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Link to this search: https://omia.org/results/?search_type=advanced&gb_species_id=9913&characterised=yes&defect=yes&singlelocus=yes&result_type=gene

187 gene records found

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Gene Symbol Gene Description Species Scientific Name Species Common Name Gene Type
ABCA12 ATP binding cassette subfamily A member 12 Bos taurus taurine cattle protein-coding
ABHD16B abhydrolase domain containing 16B Bos taurus taurine cattle protein-coding
ACAN aggrecan Bos taurus taurine cattle protein-coding
ACSL5 acyl-CoA synthetase long-chain family member 5 Bos taurus taurine cattle protein-coding
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 Bos taurus taurine cattle protein-coding
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 Bos taurus taurine cattle protein-coding
ADAMTSL3 ADAMTS like 3 Bos taurus taurine cattle protein-coding
ADAMTSL4 ADAMTS like 4 Bos taurus taurine cattle protein-coding
AGRN agrin Bos taurus taurine cattle protein-coding
AK9 adenylate kinase 9 Bos taurus taurine cattle protein-coding
ALX4 ALX homeobox 4 Bos taurus taurine cattle protein-coding
ANXA10 annexin A10 Bos taurus taurine cattle protein-coding
APAF1 apoptotic peptidase activating factor 1 Bos taurus taurine cattle protein-coding
APOB apolipoprotein B Bos taurus taurine cattle protein-coding
ARMC3 armadillo repeat containing 3 Bos taurus taurine cattle protein-coding
ASS1 argininosuccinate synthase 1 Bos taurus taurine cattle protein-coding
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 Bos taurus taurine cattle protein-coding
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide Bos taurus taurine cattle protein-coding
BTBD9 BTB (POZ) domain containing 9 Bos taurus taurine cattle protein-coding
CACNA1S calcium voltage-gated channel subunit alpha1 S Bos taurus taurine cattle protein-coding
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Bos taurus taurine cattle protein-coding
CCDC189 coiled-coil domain containing 189 Bos taurus taurine cattle protein-coding
CDC45 cell division cycle 45 Bos taurus taurine cattle protein-coding
CENPU centromere protein U Bos taurus taurine cattle protein-coding
CEP250 centrosomal protein 250kDa Bos taurus taurine cattle protein-coding
CHD7 chromodomain helicase DNA binding protein 7 Bos taurus taurine cattle protein-coding
CHRNB1 cholinergic receptor, nicotinic beta 1 Bos taurus taurine cattle protein-coding
CLCN7 chloride channel, voltage-sensitive 7 Bos taurus taurine cattle protein-coding
CLDN16 claudin 16 Bos taurus taurine cattle protein-coding
CLN3 ceroid-lipofuscinosis, neuronal 3 Bos taurus taurine cattle protein-coding
CLN5 ceroid-lipofuscinosis, neuronal 5 Bos taurus taurine cattle protein-coding
CNGB3 cyclic nucleotide gated channel beta 3 Bos taurus taurine cattle protein-coding
COL1A1 collagen type I alpha 1 Bos taurus taurine cattle protein-coding
COL2A1 collagen type II alpha 1 Bos taurus taurine cattle protein-coding
COL5A2 collagen type V alpha 2 Bos taurus taurine cattle protein-coding
COL6A3 collagen type VI alpha 3 Bos taurus taurine cattle protein-coding
COL7A1 collagen type VII alpha 1 Bos taurus taurine cattle protein-coding
CPAMD8 C3 and PZP-like, alpha-2-macroglobulin domain containing 8 Bos taurus taurine cattle protein-coding
CPT1C carnitine palmitoyltransferase 1C Bos taurus taurine cattle protein-coding
CSNK1G2 casein kinase 1 gamma 2 Bos taurus taurine cattle protein-coding
CWC15 CWC15 spliceosome-associated protein Bos taurus taurine cattle protein-coding
CYP26C1 cytochrome P450, family 26, subfamily C, polypeptide 1 Bos taurus taurine cattle protein-coding
CYP2B6 cytochrome P450 subfamily 2B Bos taurus taurine cattle protein-coding
