PedAM

Pediatric Disease Annotations & Medicines


	noonan syndrome 1

Disease ID	1106
Disease	noonan syndrome 1
Definition	A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
Synonym	familial syndrome turners familial turner syndrome male turner syndrome males syndrome turners noonan ehmke syndrome noonan syndrome noonan syndrome (disorder) noonan syndrome [disease/finding] noonan's syndrome noonan's syndrome (disorder) noonan-ehmke syndrome noonans syndrome ns1 pseudo ullrich turner syndrome pseudo-turner syndrome pseudo-ullrich-turner syndrome syndrome, familial turner syndrome, noonan syndrome, noonan-ehmke syndrome, pseudo-ullrich-turner syndrome, turner-like syndrome, ullrich-noonan turner like syndrome turner phenotype with normal karyotype turner phenotype, karyotype normal turner syndrome, familial turner's phenotype, karyotype normal turner's phenotype, karyotype normal (disorder) turner-like syndrome ullrich noonan syndrome ullrich-noonan syndrome ullrich-turner syndrome
Orphanet	ORPHANET:648
OMIM	OMIM:163950
DOID	DOID:3490
UMLS	C0028326
MeSH	D009634
SNOMED-CT	SNOMEDCT_US_2016_09_01:205684007;SNOMEDCT_US_2016_09_01:205824006
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) RAF1 \| 5894 \| CLINVAR;CTD_human;ORPHANET;GHR PTPN11 \| 5781 \| CLINVAR;CTD_human;UNIPROT;ORPHANET;GHR HRAS \| 3265 \| CTD_human NRAS \| 4893 \| CTD_human;ORPHANET;GHR EPHA2 \| 1969 \| CTD_human BRAF \| 673 \| CTD_human;ORPHANET;GHR KRAS \| 3845 \| CTD_human;ORPHANET;GHR MAP2K1 \| 5604 \| CTD_human MAP2K2 \| 5605 \| CTD_human KAT6B \| 23522 \| ORPHANET SHOC2 \| 8036 \| CTD_human LZTR1 \| 8216 \| ORPHANET SOS2 \| 6655 \| ORPHANET SOS1 \| 6654 \| CLINVAR;CTD_human;ORPHANET;GHR RIT1 \| 6016 \| ORPHANET A2ML1 \| 144568 \| ORPHANET RASA2 \| 5922 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3845 \| KRAS \| infer 5781 \| PTPN11 \| infer 5894 \| RAF1 \| infer 6654 \| SOS1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:120) 100419743 \| DBET \| DISEASES 2273 \| FHL1 \| DISEASES 6128 \| RPL6 \| DISEASES 2327 \| FMO2 \| DISEASES 8216 \| LZTR1 \| DISEASES 5594 \| MAPK1 \| DISEASES 6655 \| SOS2 \| DISEASES 128674 \| PROKR2 \| DISEASES 54922 \| RASIP1 \| DISEASES 3696 \| ITGB8 \| DISEASES 51655 \| RASD1 \| DISEASES 2483 \| FRG1 \| DISEASES 4633 \| MYL2 \| DISEASES 2690 \| GHR \| DISEASES 5341 \| PLEK \| DISEASES 2693 \| GHSR \| DISEASES 5911 \| RAP2A \| DISEASES 7389 \| UROD \| DISEASES 6237 \| RRAS \| DISEASES 8431 \| NR0B2 \| DISEASES 3845 \| KRAS \| DISEASES 22800 \| RRAS2 \| DISEASES 377 \| ARF3 \| DISEASES 1840 \| DTX1 \| DISEASES 26160 \| IFT172 \| DISEASES 8482 \| SEMA7A \| DISEASES 5605 \| MAP2K2 \| DISEASES 2549 \| GAB1 \| DISEASES 5595 \| MAPK3 \| DISEASES 867 \| CBL \| DISEASES 1950 \| EGF \| DISEASES 207 \| AKT1 \| DISEASES 5921 \| RASA1 \| DISEASES 5805 \| PTS \| DISEASES 2059 \| EPS8 \| DISEASES 23389 \| MED13L \| DISEASES 7545 \| ZIC1 \| DISEASES 23118 \| TAB2 \| DISEASES 5922 \| RASA2 \| DISEASES 23522 \| KAT6B \| DISEASES 22808 \| MRAS \| DISEASES 70 \| ACTC1 \| DISEASES 6777 \| STAT5B \| DISEASES 3549 \| IHH \| DISEASES 5500 \| PPP1CB \| DISEASES 161742 \| SPRED1 \| DISEASES 10818 \| FRS2 \| DISEASES 144568 \| A2ML1 \| DISEASES 5604 \| MAP2K1 \| DISEASES 3479 \| IGF1 \| DISEASES 9451 \| EIF2AK3 \| DISEASES 121391 \| KRT74 \| DISEASES 5778 \| PTPN7 \| DISEASES 3265 \| HRAS \| DISEASES 2771 \| GNAI2 \| DISEASES 1442 \| CSH1 \| DISEASES 5912 \| RAP2B \| DISEASES 2692 \| GHRHR \| DISEASES 78987 \| CRELD1 \| DISEASES 10215 \| OLIG2 \| DISEASES 9146 \| HGS \| DISEASES 151888 \| BTLA \| DISEASES 5501 \| PPP1CC \| DISEASES 55795 \| PCID2 \| DISEASES 2885 \| GRB2 \| DISEASES 5781 \| PTPN11 \| DISEASES 23136 \| EPB41L3 \| DISEASES 6776 \| STAT5A \| DISEASES 6731 \| SRP72 \| DISEASES 10620 \| ARID3B \| DISEASES 54820 \| NDE1 \| DISEASES 200734 \| SPRED2 \| DISEASES 23513 \| SCRIB \| DISEASES 4606 \| MYBPC2 \| DISEASES 23224 \| SYNE2 \| DISEASES 6714 \| SRC \| DISEASES 4763 \| NF1 \| DISEASES 157680 \| VPS13B \| DISEASES 8822 \| FGF17 \| DISEASES 9019 \| MPZL1 \| DISEASES 147409 \| DSG4 \| DISEASES 25942 \| SIN3A \| DISEASES 23456 \| ABCB10 \| DISEASES 2328 \| FMO3 \| DISEASES 6016 \| RIT1 \| DISEASES 8036 \| SHOC2 \| DISEASES 4893 \| NRAS \| DISEASES 2258 \| FGF13 \| DISEASES 51442 \| VGLL1 \| DISEASES 4774 \| NFIA \| DISEASES 