofa | pig | protein-coding |
| ASGR1 | asialoglycoprotein receptor 1 | Sus scrofa | pig | protein-coding |
| ATM | ATM serine/threonine kinase | Sus scrofa | pig | protein-coding |
| B2M | beta-2-microglobulin | Sus scrofa | pig | protein-coding |
| BBS9 | Bardet-Biedl syndrome 9 | Sus scrofa | pig | protein-coding |
| BMP15 | bone morphogenetic protein 15 | Sus scrofa | pig | protein-coding |
| BMPER | BMP binding endothelial regulator | Sus scrofa | pig | protein-coding |
| BOLL | boule-like RNA-binding protein | Sus scrofa | pig | protein-coding |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Sus scrofa | pig | protein-coding |
| CFH | complement factor H | Sus scrofa | pig | protein-coding |
| CFTR | cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | Sus scrofa | pig | protein-coding |
| CLCN1 | chloride channel, voltage-sensitive 1 | Sus scrofa | pig | protein-coding |
| CLN3 | CLN3 lysosomal/endosomal transmembrane protein, battenin | Sus scrofa | pig | protein-coding |
| COL10A1 | collagen, type X, alpha 1 | Sus scrofa | pig | protein-coding |
| COL2A1 | collagen, type II, alpha 1 | Sus scrofa | pig | protein-coding |
| CYP27B1 | 25-hydroxyvitamin D3 1alpha-hydroxylase | Sus scrofa | pig | protein-coding |
| DAZL | deleted in azoospermia-like | Sus scrofa | pig | protein-coding |
| DCLRE1C | DNA cross-link repair 1C | Sus scrofa | pig | protein-coding |
| DMD | dystrophin | Sus scrofa | pig | protein-coding |
| DNAH17 | Sus scrofa | pig | protein-coding | |
| DNAI1 | dynein axonemal intermediate chain 1 | Sus scrofa | pig | protein-coding |
| DUOX2 | dual oxidase 2 | Sus scrofa | pig | protein-coding |
| FAH | fumarylacetoacetate hydrolase (fumarylacetoacetase) | Sus scrofa | pig | protein-coding |
| FBN1 | fibrillin 1 | Sus scrofa | pig | protein-coding |
| FUT1 | fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) | Sus scrofa | pig | protein-coding |
| GHR | growth hormone receptor | Sus scrofa | pig | protein-coding |
| GIPR | gastric inhibitory polypeptide receptor | Sus scrofa | pig | protein-coding |
| GJB2 | gap junction protein beta 2 | Sus scrofa | pig | protein-coding |
| GUCY2D | Sus scrofa | pig | protein-coding | |
| GULO | gulonolactone (L-) oxidase | Sus scrofa | pig | protein-coding |
| HEXA | hexosaminidase A (alpha polypeptide) | Sus scrofa | pig | protein-coding |
| HNF1A | HNF1 homeobox A | Homo sapiens | human | protein-coding |
| HOXA1 | homeobox A1 | Sus scrofa | pig | protein-coding |
| HOXC13 | homeobox C13 | Sus scrofa | pig | protein-coding |
| HR | hair growth associated | Sus scrofa | pig | protein-coding |
| HTT | huntingtin | Sus scrofa | pig | protein-coding |
| IAPP | islet amyloid polypeptide | Homo sapiens | human | protein-coding |
| IL2RG | interleukin 2 receptor, gamma | Sus scrofa | pig | protein-coding |
| KIF21A | kinesin family member 21A | Sus scrofa | pig | protein-coding |
| KISS1 | KiSS-1 metastasis-suppressor | Sus scrofa | pig | protein-coding |
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Sus scrofa | pig | protein-coding |
| LDLR | low density lipoprotein receptor | Sus scrofa | pig | protein-coding |
| LMNA | lamin A/C | Sus scrofa | pig | protein-coding |
| MIR137 | microRNA mir-137 | Sus scrofa | pig | protein-coding |
