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) |
---|---|---|---|---|---|---|---|---|---|
14:90,524,564-90,816,430
14q32.11 |
TTC7B | Tetratricopeptide repeat domain-containing protein 7B | 620060 | Ttc7b | |||||
14:90,847,861-91,060,641
14q32.11 |
RPS6KA5, MSK1 | Ribosomal protein S6 kinase A5 | 603607 | Rps6ka5 | |||||
14:91,060,333-91,225,632
14q32.11 |
DGLUCY | D-glutamate cyclase | 620716 | Dglucy | |||||
14:91,232,532-91,270,790
14q32.11 |
GPR68, OGR1, AI2A6 | G protein-coupled receptor 68 | 601404 | Amelogenesis imperfecta, hypomaturation type, IIA6 | 617217 | Autosomal recessive | 3 | Gpr68 | |
14:91,271,323-91,417,820
14q32.11-q32.12 |
CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40 | Coiled-coil domain-containing protein 88C | 611204 | ?Spinocerebellar ataxia 40 | 616053 | Autosomal dominant | 3 | mutation identified in 1 SCA40 family | Ccdc88c |
Hydrocephalus, congenital, 1 | 236600 | Autosomal recessive | 3 | ||||||
14:91,457,508-91,510,554
14q32.12 |
PPP4R3A, SMEK1, PP4R3A, KIAA2010 | Protein phosphatase 4, regulatory subunit 3, alpha | 610351 | Ppp4r3a | |||||
14:91,580,698-91,732,086
14q32.12 |
CATSPERB, C14orf161 | Cation channel, sperm-associated, beta | 611169 | Catsperb | |||||
14:91,779,746-91,867,536
14q32.12 |
TC2N, TAC2N | Tandem C2 domains protein, nuclear | 619305 | Tc2n | |||||
14:91,869,411-91,947,694
14q32.12 |
FBLN5, ARMD3, ADCL2, ARCL1A, CMT1H | Fibulin 5 | 604580 | ?Cutis laxa, autosomal dominant 2 | 614434 | Autosomal dominant | 3 | mutation identified in 1 ADCL2 patient | Fbln5 |
Charcot-Marie-Tooth disease, demyelinating, type 1H | 619764 | Autosomal dominant | 3 | ||||||
Cutis laxa, autosomal recessive, type IA | 219100 | Autosomal recessive | 3 | ||||||
Macular degeneration, age-related, 3 | 608895 | Autosomal dominant | 3 | ||||||
14:91,965,991-92,040,059
14q32.12 |
TRIP11, TRIP230, CEV14, ACG1A, ODCD1 | Thyroid hormone receptor interactor 11 | 604505 | Achondrogenesis, type IA | 200600 | Autosomal recessive | 3 | Trip11 | |
Odontochondrodysplasia 1 | 184260 | Autosomal recessive | 3 |