Entry Search - 120700 120920 134370 134371 138470 188040 193190 217030 235400 601440 605336 605337 612922 612923 612924 612925 612926

Search: '120700 120920 134370 134371 138470 188040 193190 217030 235400 601440 605336 605337 612922 612923 612924 612925 612926 (Search in: MIM number)'

Results: 17 entries.

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* 134370. COMPLEMENT FACTOR H; CFH
FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,652,043-196,747,504
Matching terms: 134370
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}	235400	AD, AR	3
	{Macular degeneration, age-related, 4}	610698	AD	3
	Basal laminar drusen	126700	AD	3
	Complement factor H deficiency	609814	AD, AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 234622003, 312926005

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* 134371. COMPLEMENT FACTOR H-RELATED 1; CFHR1
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,819,731-196,832,189
Matching terms: 134371
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	235400	AD, AR	3
1q31.3	{Macular degeneration, age-related, reduced risk of}	603075	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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* 120700. COMPLEMENT COMPONENT 3; C3
C3a, INCLUDED
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,677,704-6,720,650
Matching terms: 120700
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}	612925	AD	3
	{Macular degeneration, age-related, 9}	611378		3
	C3 deficiency	613779	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 771443008

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* 120920. CD46 ANTIGEN; CD46
Cytogenetic location: 1q32.2, Genomic coordinates (GRCh38): 1:207,752,038-207,795,516
Matching terms: 120920
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q32.2	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	612922	AD, AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB	Cellular Pathways KEGG Reactome

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* 138470. COMPLEMENT FACTOR B; CFB
Cytogenetic location: 6p21.33, Genomic coordinates (GRCh38): 6:31,946,095-31,952,084
Matching terms: 138470
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p21.33	?Complement factor B deficiency	615561	AR	3
	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}	612924	AD	3
	{Macular degeneration, age-related, 14, reduced risk of}	615489	DD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 193190. VITRONECTIN; VTN
Cytogenetic location: 17q11.2, Genomic coordinates (GRCh38): 17:28,367,284-28,370,307
Matching terms: 193190
► Links

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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* 188040. THROMBOMODULIN; THBD
Cytogenetic location: 20p11.21, Genomic coordinates (GRCh38): 20:23,045,633-23,049,672
Matching terms: 188040
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20p11.21	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}	612926	AD	3
20p11.21	Thrombophilia 12 due to thrombomodulin defect	614486	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1197595004

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# 235400. HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
Cytogenetic locations: 1q31.3, 1q31.3, 1q31.3
Matching terms: 235400
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}	235400	AD, AR	3	CFH	134370
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	235400	AD, AR	3	CFHR3	605336
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	235400	AD, AR	3	CFHR1	134371

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Hemolytic uremic syndrome - PS235400 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}	AD, AR	3	235400	CFH	134370
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	AD, AR	3	235400	CFHR3	605336
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	AD, AR	3	235400	CFHR1	134371
1q32.2	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	AD, AR	3	612922	MCP	120920
4q25	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}	AD	3	612923	CFI	217030
6p21.33	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}	AD	3	612924	CFB	138470
17q22	Nephrotic syndrome, type 7	AR	3	615008	DGKE	601440
17q22	{Hemolytic uremic syndrome, atypical, susceptibility to, 7}	AR	3	615008	DGKE	601440
19p13.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}	AD	3	612925	C3	120700
20p11.21	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}	AD	3	612926	THBD	188040
Xq24	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	XLR	3	301110	C1GALT1C1	300611

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Links
Testing GTR EuroGentest Atypical hemolytic uremic … Atypical hemolytic uremic … Shiga toxin-associated hem… Atypical hemolytic uremic …	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Atypical hemolytic uremic … Atypical hemolytic uremic … Shiga toxin-associated hem… Atypical hemolytic uremic … Gene Reviews Genetic Alliance GTR GARD OrphaNet Atypical hemolytic uremic … Atypical hemolytic uremic … Shiga toxin-associated hem… Atypical hemolytic uremic …	Animal Models OMIA

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ICD+
ORPHA: 2134, 544472, 90038, 93581

