Alternative names (1)
geneticCauseRandom triples
| Subject | Object |
|---|---|
| gptkb:golden_tiger | recessive gene |
| gptkb:Parkinson_Disease,_Juvenile | mutation in PARK2 gene |
| gptkb:CPVT | RYR2 gene mutation |
| gptkb:Zimmermann-Laband_syndrome_1 | KCNH1 gene mutation |
| gptkb:CPVT | CASQ2 gene mutation |
| gptkb:Prader-Willi_syndrome | paternal deletion of 15q11-q13 |
| gptkb:osteopetrosis | mutations in OSTM1 gene |
| gptkb:congenital_hyperinsulinism | GLUD1 gene mutation |
| gptkb:Coats_plus_syndrome_3 | mutation in STN1 gene |
| gptkb:osteopetrosis | mutations in TCIRG1 gene |
| gptkb:MOTA_syndrome | mutation in FREM1 gene |
| gptkb:Schöpf_syndrome | mutation in WNT10A gene |
| gptkb:osteopetrosis | mutations in LRP5 gene |
| gptkb:congenital_hyperinsulinism | GCK gene mutation |
| gptkb:OPMD | mutation in PABPN1 gene |
| gptkb:Immunodeficiency_with_Elevated_IgE | gptkb:STAT3_mutation |
| gptkb:WHIM_syndrome | mutation in CXCR4 gene |
| gptkb:osteopetrosis | mutations in SNX10 gene |
| gptkb:congenital_generalized_lipodystrophy_type_4 | CAVIN1 gene mutation |
| gptkb:Unverricht-Lundborg_Epilepsy | mutation in CSTB gene |