DGKG diacylglycerol kinase gamma Bos taurus taurine cattle protein-coding
DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease Bos taurus taurine cattle protein-coding
DLX3 distal-less homeobox 3 Bos taurus taurine cattle protein-coding
DNAH8 dynein, axonemal, heavy chain 8 Bos taurus taurine cattle protein-coding
DSP desmoplakin Bos taurus taurine cattle protein-coding
EDA ectodysplasin A Bos taurus taurine cattle protein-coding
EDAR ectodysplasin A receptor Bos taurus taurine cattle protein-coding
EDN2 endothelin 2 Bos taurus taurine cattle protein-coding
EVC2 Ellis van Creveld syndrome 2 Bos taurus taurine cattle protein-coding
EXOSC4 exosome component 4 Bos taurus taurine cattle protein-coding
F11 coagulation factor XI Bos taurus taurine cattle protein-coding
F13A1 coagulation factor XIII A chain Bos taurus taurine cattle protein-coding
F8 coagulation factor VIII Bos taurus taurine cattle protein-coding
FA2H fatty acid 2-hydroxylase Bos taurus taurine cattle protein-coding
FAM189A1 family with sequence similarity 189 member A1 Bos taurus taurine cattle protein-coding
FANCI Fanconi anemia complementation group I Bos taurus taurine cattle protein-coding
FBN1 fibrillin 1 Bos taurus taurine cattle protein-coding
FECH ferrochelatase Bos taurus taurine cattle protein-coding
FGD3 FYVE, RhoGEF and PH domain containing 3 Bos taurus taurine cattle protein-coding
FGD4 FYVE, RhoGEF and PH domain containing 4 Bos taurus taurine cattle protein-coding
FGFR2 fibroblast growth factor receptor 2 Bos taurus taurine cattle protein-coding
FGFR3 fibroblast growth factor receptor 3 Bos taurus taurine cattle protein-coding
FMO3 flavin containing monooxygenase 3 Bos taurus taurine cattle protein-coding
GAA glucosidase, alpha; acid Bos taurus taurine cattle protein-coding
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 Bos taurus taurine cattle protein-coding
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Bos taurus taurine cattle protein-coding
GATA6 GATA binding protein 6 Bos taurus taurine cattle protein-coding
GCK glucokinase Bos taurus taurine cattle protein-coding
GFRA1 GDNF family receptor alpha 1 Bos taurus taurine cattle protein-coding
GLO1 glyoxalase I Bos taurus taurine cattle protein-coding
GLRA1 glycine receptor alpha 1 Bos taurus taurine cattle protein-coding
GON4L gon-4-like (C. elegans) Bos taurus taurine cattle protein-coding
HEPHL1 hephaestin like 1 Bos taurus taurine cattle protein-coding
HMX1 H6 family homeobox 1 Bos taurus taurine cattle protein-coding
HSPA1A heat shock 70kDa protein 1A Bos taurus taurine cattle protein-coding
IARS isoleucyl-tRNA synthetase Bos taurus taurine cattle protein-coding
IFT80 intraflagellar transport 80 Bos taurus taurine cattle protein-coding
IL17RA interleukin 17 receptor A Bos taurus taurine cattle protein-coding
ITGA3 integrin subunit alpha 3 Bos taurus taurine cattle protein-coding
ITGA6 integrin subunit alpha 6 Bos taurus taurine cattle protein-coding
ITGB2 integrin subunit beta 2 Bos taurus taurine cattle protein-coding
ITGB4 integrin subunit beta 4 Bos taurus taurine cattle protein-coding
ITGB7 integrin subunit beta 7 Bos taurus taurine cattle protein-coding
KCNG1 potassium channel, voltage gated modifier subfamily G, member 1 Bos taurus taurine cattle protein-coding
KDM2B lysine (K)-specific demethylase 2B Bos taurus taurine cattle protein-coding
KDSR 3-ketodihydrosphingosine reductase Bos taurus taurine cattle protein-coding
KIF1C kinesin family member 1C Bos taurus taurine cattle protein-coding
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 Bos taurus taurine cattle protein-coding
KIT KIT proto-oncogene receptor tyrosine kinase Bos taurus taurine cattle protein-coding
KRT5 keratin 5, type II Bos taurus taurine cattle protein-coding
KRT71 keratin 71, type II Bos taurus taurine cattle protein-coding