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* 217030. COMPLEMENT FACTOR I; CFI
Cytogenetic location: 4q25, Genomic coordinates (GRCh38): 4:109,730,982-109,801,999
Matching terms: 217030
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q25	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}	612923	AD	3
	{Macular degeneration, age-related, 13, susceptibility to}	615439	AD	3
	Complement factor I deficiency	610984	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 234621005

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10:

# 612922. HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
Cytogenetic location: 1q32.2
Matching terms: 612922
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q32.2	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	612922	AD, AR	3	MCP	120920

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Hemolytic uremic syndrome - PS235400 - 11 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 1}	AD, AR	3	235400	CFH	134370
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	AD, AR	3	235400	CFHR3	605336
1q31.3	{Hemolytic uremic syndrome, atypical, susceptibility to}	AD, AR	3	235400	CFHR1	134371
1q32.2	{Hemolytic uremic syndrome, atypical, susceptibility to, 2}	AD, AR	3	612922	MCP	120920
4q25	{Hemolytic uremic syndrome, atypical, susceptibility to, 3}	AD	3	612923	CFI	217030
6p21.33	{Hemolytic uremic syndrome, atypical, susceptibility to, 4}	AD	3	612924	CFB	138470
17q22	Nephrotic syndrome, type 7	AR	3	615008	DGKE	601440
17q22	{Hemolytic uremic syndrome, atypical, susceptibility to, 7}	AR	3	615008	DGKE	601440
19p13.3	{Hemolytic uremic syndrome, atypical, susceptibility to, 5}	AD	3	612925	C3	120700
20p11.21	{Hemolytic uremic syndrome, atypical, susceptibility to, 6}	AD	3	612926	THBD	188040
Xq24	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	XLR	3	301110	C1GALT1C1	300611

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Links
Testing GTR EuroGentest Atypical hemolytic uremic … Atypical hemolytic uremic …	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Atypical hemolytic uremic … Atypical hemolytic uremic … Gene Reviews Genetic Alliance GTR GARD OrphaNet Atypical hemolytic uremic … Atypical hemolytic uremic …

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ICD+
ORPHA: 2134, 544472

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Search: 120700 120920 134370 134371 138470 188040 193190 217030 235400 601440 605336 605337 612922 612923 612924 612925 612926 (Search in: MIM number)

Results: 17 entries.

* 134370. COMPLEMENT FACTOR H; CFH
FACTOR H-LIKE 1, INCLUDED; FHL1, INCLUDED
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,652,043-196,747,504
Matching terms: 134370

* 134371. COMPLEMENT FACTOR H-RELATED 1; CFHR1
Cytogenetic location: 1q31.3, Genomic coordinates (GRCh38): 1:196,819,731-196,832,189
Matching terms: 134371

* 120700. COMPLEMENT COMPONENT 3; C3
C3a, INCLUDED
Cytogenetic location: 19p13.3, Genomic coordinates (GRCh38): 19:6,677,704-6,720,650
Matching terms: 120700

* 120920. CD46 ANTIGEN; CD46
Cytogenetic location: 1q32.2, Genomic coordinates (GRCh38): 1:207,752,038-207,795,516
Matching terms: 120920

* 138470. COMPLEMENT FACTOR B; CFB
Cytogenetic location: 6p21.33, Genomic coordinates (GRCh38): 6:31,946,095-31,952,084
Matching terms: 138470

* 193190. VITRONECTIN; VTN
Cytogenetic location: 17q11.2, Genomic coordinates (GRCh38): 17:28,367,284-28,370,307
Matching terms: 193190

* 188040. THROMBOMODULIN; THBD
Cytogenetic location: 20p11.21, Genomic coordinates (GRCh38): 20:23,045,633-23,049,672
Matching terms: 188040

# 235400. HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1
HEMOLYTIC UREMIC SYNDROME, TYPICAL, INCLUDED
Cytogenetic locations: 1q31.3, 1q31.3, 1q31.3
Matching terms: 235400

* 217030. COMPLEMENT FACTOR I; CFI
Cytogenetic location: 4q25, Genomic coordinates (GRCh38): 4:109,730,982-109,801,999
Matching terms: 217030

10:

# 612922. HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2; AHUS2
Cytogenetic location: 1q32.2
Matching terms: 612922

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