8813 \| DPM1 \| DISEASES 2245 \| FGD1 \| DISEASES 8451 \| CUL4A \| DISEASES 8858 \| PROZ \| DISEASES 369 \| ARAF \| DISEASES 51160 \| VPS28 \| DISEASES 3980 \| LIG3 \| DISEASES 2563 \| GABRD \| DISEASES 448831 \| FRG2 \| DISEASES 5786 \| PTPRA \| DISEASES 3486 \| IGFBP3 \| DISEASES 6473 \| SHOX \| DISEASES 1443 \| CSH2 \| DISEASES 594855 \| CPLX3 \| DISEASES 4784 \| NFIX \| DISEASES 9969 \| MED13 \| DISEASES 5609 \| MAP2K7 \| DISEASES 23426 \| GRIP1 \| DISEASES 6654 \| SOS1 \| DISEASES 2160 \| F11 \| DISEASES 57057 \| TBX20 \| DISEASES 4776 \| NFATC4 \| DISEASES 55599 \| RNPC3 \| DISEASES 5795 \| PTPRJ \| DISEASES 3483 \| IGFALS \| DISEASES 4043 \| LRPAP1 \| DISEASES 6452 \| SH3BP2 \| DISEASES 4168 \| MCF2 \| DISEASES 23263 \| MCF2L \| DISEASES 64220 \| STRA6 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1106
Disease	noonan syndrome 1
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1106
Disease	noonan syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:63)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894229	17324647	3845	KRAS	umls:C0028326	BeFree	We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).	0.264970109	2007	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	17324647	3265	HRAS	umls:C0028326	BeFree	We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).	0.121085767	2007	HRAS;LRRC56	11	534289	C	T,G,A
rs121913530	17324647	3845	KRAS	umls:C0028326	BeFree	We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).	0.264970109	2007	KRAS	12	25245351	C	T,G,A
rs121913530	17324647	3265	HRAS	umls:C0028326	BeFree	We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene).	0.121085767	2007	KRAS	12	25245351	C	T,G,A
rs121918453	17177198	5781	PTPN11	umls:C0028326	BeFree	Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.	0.694446819	2007	PTPN11	12	112450394	G	A,C,T
rs121918453	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450394	G	A,C,T
rs121918454	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450395	C	G,T
rs121918455	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112477720	A	C,G
rs121918456	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112473023	A	C,G
rs121918456	12161596	5781	PTPN11	umls:C0028326	BeFree	We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.	0.694446819	2002	PTPN11	12	112473023	A	C,G
rs121918457	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112488466	C	T
rs121918458	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112489080	T	A,G
rs121918459	22711529	52	ACP1	umls:C0028326	BeFree	Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.	0.00434307	2012	PTPN11	12	112450368	A	G
rs121918459	22711529	5781	PTPN11	umls:C0028326	BeFree	Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.	0.694446819	2012	PTPN11	12	112450368	A	G
rs121918459	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450368	A	G
rs121918460	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450364	T	A,G
rs121918460	22711529	52	ACP1	umls:C0028326	BeFree	Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.	0.00434307	2012	PTPN11	12	112450364	T	A,G
rs121918460	22711529	5781	PTPN11	umls:C0028326	BeFree	Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.	0.694446819	2012	PTPN11	12	112450364	T	A,G
rs121918461	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450362	A	C,G,T
rs121918462	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450398	C	T
rs121918462	23446178	5781	PTPN11	umls:C0028326	BeFree	A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.	0.694446819	2012	PTPN11	12	112450398	C	T
rs121918463	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112477651	T	A,C,G
rs121918464	17177198	5781	PTPN11	umls:C0028326	BeFree	Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.	0.694446819	2007	PTPN11	12	112450406	G	A,C
rs121918464	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450406	G	A,C
rs121918466	17641779	5781	PTPN11	umls:C0028326	BeFree	To understand the developmental stage- and cell type-specific consequences of the NS SHP2 gain-of-function mutation, Q79R, we generated transgenic mice in which the mutated protein was expressed during gestation or following birth in cardiomyocytes.	0.694446819	2007	PTPN11	12	112450416	A	G
rs121918466	16166557	5781	PTPN11	umls:C0028326	BeFree	Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.	0.694446819	2005	PTPN11	12	112450416	A	G
