Entry Search - 139150 600011 608354 618196

Search: '139150 600011 608354 618196 (Search in: MIM number)'

Results: 4 entries.

# 618196. CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
Cytogenetic location: 7q22.1
Matching terms: 618196
► 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
7q22.1	Capillary malformation-arteriovenous malformation 2	618196	AD	3	EPHB4	600011

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Capillary malformation-arteriovenous malformation - PS608354 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5q14.3	Capillary malformation-arteriovenous malformation 1	AD	3	608354	RASA1	139150
7q22.1	Capillary malformation-arteriovenous malformation 2	AD	3	618196	EPHB4	600011

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Links
Testing GTR EuroGentest Capillary malformation-art… EPHB4-related capillary ma…	Clinical Resources Clinical Trials EuroGentest Capillary malformation-art… EPHB4-related capillary ma… Gene Reviews GTR OrphaNet Capillary malformation-art… EPHB4-related capillary ma…

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ICD+
ORPHA: 137667, 693912

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# 608354. CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1
Cytogenetic location: 5q14.3
Matching terms: 608354
► 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
5q14.3	Capillary malformation-arteriovenous malformation 1	608354	AD	3	RASA1	139150

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Capillary malformation-arteriovenous malformation - PS608354 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
5q14.3	Capillary malformation-arteriovenous malformation 1	AD	3	608354	RASA1	139150
7q22.1	Capillary malformation-arteriovenous malformation 2	AD	3	618196	EPHB4	600011

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Links
Testing GTR EuroGentest Capillary malformation-art… Angioosteohypertrophic syn… RASA1-related capillary ma… Parkes Weber syndrome	Clinical Resources Clinical Trials EuroGentest Capillary malformation-art… Angioosteohypertrophic syn… RASA1-related capillary ma… Parkes Weber syndrome Gene Reviews Genetic Alliance MedlinePlus Genetics Capillary malformation-art… Parkes Weber syndrome GTR OrphaNet Capillary malformation-art… Angioosteohypertrophic syn… RASA1-related capillary ma… Parkes Weber syndrome

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ICD+
SNOMEDCT: 703533007 ORPHA: 137667, 2346, 693907, 90307

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* 600011. EPHRIN RECEPTOR EphB4; EPHB4
Cytogenetic location: 7q22.1, Genomic coordinates (GRCh38): 7:100,802,565-100,827,523
Matching terms: 600011
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q22.1	Capillary malformation-arteriovenous malformation 2	618196	AD	3
7q22.1	Lymphatic malformation 7	617300	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 DECIPHER 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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* 139150. RAS p21 PROTEIN ACTIVATOR 1; RASA1
Cytogenetic location: 5q14.3, Genomic coordinates (GRCh38): 5:87,267,883-87,391,916
Matching terms: 139150
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q14.3	Basal cell carcinoma, somatic	605462		3
5q14.3	Capillary malformation-arteriovenous malformation 1	608354	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 Dosage ClinGen Validity MedlinePlus Genetics 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 OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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Search: 139150 600011 608354 618196 (Search in: MIM number)

Results: 4 entries.

# 618196. CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
Cytogenetic location: 7q22.1
Matching terms: 618196

# 608354. CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1; CMAVM1
Cytogenetic location: 5q14.3
Matching terms: 608354

* 600011. EPHRIN RECEPTOR EphB4; EPHB4
Cytogenetic location: 7q22.1, Genomic coordinates (GRCh38): 7:100,802,565-100,827,523
Matching terms: 600011

* 139150. RAS p21 PROTEIN ACTIVATOR 1; RASA1
Cytogenetic location: 5q14.3, Genomic coordinates (GRCh38): 5:87,267,883-87,391,916
Matching terms: 139150

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