LAMA3 laminin, alpha 3 Bos taurus taurine cattle protein-coding
LAMB1 laminin subunit beta 1 Bos taurus taurine cattle protein-coding
LAMC2 laminin subunit gamma 2 Bos taurus taurine cattle protein-coding
LIG3 ligase III, DNA, ATP-dependent Bos taurus taurine cattle protein-coding
LRP4 LDL receptor related protein 4 Bos taurus taurine cattle protein-coding
LYST lysosomal trafficking regulator Bos taurus taurine cattle protein-coding
MAN2B1 mannosidase alpha class 2B member 1 Bos taurus taurine cattle protein-coding
MANBA mannosidase beta Bos taurus taurine cattle protein-coding
MAP2K2 mitogen-activated protein kinase kinase 2 Bos taurus taurine cattle protein-coding
MARS2 methionyl-tRNA synthetase 2, mitochondrial Bos taurus taurine cattle protein-coding
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) Bos taurus taurine cattle protein-coding
MED22 mediator complex subunit 22 Bos taurus taurine cattle protein-coding
MFN2 mitofusin 2 Bos taurus taurine cattle protein-coding
MIMT1 MER1 repeat containing imprinted transcript 1 (non-protein coding) Bos taurus taurine cattle ncRNA
MITF microphthalmia-associated transcription factor Bos taurus taurine cattle protein-coding
MOCOS molybdenum cofactor sulfurase Bos taurus taurine cattle protein-coding
MOCS1 molybdenum cofactor synthesis 1 Bos taurus taurine cattle protein-coding
MRC2 mannose receptor, C type 2 Bos taurus taurine cattle protein-coding
MRPL55 mitochondrial ribosomal protein L55 Bos taurus taurine cattle protein-coding
MSTN myostatin Bos taurus taurine cattle protein-coding
MYBPC1 myosin binding protein C, slow type Bos taurus taurine cattle protein-coding
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic Bos taurus taurine cattle protein-coding
MYH6 myosin, heavy chain 6, cardiac muscle, alpha Bos taurus taurine cattle protein-coding
NAGLU N-acetylglucosaminidase, alpha Bos taurus taurine cattle protein-coding
ND4L NADH dehydrogenase subunit 4L Bos taurus taurine cattle protein-coding
NHLRC2 NHL repeat containing 2 Bos taurus taurine cattle protein-coding
NID1 nidogen 1 Bos taurus taurine cattle protein-coding
NOA1A nitric oxide associated 1 A Bos taurus taurine cattle protein-coding
NPC1 Niemann-Pick disease, type C1 Bos taurus taurine cattle protein-coding
NUBPL nucleotide binding protein-like Bos taurus taurine cattle protein-coding
NUMB numb homolog (Drosophila) Bos taurus taurine cattle protein-coding
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1 Bos taurus taurine cattle protein-coding
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) Bos taurus taurine cattle protein-coding
PAEP progestagen-associated endometrial protein Bos taurus taurine cattle protein-coding
PCDH15 protocadherin-related 15 Bos taurus taurine cattle protein-coding
PFAS phosphoribosylformylglycinamidine synthase Bos taurus taurine cattle protein-coding
PIGH phosphatidylinositol glycan anchor biosynthesis class H Bos taurus taurine cattle protein-coding
PLD4 phospholipase D family member 4 Bos taurus taurine cattle protein-coding
PLP2 proteolipid protein 2 (colonic epithelium-enriched) Bos taurus taurine cattle protein-coding
PMEL premelanosome protein Bos taurus taurine cattle protein-coding
PNPLA8 patatin like phospholipase domain containing 8 Bos taurus taurine cattle protein-coding
POU5F1 POU class 5 homeobox 1 Bos taurus taurine cattle protein-coding
PPP1R13L protein phosphatase 1 regulatory subunit 13 like Bos taurus taurine cattle protein-coding
PRKG2 protein kinase cGMP-dependent 2 Bos taurus taurine cattle protein-coding
PRLR prolactin receptor Bos taurus taurine cattle protein-coding
PYGM phosphorylase, glycogen, muscle Bos taurus taurine cattle protein-coding
QRICH2 glutamine rich 2 Bos taurus taurine cattle protein-coding
