| Gene |
Chromosome |
Location |
Syndrome |
Category |
| UBA1 | 23 | p11.3 | Arthrogryposis - other | Arthrogryposis spectrum | |
| UBB | 17 | p11.2-12 | Alzheimer - late onset | Alzheimer Syndrome | |
| UBE3A | 15 | q11-q13 | Angelman`s Syndrome | Autism spectrum | |
| UBE3A | 15 | q11.2 | Microcephaly - other | Microcephaly | |
| UBE3B | 12 | q24.11 | Microcephaly - other | Microcephaly | |
| UBN2 | 7 | q34 | Autism 18 (AUTS18) | Autism spectrum | |
| UBQLN2 | 23 | p11.21 | ALS | ALS - amyotrophic lateral sclerosis | |
| UCHL1 | 4 | p13 | Parkinson disease - other |
Parkinsonism | |
| UCP2 | 11 | q13.4 | Congenital hyperinsulinism | Diabetes | |
| UGT2B15 | 4 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| UGT2B17 | 4 | q13.2 | Autism 18 (AUTS18) | Autism spectrum | |
| UNC45B | 17 | q12 | Cataract 43 (CTRCT43) | Cataracts | |
| UNC93B1 | 11 | q13.2 | Herpes simplex encephalitis 1 (HSE1) | Encephalitis | |
| up to 6 | 15 | q13.3 | 15q13.3 microdeletion syndrome | Autism spectrum | |
| UPB1 | 22 | q11.2 | Beta-ureidopropionase deficiency | Microcephaly | |
| UPF3B | 23 | q24 | Mental retardation X-linked syndromic 14 (MRXS14) | Autism spectrum | |
| UQCC2 | 6 | p21.31 | Mitochondrial complex III deficiency nuclear 7 (MC3DN7) | Autism spectrum | |
| USF1 | 1 | q23.3 | Hyperlipidemia combined 1 | Hyperlipidemia | |