Gene Map Search - 12q23

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Results: 76 entries.

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Genomic context table	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)
1:	12:10,000,001 12p13.2-q24.1	IBD2	Inflammatory bowel disease 2	601458	{Inflammatory bowel disease 2}	601458		2	mainly ulcerative colitis
2:	12:35,500,001 12q	IHPS1, IHPS	Pyloric stenosis, infantile hypertrophic 1	179010	Pyloric stenosis, infantile hypertrophic 1	179010	AD, Mu	2
3:	12:71,100,001 12q21-q23	DUH2	Dyschromatosis universalis hereditaria 2	612715	Dyschromatosis universalis hereditaria 2	612715		2	between rs1921045 and rs2373584
4:	12:71,100,001 12q21-q23	MYP3	Myopia, high grade, 3, autosomal dominant	603221	Myopia-3	603221	AD	2
5:	12:92,200,001 12q22-q23.3	ETL2, FTLE	Epilepsy, familial temporal lobe	608096	Epilepsy, familial temporal lobe, 2	608096	AD	2	max lod at D12S1706
6:	12:92,200,001 12q22-q23.2	MDD1	Major depressive disorder	608520	Major depressive disorder 1	608516		2	max lod with D12S1706
7:	12:95,800,001 12q23-q24	SPG36	Spastic paraplegia-36	613096	Spastic paraplegia 36, autosomal dominant	613096	AD	2	between D12S360 and D12S354
8:	12:95,858,952 12q23.1	SNRPF	Small nuclear ribonucleoprotein polypeptide F	603541						Snrpf
9:	12:95,943,331 12q23.1	AMDHD1	Amidohydrolase domain-containing protein 1	620863						Amdhd1
10:	12:95,972,662 12q23.1	HAL, HSTD	Histidine ammonia-lyase (histidase)	609457	[Histidinemia]	235800	AD, AR	3		Hal

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Results: 76 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)
12:10,000,001-113,900,000 12p13.2-q24.1	IBD2	Inflammatory bowel disease 2	601458	{Inflammatory bowel disease 2}	601458		2	mainly ulcerative colitis
12:35,500,001-133,275,309 12q	IHPS1, IHPS	Pyloric stenosis, infantile hypertrophic 1	179010	Pyloric stenosis, infantile hypertrophic 1	179010	Autosomal dominant; Multifactorial	2
12:71,100,001-108,600,000 12q21-q23	DUH2	Dyschromatosis universalis hereditaria 2	612715	Dyschromatosis universalis hereditaria 2	612715		2	between rs1921045 and rs2373584
12:71,100,001-108,600,000 12q21-q23	MYP3	Myopia, high grade, 3, autosomal dominant	603221	Myopia-3	603221	Autosomal dominant	2
12:92,200,001-108,600,000 12q22-q23.3	ETL2, FTLE	Epilepsy, familial temporal lobe	608096	Epilepsy, familial temporal lobe, 2	608096	Autosomal dominant	2	max lod at D12S1706
12:92,200,001-103,500,000 12q22-q23.2	MDD1	Major depressive disorder	608520	Major depressive disorder 1	608516		2	max lod with D12S1706
12:95,800,001-133,275,309 12q23-q24	SPG36	Spastic paraplegia-36	613096	Spastic paraplegia 36, autosomal dominant	613096	Autosomal dominant	2	between D12S360 and D12S354
12:95,858,952-95,866,140 12q23.1	SNRPF	Small nuclear ribonucleoprotein polypeptide F	603541						Snrpf
12:95,943,331-95,968,720 12q23.1	AMDHD1	Amidohydrolase domain-containing protein 1	620863						Amdhd1
12:95,972,662-95,996,344 12q23.1	HAL, HSTD	Histidine ammonia-lyase (histidase)	609457	[Histidinemia]	235800	Autosomal dominant; Autosomal recessive	3		Hal

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Printed: Nov. 4, 2024