Bovine Genetic Disease Search

Frequency of carriers, disease mutant

Bovine Leucocyte Adhesion Deficiency Type 1 (BLAD) (ITGB2 gene) Holstein
Charcot-Marie-Tooth disease, FGD4-related (FGD4 gene) Holstein, Jersey
Chediak-Higashi Syndrome (LYST gene) Japanese Black, Wagyu
Cholesterol Deficiency, APOB-linked (Cholesterol deficiency, APOB) Holstein
Chondrodysplasia, EVC2-related (EVC2 gene) Japanese Brown, Tyrolian Grey, Wagyu
Citrullinemia (Citrullinemia, ASS1) Holstein
Cleft Palate, Limousine (MYH3 gene) Limousin
Complex vertebral malformation (CVM) (SLC35A3 gene) Holstein, Montbéliarde
Convulsions and ataxia (cerebellar abiotrophy), CACN1A1-related (CACN1A1 gene) Angus
Deficiency in Uridine Monophosphate Synthase (DUMPS) (UMPS gene) Holstein
Dilated cardiomyopathy (OPA3-related) (OPA3 gene) Holstein
Double-outlet right ventricle (DORV), NUMB-related (NUMB) Chianina
Epidermolysis bullosa, junctional, ITGA6-related (ITGA6 gene) Charolais
Factor XI Deficiency (Factor XI, F11 ) Holstein, Japanese Black, Sahiwal, Wagyu
Hemophilia A, F8-related (F8 gene) Fleckvieh, Japanese Brown, Wagyu
Lymphocyte intestinal retention defect, ITGB7-related ( ITGB7 gene) Holstein
Neuropathy with splayed forelimbs (JNS), UCHL1-related (UCHL1 gene) Jersey
Renal Dysplasia, CLDN16-related (CLDN16 gene) Japanese Black, Wagyu
Scurs, type 2, (possible abdominal hernia), TWIST1-related (TWIST1 gene) Charolais
Skeletal, cardiac and enteric dysplasia, MAP2K2-related (MAP2K2 gene) Romagnole
Spongiform encephalopathy (BSE), susceptibility (PRNP gene)
Syndactyly (mulefoot), LRP4-related (LRP4 gene) Angus, Holstein, Simmental
Waardenburg Syndrome, type 2A, MITF-related (MITF gene) Angus