OMIM Gene/Loci: 1 - 10 of 241 on Chromosome 18 (All Entries)
| Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name | Gene/Locus MIM number |
Phenotype | Phenotype MIM number |
Inheritance | Pheno map key |
Comments | Mouse symbol (from MGI) |
|---|---|---|---|---|---|---|---|---|---|
|
18:0-15,400,000
18p11.3-p11.2 |
AA1 | Alopecia areata 1 | 104000 | Alopecia areata 1 | 104000 | Multifactorial | 2 | max lod at D18S967 | |
|
18:0-18,500,000
18p |
DEL18p, C18DELp | Chromosome 18p deletion syndrome | 146390 | Chromosome 18p deletion syndrome | 146390 | Autosomal dominant | 4 | ||
|
18:0-7,200,000
18p11.32-p11.31 |
DFNB46 | Deafness, neurosensory, autosomal recessive 46 | 609647 | Deafness, autosomal recessive 46 | 609647 | Autosomal recessive | 2 | between D18S59 and D18S391 | |
|
18:0-18,500,000
18p11 |
DYT15 | Dystonia-15, myoclonic | 607488 | Dystonia-15, myoclonic | 607488 | Autosomal dominant | 2 | ||
|
18:0-18,500,000
18p |
DYT7 | Dystonia-7 (torsion dystonia, adult-onset, focal) | 602124 | Dystonia-7, torsion | 602124 | Autosomal dominant | 2 | ||
|
18:0-15,400,000
18pter-p11.21 |
ERV1 | Oncogene ERV1; endogenous retrovirus-1 | 131150 | ||||||
|
18:0-18,500,000
18p11 |
IBD21 | Inflammatory bowel disease 21 | 612354 | {Inflammatory bowel disease 21} | 612354 | Autosomal dominant | 2 | associated with rs2542151 | |
|
18:0-18,500,000
18p |
MAFD1, BPAD, MD1 | Major affective disorder 1 | 125480 | {Major affective disorder 1} | 125480 | Autosomal dominant | 2 | ?also 18q | |
|
18:0-7,200,000
18p11.3 |
MRT19 | Mental retardation, autosomal recessive 19 | 614343 | Mental retardation, autosomal recessive 19 | 614343 | Autosomal recessive | 2 | between rs4606805 and rs1787846 | |
|
18:0-7,200,000
18p11.3 |
POROK6, DSAP4 | Porokeratosis 6 | 612353 | Porokeratosis 6, multiple types | 612353 | Autosomal dominant | 2 | between telomere and D18S391 |