Gene |
Chromosome |
Location |
Syndrome |
Category |
JAK2 | 9 | p24.1 | Crohn Disease | Irritable Bowel Disorders | |
JAM3 | 11 | q25 | Hemorrhagic destruction of the brain with cataracts (HDBSCC) | Cataracts | |
JBTS1 | 9 | q34.3 | JOUBERT SYNDROME 1 | Autism spectrum | |
JDVS | 17 | q23.2 | JANSEN-DE VRIES SYNDROME | Autism spectrum | |
JMJD1C | 10 | q21.3 | JUMONJI DOMAIN-CONTAINING PROTEIN 1C | Autism spectrum | |
JPH3 | 16 | q24.2 | Huntington disease-like syndrome type 2 | Huntington`s disease spectrum | |
JUP | 17 | q21 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
JUP | 17 | q21.2 | LCEB lethal congenital epidermolysis bullosa | Alopecia | |