RABGGTB Rab geranylgeranyltransferase beta subunit Bos taurus taurine cattle protein-coding
RASGRP2 RAS guanyl releasing protein 2 Bos taurus taurine cattle protein-coding
RFC5 replication factor C subunit 5 Bos taurus taurine cattle protein-coding
RIOX1 Bos taurus taurine cattle protein-coding
RNASEH2B ribonuclease H2 subunit B Bos taurus taurine cattle protein-coding
RNF11 ring finger protein 11 Bos taurus taurine cattle protein-coding
RNF20 ring finger protein 20 Bos taurus taurine cattle protein-coding
RP1 retinitis pigmentosa 1 (autosomal dominant) Bos taurus taurine cattle protein-coding
RPAP2 RNA polymerase II associated protein 2 Bos taurus taurine cattle protein-coding
RPIA ribose 5-phosphate isomerase A Bos taurus taurine cattle protein-coding
RSPO2 R-spondin 2 Bos taurus taurine cattle protein-coding
SDE2 SDE2 telomere maintenance homolog (S. pombe) Bos taurus taurine cattle protein-coding
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 Bos taurus taurine cattle protein-coding
SLC25A46 solute carrier family 25 member 46 Bos taurus taurine cattle protein-coding
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2 Bos taurus taurine cattle protein-coding
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 Bos taurus taurine cattle protein-coding
SLC37A2 solute carrier family 37 (glucose-6-phosphate transporter), member 2 Bos taurus taurine cattle protein-coding
SLC39A4 solute carrier family 39 (zinc transporter), member 4 Bos taurus taurine cattle protein-coding
SLC45A2 solute carrier family 45 member 2 Bos taurus taurine cattle protein-coding
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) Bos taurus taurine cattle protein-coding
SLC4A2 solute carrier family 4 (anion exchanger), member 2 Bos taurus taurine cattle protein-coding
SLC6A5 solute carrier family 6 member 5 Bos taurus taurine cattle protein-coding
SMC2 structural maintenance of chromosomes 2 Bos taurus taurine cattle protein-coding
SNAPC4 small nuclear RNA activating complex polypeptide 4 Bos taurus taurine cattle protein-coding
SOWAHB sosondowah ankyrin repeat domain family member B Bos taurus taurine cattle protein-coding
SPAST spastin Bos taurus taurine cattle protein-coding
SRY sex determining region Y Bos taurus taurine cattle protein-coding
SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone Bos taurus taurine cattle protein-coding
SUOX sulfite oxidase Bos taurus taurine cattle protein-coding
TBXT T-box transcription factor T Bos taurus taurine cattle protein-coding
TFB1M transcription factor B1, mitochondrial Bos taurus taurine cattle protein-coding
TG thyroglobulin Bos taurus taurine cattle protein-coding
TMEM95 transmembrane protein 95 Bos taurus taurine cattle protein-coding
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) Bos taurus taurine cattle protein-coding
TTF1 transcription termination factor, RNA polymerase I Bos taurus taurine cattle protein-coding
TUBD1 tubulin delta 1 Bos taurus taurine cattle protein-coding
TUBGCP5 tubulin gamma complex associated protein 5 Bos taurus taurine cattle protein-coding
TWIST1 twist family bHLH transcription factor 1 Bos taurus taurine cattle protein-coding
TYR tyrosinase Bos taurus taurine cattle protein-coding
UBE3B ubiquitin protein ligase E3B Bos taurus taurine cattle protein-coding
UCHL1 ubiquitin C-terminal hydrolase L1 Bos taurus taurine cattle protein-coding
UMPS uridine monophosphate synthetase Bos taurus taurine cattle protein-coding
WFDC1 WAP four-disulfide core domain 1 Bos taurus taurine cattle protein-coding
WNT10B wingless-type MMTV integration site family member 10B Bos taurus taurine cattle protein-coding
ZEB2 zinc finger E-box binding homeobox 2 Bos taurus taurine cattle protein-coding
ZIC2 Zic family member 2 Bos taurus taurine cattle protein-coding