Gene Map - Chromosome: 11

OMIM Gene/Loci: 694 - 703 of 1,096 on Chromosome 11 (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)
11:69,965,997 11q13.3	ANO1, TMEM16A, FLJ10261, INDMS, MYMY7	Anoctamin 1, calcium activated chloride channel	610108	?Intestinal dysmotility syndrome	620045	AR	3	mutation identified in 1 INDMS family and 1 MYMY7 AR patient	Ano1
11:69,965,997 11q13.3	ANO1, TMEM16A, FLJ10261, INDMS, MYMY7	Anoctamin 1, calcium activated chloride channel	610108	Moyamoya disease 7	620687	AD, AR	3		Ano1
11:70,203,296 11q13.3	FADD, IMD90	FAS-associating protein with death domain	602457	Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	613759	AR	3		Fadd
11:70,270,690 11q13.3	PPFIA1, LIP1	PTPRF-interacting protein alpha-1	611054						Ppfia1
11:70,398,529 11q13.3	CTTN, EMS1	Cortactin	164765					amplified in breast cancer and squamous cell cancer	Cttn
11:70,467,854 11q13.3-q13.4	SHANK2, CORTBP1, AUTS17	SH3 and multiple ankyrin repeat domains 2	603290	{Autism susceptibility 17}	613436		3		Shank2
11:71,434,411 11q13.4	DHCR7, SLOS	Delta-7-dehydrocholesterol reductase	602858	Smith-Lemli-Opitz syndrome	270400	AR	3		Dhcr7
11:71,453,203 11q13.4	NADSYN1, VCRL3	NAD synthetase 1	608285	Vertebral, cardiac, renal, and limb defects syndrome 3	618845	AR	3		Nadsyn1
11:71,548,420 11q13.4	KRTAP5-9, KRN1	Keratin associated protein 5-9	148021						Krtap5-1, Krtap5-20, Krtap5-22, Krtap5-24, Krtap5-26, Krtap5-4
11:71,787,514 11q13.4	FAM86C1P, FAM86C1	Family with sequence similarity 86, member C1, pseudogene	616124
11:71,929,046 11q13.4	RNF121	RING finger protein 121	620529						Rnf121

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 694 - 703 of 1,096 on Chromosome 11 (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)
11:69,965,997-70,189,530 11q13.3	ANO1, TMEM16A, FLJ10261, INDMS, MYMY7	Anoctamin 1, calcium activated chloride channel	610108	?Intestinal dysmotility syndrome	620045	Autosomal recessive	3	mutation identified in 1 INDMS family and 1 MYMY7 AR patient	Ano1
11:69,965,997-70,189,530 11q13.3	ANO1, TMEM16A, FLJ10261, INDMS, MYMY7	Anoctamin 1, calcium activated chloride channel	610108	Moyamoya disease 7	620687	Autosomal dominant; Autosomal recessive	3		Ano1
11:70,203,296-70,207,390 11q13.3	FADD, IMD90	FAS-associating protein with death domain	602457	Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	613759	Autosomal recessive	3		Fadd
11:70,270,690-70,384,396 11q13.3	PPFIA1, LIP1	PTPRF-interacting protein alpha-1	611054						Ppfia1
11:70,398,529-70,436,575 11q13.3	CTTN, EMS1	Cortactin	164765					amplified in breast cancer and squamous cell cancer	Cttn
11:70,467,854-71,253,228 11q13.3-q13.4	SHANK2, CORTBP1, AUTS17	SH3 and multiple ankyrin repeat domains 2	603290	{Autism susceptibility 17}	613436		3		Shank2
11:71,434,411-71,448,393 11q13.4	DHCR7, SLOS	Delta-7-dehydrocholesterol reductase	602858	Smith-Lemli-Opitz syndrome	270400	Autosomal recessive	3		Dhcr7
11:71,453,203-71,501,816 11q13.4	NADSYN1, VCRL3	NAD synthetase 1	608285	Vertebral, cardiac, renal, and limb defects syndrome 3	618845	Autosomal recessive	3		Nadsyn1
11:71,548,420-71,549,608 11q13.4	KRTAP5-9, KRN1	Keratin associated protein 5-9	148021						Krtap5-1, Krtap5-20, Krtap5-22, Krtap5-24, Krtap5-26, Krtap5-4
11:71,787,514-71,799,661 11q13.4	FAM86C1P, FAM86C1	Family with sequence similarity 86, member C1, pseudogene	616124
11:71,929,046-71,997,597 11q13.4	RNF121	RING finger protein 121	620529						Rnf121

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Printed: July 19, 2024