| MITF | microphthalmia-associated transcription factor | Sus scrofa | pig | protein-coding |
| MSTN | myostatin | Sus scrofa | pig | protein-coding |
| MYH7 | myosin, heavy chain 7, cardiac muscle, beta | Sus scrofa | pig | protein-coding |
| MYO5B | myosin VB | Sus scrofa | pig | protein-coding |
| MYO7A | myosin VIIA | Sus scrofa | pig | protein-coding |
| NANOS2 | nanos homolog 2 (Drosophila) | Sus scrofa | pig | protein-coding |
| NANOS3 | nanos homolog 3 (Drosophila) | Sus scrofa | pig | protein-coding |
| NF1 | neurofibromin 1 | Sus scrofa | pig | protein-coding |
| NLRP3 | NLR family, pyrin domain containing 3 | Sus scrofa | pig | protein-coding |
| OTC | ornithine carbamoyltransferase | Sus scrofa | pig | protein-coding |
| PAH | Sus scrofa | pig | protein-coding | |
| PDCD1 | programmed cell death 1 | Sus scrofa | pig | protein-coding |
| PDX1 | pancreatic and duodenal homeobox 1 | Sus scrofa | pig | protein-coding |
| PHKG1 | phosphorylase kinase, gamma 1 (muscle) | Sus scrofa | pig | protein-coding |
| PKD1 | polycystic kidney disease 1 (autosomal dominant) | Sus scrofa | pig | protein-coding |
| PKD2 | polycystic kidney disease 2 (autosomal dominant) | Sus scrofa | pig | protein-coding |
| PNKP | polynucleotide kinase 3'-phosphatase | Sus scrofa | pig | protein-coding |
| POLR1B | polymerase (RNA) I polypeptide B, 128kDa | Sus scrofa | pig | protein-coding |
| PRKAG3 | protein kinase, AMP-activated, gamma 3 non-catalytic subunit | Sus scrofa | pig | protein-coding |
| PRKN | parkin RBR E3 ubiquitin protein ligase | Sus scrofa | pig | protein-coding |
| PRM2 | protamine 2 | Bos taurus | taurine cattle | protein-coding |
| PSEN1 | presenilin 1 | Sus scrofa | pig | protein-coding |
| RAG1 | recombination activating gene 1 | Sus scrofa | pig | protein-coding |
| RAG2 | recombination activating gene 2 | Sus scrofa | pig | protein-coding |
| RBM20 | RNA binding motif protein 20 | Sus scrofa | pig | protein-coding |
| RHO | rhodopsin | Sus scrofa | pig | protein-coding |
| RUNX3 | runt-related transcription factor 3 | Sus scrofa | pig | protein-coding |
| RYR1 | ryanodine receptor 1 (skeletal) | Sus scrofa | pig | protein-coding |
| SAP130 | Sin3A-associated protein, 130kDa | Sus scrofa | pig | protein-coding |
| SOD1 | superoxide dismutase 1, soluble | Sus scrofa | pig | protein-coding |
| SOX10 | SRY (sex determining region Y)-box 10 | Sus scrofa | pig | protein-coding |
| SPEF2 | sperm flagellar 2 | Sus scrofa | pig | protein-coding |
| SPTBN4 | spectrin, beta, non-erythrocytic 4 | Sus scrofa | pig | protein-coding |
| SRY | sex determining region Y | Sus scrofa | pig | protein-coding |
| SURF1 | surfeit 1 | Sus scrofa | pig | protein-coding |
| TADA2A | transcriptional adaptor 2A | Sus scrofa | pig | protein-coding |
| TARDBP | TAR DNA binding protein | Sus scrofa | pig | protein-coding |
| TEX14 | testis expressed 14 | Sus scrofa | pig | protein-coding |
| TPH2 | tryptophan hydroxylase 2 | Sus scrofa | pig | protein-coding |
| TPP1 | tripeptidyl peptidase I | Sus scrofa | pig | protein-coding |
| TSC1 | tuberous sclerosis 1 | Sus scrofa | pig | protein-coding |
| URB1 | Sus scrofa | pig | protein-coding | |
| VWF | von Willebrand factor | Sus scrofa | pig | protein-coding |