Gene Map - Chromosome: 4

OMIM Gene/Loci: 525 - 534 of 734 on Chromosome 4 (All Entries)

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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)
4:121,667,946 4q27	ANXA5, ENX2, RPRGL3	Annexin A5 (endonexin II)	131230	{Pregnancy loss, recurrent, susceptibility to, 3}	614391	AD	3		Anxa5
4:121,801,323 4q27	EXOSC9, PMSCL1, PCH1D	Exosome component 9	606180	Pontocerebellar hypoplasia, type 1D	618065	AR	3		Exosc9
4:121,816,444 4q27	CCNA, CCN1	Cyclin A	123835						Ccna2
4:121,824,329 4q27	BBS7	BBS7 gene	607590	Bardet-Biedl syndrome 7	615984	AR	3		Bbs7
4:121,874,481 4q27	TRPC3, TRP3, SCA41	Transient receptor potential cation channel, subfamily C, member 3	602345	?Spinocerebellar ataxia 41	616410	AD	3	mutation identified in one SCA41 patient	Trpc3
4:122,152,331 4q27	KIAA1109, ALKKUCS	KIAA1109 gene	611565	Alkuraya-Kucinskas syndrome	617822	AR	3		Bltp1
4:122,379,011 4q27	ADAD1, TENR	Adenosine deaminase domain-containing protein 1, testis-specific	614130						Adad1
4:122,451,470 4q27	IL2	Interleukin-2	147680						Il2
4:122,610,108 4q27	IL21, CVID11	Interleukin 21	605384	?Immunodeficiency, common variable, 11	615767	AR	3	mutation identified in 1 CVID11 patient	Il21
4:122,700,442 4q27	BBS12, FLJ35630, C4orf24	BBS12 gene	610683	Bardet-Biedl syndrome 12	615989	AR	3	1Mb centromeric to BBS	Bbs12

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 525 - 534 of 734 on Chromosome 4 (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)
4:121,667,946-121,696,980 4q27	ANXA5, ENX2, RPRGL3	Annexin A5 (endonexin II)	131230	{Pregnancy loss, recurrent, susceptibility to, 3}	614391	Autosomal dominant	3		Anxa5
4:121,801,323-121,817,021 4q27	EXOSC9, PMSCL1, PCH1D	Exosome component 9	606180	Pontocerebellar hypoplasia, type 1D	618065	Autosomal recessive	3		Exosc9
4:121,816,444-121,823,883 4q27	CCNA, CCN1	Cyclin A	123835						Ccna2
4:121,824,329-121,870,474 4q27	BBS7	BBS7 gene	607590	Bardet-Biedl syndrome 7	615984	Autosomal recessive	3		Bbs7
4:121,874,481-121,952,060 4q27	TRPC3, TRP3, SCA41	Transient receptor potential cation channel, subfamily C, member 3	602345	?Spinocerebellar ataxia 41	616410	Autosomal dominant	3	mutation identified in one SCA41 patient	Trpc3
4:122,152,331-122,362,752 4q27	KIAA1109, ALKKUCS	KIAA1109 gene	611565	Alkuraya-Kucinskas syndrome	617822	Autosomal recessive	3		Bltp1
4:122,379,011-122,429,784 4q27	ADAD1, TENR	Adenosine deaminase domain-containing protein 1, testis-specific	614130						Adad1
4:122,451,470-122,456,725 4q27	IL2	Interleukin-2	147680						Il2
4:122,610,108-122,621,066 4q27	IL21, CVID11	Interleukin 21	605384	?Immunodeficiency, common variable, 11	615767	Autosomal recessive	3	mutation identified in 1 CVID11 patient	Il21
4:122,700,442-122,744,939 4q27	BBS12, FLJ35630, C4orf24	BBS12 gene	610683	Bardet-Biedl syndrome 12	615989	Autosomal recessive	3	1Mb centromeric to BBS	Bbs12

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Printed: Aug. 31, 2024