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) |
---|---|---|---|---|---|---|---|---|---|
22:25,500,001-31,800,000
22q12.1-q12.2 |
ITS | Insulinoma tumor suppressor gene locus | 606960 | Insulinoma | 1 | ||||
22:25,500,001-37,200,000
22q12 |
KAZA1 | Kala-azar (visceral leishmaniasis), susceptibility to, 1 | 608207 | {Kala-azar, susceptibility to, 1} | 608207 | 2 | |||
22:25,500,001-37,200,000
22q12 |
SQTL2 | Smoking as a quantitative trait locus 2 | 611004 | {Smoking as a quantitative trait locus 2} | 611004 | 2 | max lod at D22S315 | ||
22:25,564,675-25,729,294
22q12.1 |
ADRBK2, BARK2, GRK3 | Adrenergic, beta, receptor kinase-2 | 109636 | Grk3 | |||||
22:25,742,188-26,063,847
22q12.1 |
MYO18B, KFS4 | Myosin XVIIIB | 607295 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | 616549 | Autosomal recessive | 3 | Myo18b | |
22:26,169,462-26,383,596
22q12.1 |
SEZ6L | Seizure-related 6-like | 607021 | Sez6l | |||||
22:26,443,109-26,483,863
22q12.1 |
HPS4 | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | 606682 | Hermansky-Pudlak syndrome 4 | 614073 | Autosomal recessive | 3 | Hps4 | |
22:26,483,877-26,494,658
22q12.1 |
SRRD | SRR1 domain-containing protein | 602254 | Srrd | |||||
22:26,491,240-26,512,473
22q12.1 |
TFIP11, TIP39, NTR1 | Tuftelin-interacting protein 11 | 612747 | Tfip11 | |||||
22:26,521,996-26,590,132
22q12.1 |
TPST2 | Tyrosylprotein phosphotransferase 2 | 603126 | Tpst2 |