Gene Map - Chromosome: 18

OMIM Gene/Loci: 59 - 68 of 276 on Chromosome 18 (All Entries)

Show 100 |

| pter | « Towards pter | Towards qter » | qter

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)
18:11,882,622 18p11.21	MPPE1	Metallophosphoesterase 1	611900						Mppe1
18:11,981,507 18p11.21	IMPA2	Myo-inositol monophosphatase 2	605922						Impa2
18:12,254,361 18p11.21	CIDEA	Cell death-inducing DFFA-like effector A	604440						Cidea
18:12,307,669 18p11.21	TUBB6, FPVEPD	Tubulin, beta-6	615103	?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	617732	AD	3	mutation identified in 1 FPVEPD family	Tubb6
18:12,328,944 18p11.21	AFG3L2, SCA28, SPAX5, OPA12	AFG3-like matrix AAA peptidase, subunit 2	604581	Optic atrophy 12	618977	AD	3		Afg3l2
				Spastic ataxia 5, autosomal recessive	614487	AR	3
				Spinocerebellar ataxia 28	610246	AD	3
18:12,407,929 18p11.21	PRELID3A, SLMO1, C18orf43	PRELI domain-containing protein 3A	616545						Prelid3a
18:12,446,512 18p11.21	SPIRE1, KIAA1135	Spire-type actin nucleation factor 1	609216						Spire1
18:12,658,738 18p11.21	PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4	Proteasome (prosome, macropain) assembly chaperone 1	609702	?Proteasome-associated autoinflammatory syndrome 4	619183	AR	3	mutation identified in 1 PRAAS4 patient	Psmg2
18:12,661,956 18p11.21	CEP76	Centrosomal protein, 76kD	620791						Cep76
18:12,785,478 18p11.21	PTPN2, PTPT	Protein tyrosine phosphatase, nonreceptor-type, 2	176887						Ptpn2

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 59 - 68 of 276 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)
18:11,882,622-11,908,317 18p11.21	MPPE1	Metallophosphoesterase 1	611900						Mppe1
18:11,981,507-12,030,877 18p11.21	IMPA2	Myo-inositol monophosphatase 2	605922						Impa2
18:12,254,361-12,277,595 18p11.21	CIDEA	Cell death-inducing DFFA-like effector A	604440						Cidea
18:12,307,669-12,329,826 18p11.21	TUBB6, FPVEPD	Tubulin, beta-6	615103	?Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	617732	Autosomal dominant	3	mutation identified in 1 FPVEPD family	Tubb6
18:12,328,944-12,377,227 18p11.21	AFG3L2, SCA28, SPAX5, OPA12	AFG3-like matrix AAA peptidase, subunit 2	604581	Optic atrophy 12	618977	Autosomal dominant	3		Afg3l2
				Spastic ataxia 5, autosomal recessive	614487	Autosomal recessive	3
				Spinocerebellar ataxia 28	610246	Autosomal dominant	3
18:12,407,929-12,432,238 18p11.21	PRELID3A, SLMO1, C18orf43	PRELI domain-containing protein 3A	616545						Prelid3a
18:12,446,512-12,662,091 18p11.21	SPIRE1, KIAA1135	Spire-type actin nucleation factor 1	609216						Spire1
18:12,658,738-12,725,740 18p11.21	PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2, PRAAS4	Proteasome (prosome, macropain) assembly chaperone 1	609702	?Proteasome-associated autoinflammatory syndrome 4	619183	Autosomal recessive	3	mutation identified in 1 PRAAS4 patient	Psmg2
18:12,661,956-12,702,777 18p11.21	CEP76	Centrosomal protein, 76kD	620791						Cep76
18:12,785,478-12,884,237 18p11.21	PTPN2, PTPT	Protein tyrosine phosphatase, nonreceptor-type, 2	176887						Ptpn2

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Printed: Aug. 31, 2024