Entry Search - 146920 225750 606034 606609 606754 606951 610181 610326 610329 610330 610333 612952 615010 615846

Search: '146920 225750 606034 606609 606754 606951 610181 610326 610329 610330 610333 612952 615010 615846 (Search in: MIM number)'

Results: 14 entries.

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# 225750. AICARDI-GOUTIERES SYNDROME 1; AGS1
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
Cytogenetic location: 3p21.31
Matching terms: 225750
► 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
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	225750	AD, AR	3	TREX1	606609

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 230312006 ICD10CM: E79.81 ORPHA: 51 DO: 0050629

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* 606034. RIBONUCLEASE H2, SUBUNIT A; RNASEH2A
Cytogenetic location: 19p13.13, Genomic coordinates (GRCh38): 19:12,806,584-12,813,640
Matching terms: 606034
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.13	Aicardi-Goutieres syndrome 4	610333	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 Dosage ClinGen Validity MedlinePlus Genetics 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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# 610181. AICARDI-GOUTIERES SYNDROME 2; AGS2
Cytogenetic location: 13q14.3
Matching terms: 610181
► 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
13q14.3	Aicardi-Goutieres syndrome 2	610181	AR	3	RNASEH2B	610326

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

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Links
Testing GTR EuroGentest Aicardi-Goutières syndrome RNASEH2B-related hereditar…	Clinical Resources Clinical Trials EuroGentest Aicardi-Goutières syndrome RNASEH2B-related hereditar… Gene Reviews GTR OrphaNet Aicardi-Goutières syndrome RNASEH2B-related hereditar…	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 51, 689234 DO: 0050629

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* 610326. RIBONUCLEASE H2, SUBUNIT B; RNASEH2B
Cytogenetic location: 13q14.3, Genomic coordinates (GRCh38): 13:50,909,678-50,970,460
Matching terms: 610326
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q14.3	Aicardi-Goutieres syndrome 2	610181	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 610329. AICARDI-GOUTIERES SYNDROME 3; AGS3
Cytogenetic location: 11q13.1
Matching terms: 610329
► 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
11q13.1	Aicardi-Goutieres syndrome 3	610329	AR	3	RNASEH2C	610330

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 51 DO: 0050629

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* 610330. RIBONUCLEASE H2, SUBUNIT C; RNASEH2C
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,717,673-65,720,798
Matching terms: 610330
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q13.1	Aicardi-Goutieres syndrome 3	610329	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 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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# 610333. AICARDI-GOUTIERES SYNDROME 4; AGS4
Cytogenetic location: 19p13.13
Matching terms: 610333
► 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
19p13.13	Aicardi-Goutieres syndrome 4	610333	AR	3	RNASEH2A	606034

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 51 DO: 0050629

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# 612952. AICARDI-GOUTIERES SYNDROME 5; AGS5
Cytogenetic location: 20q11.23
Matching terms: 612952
► 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
20q11.23	Aicardi-Goutieres syndrome 5	612952	AR	3	SAMHD1	606754

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 51 DO: 0050629

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# 615846. AICARDI-GOUTIERES SYNDROME 7; AGS7
Cytogenetic location: 2q24.2
Matching terms: 615846
► 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
2q24.2	Aicardi-Goutieres syndrome 7	615846	AD	3	IFIH1	606951

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

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Links
Testing GTR EuroGentest Aicardi-Goutières syndrome IFH1-related hereditary sp…	Clinical Resources Clinical Trials EuroGentest Aicardi-Goutières syndrome IFH1-related hereditary sp… Gene Reviews GTR OrphaNet Aicardi-Goutières syndrome IFH1-related hereditary sp…	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 51, 689231 DO: 0050629

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10:

# 615010. AICARDI-GOUTIERES SYNDROME 6; AGS6
Cytogenetic location: 1q21.3
Matching terms: 615010
► 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
1q21.3	Aicardi-Goutieres syndrome 6	615010	AR	3	ADAR	146920

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Aicardi-Goutieres syndrome - PS225750 - 9 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Aicardi-Goutieres syndrome 6	AR	3	615010	ADAR	146920
2q24.2	Aicardi-Goutieres syndrome 7	AD	3	615846	IFIH1	606951
3p21.31	Aicardi-Goutieres syndrome 1, dominant and recessive	AD, AR	3	225750	TREX1	606609
5q33.3	?Aicardi-Goutieres syndrome 8	AR	3	619486	LSM11	617910
11q13.1	Aicardi-Goutieres syndrome 3	AR	3	610329	RNASEH2C	610330
12p13.31	Aicardi-Goutieres syndrome 9	AR	3	619487	RNU7-1	617876
13q14.3	Aicardi-Goutieres syndrome 2	AR	3	610181	RNASEH2B	610326
19p13.13	Aicardi-Goutieres syndrome 4	AR	3	610333	RNASEH2A	606034
20q11.23	Aicardi-Goutieres syndrome 5	AR	3	612952	SAMHD1	606754

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 51 DO: 0050629

▲ Close

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Search: 146920 225750 606034 606609 606754 606951 610181 610326 610329 610330 610333 612952 615010 615846 (Search in: MIM number)

Results: 14 entries.

# 225750. AICARDI-GOUTIERES SYNDROME 1; AGS1
AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT, INCLUDED
Cytogenetic location: 3p21.31
Matching terms: 225750

* 606034. RIBONUCLEASE H2, SUBUNIT A; RNASEH2A
Cytogenetic location: 19p13.13, Genomic coordinates (GRCh38): 19:12,806,584-12,813,640
Matching terms: 606034

# 610181. AICARDI-GOUTIERES SYNDROME 2; AGS2
Cytogenetic location: 13q14.3
Matching terms: 610181

* 610326. RIBONUCLEASE H2, SUBUNIT B; RNASEH2B
Cytogenetic location: 13q14.3, Genomic coordinates (GRCh38): 13:50,909,678-50,970,460
Matching terms: 610326

# 610329. AICARDI-GOUTIERES SYNDROME 3; AGS3
Cytogenetic location: 11q13.1
Matching terms: 610329

* 610330. RIBONUCLEASE H2, SUBUNIT C; RNASEH2C
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,717,673-65,720,798
Matching terms: 610330

# 610333. AICARDI-GOUTIERES SYNDROME 4; AGS4
Cytogenetic location: 19p13.13
Matching terms: 610333

# 612952. AICARDI-GOUTIERES SYNDROME 5; AGS5
Cytogenetic location: 20q11.23
Matching terms: 612952

# 615846. AICARDI-GOUTIERES SYNDROME 7; AGS7
Cytogenetic location: 2q24.2
Matching terms: 615846

10:

# 615010. AICARDI-GOUTIERES SYNDROME 6; AGS6
Cytogenetic location: 1q21.3
Matching terms: 615010

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