rs121918466	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450416	A	G
rs137852812	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39051211	G	T
rs137852813	24522193	56731	SLC2A4RG	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39051202	A	G,C
rs137852813	24522193	9181	ARHGEF2	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39051202	A	G,C
rs137852813	24522193	6654	SOS1	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.392971407	2014	SOS1	2	39051202	A	G,C
rs137852814	24522193	56731	SLC2A4RG	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39022774	T	C
rs137852814	24522193	9181	ARHGEF2	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39022774	T	C
rs137852814	24522193	6654	SOS1	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.392971407	2014	SOS1	2	39022774	T	C
rs137852814	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39022774	T	C
rs267607079	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39022772	C	G,A
rs28933386	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112477719	A	G
rs28933387	11992261	5781	PTPN11	umls:C0028326	UNIPROT	PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.	0.694446819	2002	NA	NA	NA	NA	NA
rs3730271	23391722	5894	RAF1	umls:C0028326	BeFree	Excessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of abnormal lymphatics seen in Noonan syndrome and similar RASopathies. Inhibition of ERK signaling during development abrogated the lymphatic differentiation program and rescued the lymphatic phenotypes induced by expression of RAF1(S259A).	0.383884342	2013	RAF1	3	12604195	A	T,G
rs397507501	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112446385	A	G
rs397507505	16804314	5781	PTPN11	umls:C0028326	BeFree	Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?	0.694446819	2006	PTPN11	12	112450352	A	C,G,T
rs397507514	17177198	5781	PTPN11	umls:C0028326	BeFree	Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.	0.694446819	2007	PTPN11	12	112450408	G	C,T
rs397507517	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112450497	A	C
rs397507520	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112453279	G	C,T
rs397507520	22315187	5781	PTPN11	umls:C0028326	BeFree	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.	0.694446819	2012	PTPN11	12	112453279	G	C,T
rs397507539	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112489047	C	A,G,T
rs397507540	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112489048	C	A,T
rs397507545	24754368	5781	PTPN11	umls:C0028326	BeFree	The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.	0.694446819	2015	PTPN11	12	112489083	G	A,C
rs397507545	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112489083	G	A,C
rs397507547	NA	5781	PTPN11	umls:C0028326	CLINVAR	NA	0.694446819	NA	PTPN11	12	112489086	A	G
rs397507548	22528600	5781	PTPN11	umls:C0028326	BeFree	We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene.	0.694446819	2012	PTPN11	12	112489093	A	C
rs397509345	22528600	5781	PTPN11	umls:C0028326	BeFree	We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene.	0.694446819	2012	NA	NA	NA	NA	NA
rs397516830	NA	5894	RAF1	umls:C0028326	CLINVAR	NA	0.383884342	NA	RAF1	3	12604182	A	C
rs397517147	18456719	6654	SOS1	umls:C0028326	BeFree	The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS.	0.392971407	2008	SOS1	2	39023131	C	T
rs397517150	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39023118	A	G,C
rs397517154	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39022773	C	T,G
rs397517159	24522193	9181	ARHGEF2	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39007168	C	T
rs397517159	24522193	56731	SLC2A4RG	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.000542884	2014	SOS1	2	39007168	C	T
rs397517159	24522193	6654	SOS1	umls:C0028326	BeFree	Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).	0.392971407	2014	SOS1	2	39007168	C	T
rs587782971	NA	5894	RAF1	umls:C0028326	CLINVAR	NA	0.383884342	NA	RAF1	3	12608895	A	G
rs587782972	NA	5894	RAF1	umls:C0028326	CLINVAR	NA	0.383884342	NA	RAF1	3	12591729	C	A
rs727505381	NA	6654	SOS1	umls:C0028326	CLINVAR	NA	0.392971407	NA	SOS1	2	39013523	A	G
rs80338796	NA	5894	RAF1	umls:C0028326	CLINVAR	NA	0.383884342	NA	RAF1	3	12604200	G	C,A

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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