Gene Map - Chromosome: 14

OMIM Gene/Loci: 451 - 460 of 618 on Chromosome 14 (All Entries)

Show 100 |

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

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 451 - 460 of 618 on Chromosome 14 (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)
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
14:91,271,323-91,417,820 14q32.11-q32.12	CCDC88C, HKRP2, DAPLE, KIAA1509, HYC1, SCA40	Coiled-coil domain-containing protein 88C	611204	Hydrocephalus, congenital, 1	236600	Autosomal recessive	3	mutation identified in 1 SCA40 family	Ccdc88c
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
14:91,965,991-92,040,059 14q32.12	TRIP11, TRIP230, CEV14, ACG1A, ODCD1	Thyroid hormone receptor interactor 11	604505	Odontochondrodysplasia 1	184260	Autosomal recessive	3		Trip11

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Printed: Aug. 31, 2024