Entry Search - 163950 164757 164760 164790 176872 176876 182530 190070 600098 600574 601247 601589 605275 608435 609591 609942 610733 611553 613224 613706 615355 616559 616564 618499 618624

Search: '163950 164757 164760 164790 176872 176876 182530 190070 600098 600574 601247 601589 605275 608435 609591 609942 610733 611553 613224 613706 615355 616559 616564 618499 618624 (Search in: MIM number)'

Results: 25 entries.

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# 605275. NOONAN SYNDROME 2; NS2
Cytogenetic location: 22q11.21
Matching terms: 605275
► 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
22q11.21	Noonan syndrome 2	605275	AR	3	LZTR1	600574

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060580

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* 164790. NRAS PROTOONCOGENE, GTPase; NRAS
Cytogenetic location: 1p13.2, Genomic coordinates (GRCh38): 1:114,704,469-114,716,771
Matching terms: 164790
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p13.2	?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	614470		3
	Colorectal cancer, somatic	114500		3
	Epidermal nevus, somatic	162900		3
	Melanocytic nevus syndrome, congenital, somatic	137550		3
	Neurocutaneous melanosis, somatic	249400		3
	Noonan syndrome 6	613224	AD	3
	Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic	163200		3
	Thyroid carcinoma, follicular, somatic	188470		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 OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 608435. MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS
Cytogenetic location: 3q22.3, Genomic coordinates (GRCh38): 3:138,347,648-138,405,535
Matching terms: 608435
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q22.3	Noonan syndrome 11	618499	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 IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 609591. RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:155,897,808-155,911,349
Matching terms: 609591
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q22	Noonan syndrome 8	615355	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 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 OrthoDB ZFin	Cellular Pathways Reactome

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# 609942. NOONAN SYNDROME 3; NS3
Cytogenetic location: 12p12.1
Matching terms: 609942
► 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
12p12.1	Noonan syndrome 3	609942	AD	3	KRAS	190070

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060581

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# 610733. NOONAN SYNDROME 4; NS4
Cytogenetic location: 2p22.1
Matching terms: 610733
► 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
2p22.1	Noonan syndrome 4	610733	AD	3	SOS1	182530

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060582

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# 613224. NOONAN SYNDROME 6; NS6
Cytogenetic location: 1p13.2
Matching terms: 613224
► 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
1p13.2	Noonan syndrome 6	613224	AD	3	NRAS	164790

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060584

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# 613706. NOONAN SYNDROME 7; NS7
Cytogenetic location: 7q34
Matching terms: 613706
► 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
7q34	Noonan syndrome 7	613706	AD	3	BRAF	164757

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060585

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# 611553. NOONAN SYNDROME 5; NS5
Cytogenetic location: 3p25.2
Matching terms: 611553
► 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
3p25.2	Noonan syndrome 5	611553	AD	3	RAF1	164760

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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

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ICD+
ORPHA: 648 DO: 0060583

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10:

# 616559. NOONAN SYNDROME 9; NS9
Cytogenetic location: 14q21.3
Matching terms: 616559
► 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
14q21.3	Noonan syndrome 9	616559	AD	3	SOS2	601247

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Noonan syndrome - PS163950 - 16 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.2	Noonan syndrome 6	AD	3	613224	NRAS	164790
1q22	Noonan syndrome 8	AD	3	615355	RIT1	609591
2p23.2	Noonan syndrome-like disorder with loose anagen hair 2	AD	3	617506	PPP1CB	600590
2p22.1	Noonan syndrome 4	AD	3	610733	SOS1	182530
2p14	Noonan syndrome 14	AR	3	619745	SPRED2	609292
3p25.2	Noonan syndrome 5	AD	3	611553	RAF1	164760
3q22.3	Noonan syndrome 11	AD	3	618499	MRAS	608435
7q34	Noonan syndrome 7	AD	3	613706	BRAF	164757
10q25.2	Noonan syndrome-like with loose anagen hair 1	AD	3	607721	SHOC2	602775
11p15.2	Noonan syndrome 12	AD	3	618624	RRAS2	600098
12p12.1	Noonan syndrome 3	AD	3	609942	KRAS	190070
12q24.13	Noonan syndrome 1	AD	3	163950	PTPN11	176876
14q21.3	Noonan syndrome 9	AD	3	616559	SOS2	601247
22q11.21	Noonan syndrome 10	AD	3	616564	LZTR1	600574
22q11.21	Noonan syndrome 2	AR	3	605275	LZTR1	600574
22q11.22	Noonan syndrome 13	AD	3	619087	MAPK1	176948

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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: 648 DO: 0060587

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Search: 163950 164757 164760 164790 176872 176876 182530 190070 600098 600574 601247 601589 605275 608435 609591 609942 610733 611553 613224 613706 615355 616559 616564 618499 618624 (Search in: MIM number)

Results: 25 entries.

# 605275. NOONAN SYNDROME 2; NS2
Cytogenetic location: 22q11.21
Matching terms: 605275

* 164790. NRAS PROTOONCOGENE, GTPase; NRAS
Cytogenetic location: 1p13.2, Genomic coordinates (GRCh38): 1:114,704,469-114,716,771
Matching terms: 164790

* 608435. MUSCLE RAS VIRAL ONCOGENE HOMOLOG; MRAS
Cytogenetic location: 3q22.3, Genomic coordinates (GRCh38): 3:138,347,648-138,405,535
Matching terms: 608435

* 609591. RIC-LIKE PROTEIN WITHOUT CAAX MOTIF 1; RIT1
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:155,897,808-155,911,349
Matching terms: 609591

# 609942. NOONAN SYNDROME 3; NS3
Cytogenetic location: 12p12.1
Matching terms: 609942

# 610733. NOONAN SYNDROME 4; NS4
Cytogenetic location: 2p22.1
Matching terms: 610733

# 613224. NOONAN SYNDROME 6; NS6
Cytogenetic location: 1p13.2
Matching terms: 613224

# 613706. NOONAN SYNDROME 7; NS7
Cytogenetic location: 7q34
Matching terms: 613706

# 611553. NOONAN SYNDROME 5; NS5
Cytogenetic location: 3p25.2
Matching terms: 611553

10:

# 616559. NOONAN SYNDROME 9; NS9
Cytogenetic location: 14q21.3
Matching terms: 616559

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