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) |
---|---|---|---|---|---|---|---|---|---|
6:15,246,069-15,522,042
6p22.3 |
JARID2, JMJ, DIDDF | Jumonji and AT-rich interaction domain containing 2 | 601594 | Developmental delay with variable intellectual disability and dysmorphic facies | 620098 | Autosomal dominant | 3 | Jarid2 | |
6:15,522,807-15,663,058
6p22.3 |
DTNBP1, HPS7 | Dystrobrevin-binding protein 1 (dysbindin) | 607145 | Hermansky-Pudlak syndrome 7 | 614076 | Autosomal recessive | 3 | Dtnbp1 | |
6:16,129,086-16,163,887
6p22.3 |
MYLIP, MIR | Myosin regulatory light chain-interacting protein | 610082 | Mylip | |||||
6:16,238,587-16,295,549
6p22.3 |
GMPR, GMPR1 | Guanosine monophosphate reductase | 139265 | Gmpr | |||||
6:16,299,112-16,761,460
6p22.3 |
ATXN1, ATX1, SCA1 | Ataxin-1 | 601556 | Spinocerebellar ataxia 1 | 164400 | Autosomal dominant | 3 | Atxn1 | |
6:17,281,361-17,293,871
6p22.3 |
RBM24, RNPC6 | RNA-binding motif protein 24 | 617603 | Rbm24 | |||||
6:17,393,595-17,557,780
6p22.3 |
CAP2, CMD2I | Cyclase-associated actin cytoskeleton regulatory protein 2 | 618385 | Cardiomyopathy, dilated, 2I | 620462 | Autosomal recessive | 3 | Cap2 | |
6:17,600,302-17,611,715
6p22.3 |
FAM8A1 | Family with sequence similarity 8, member A1 | 618409 | Fam8a1 | |||||
6:17,615,037-17,706,925
6p22.3 |
NUP153 | Nucleoporin, 153kD | 603948 | Nup153 | |||||
6:17,759,126-17,987,635
6p22.3 |
KIF13A | Kinesin family member 13A | 605433 | Kif13a |