SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2)

Gene

• Entrez ID: 6655
• Gene name: SOS Ras/Rho guanine nucleotide exchange factor 2
• Gene symbol: SOS2
• Synonyms (NCBI Gene): NS9, SOS-2
• Disease Acronyms (UniProt): NS9
• Chromosome: 14
• Chromosome location: 14q21.3
• Summary: This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs775506222	AAT>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs797045167	A>C,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869320687	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1594982548	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595001710	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019010	hsa-miR-335-5p	Microarray	18185580
MIRT023126	hsa-miR-124-3p	Microarray	18668037
MIRT046544	hsa-miR-1-3p	CLASH	23622248
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT653244	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32667746
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT1379986	hsa-miR-1179	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379988	hsa-miR-1245b-5p	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1379991	hsa-miR-1276	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380002	hsa-miR-199a-3p	CLIP-seq
MIRT1380003	hsa-miR-199b-3p	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380006	hsa-miR-204	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380009	hsa-miR-21	CLIP-seq
MIRT1380010	hsa-miR-211	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380012	hsa-miR-224	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT1380016	hsa-miR-3119	CLIP-seq
MIRT1380017	hsa-miR-3129-5p	CLIP-seq
MIRT1380018	hsa-miR-3140-3p	CLIP-seq
MIRT1380019	hsa-miR-3142	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380021	hsa-miR-330-3p	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380028	hsa-miR-3653	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380033	hsa-miR-383	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380038	hsa-miR-4311	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380040	hsa-miR-4511	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380045	hsa-miR-4680-5p	CLIP-seq
MIRT1380046	hsa-miR-4714-5p	CLIP-seq
MIRT1380047	hsa-miR-4753-5p	CLIP-seq
MIRT1380048	hsa-miR-4772-5p	CLIP-seq
MIRT1380049	hsa-miR-4773	CLIP-seq
MIRT1380050	hsa-miR-4793-5p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380054	hsa-miR-508-3p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380060	hsa-miR-548a-5p	CLIP-seq
MIRT1380061	hsa-miR-548ab	CLIP-seq
MIRT1380062	hsa-miR-548ak	CLIP-seq
MIRT1380063	hsa-miR-548b-3p	CLIP-seq
MIRT1380064	hsa-miR-548b-5p	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380066	hsa-miR-548c-5p	CLIP-seq
MIRT1380067	hsa-miR-548d-5p	CLIP-seq
MIRT1380068	hsa-miR-548h	CLIP-seq
MIRT1380069	hsa-miR-548i	CLIP-seq
MIRT1380070	hsa-miR-548j	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380072	hsa-miR-548l	CLIP-seq
MIRT1380073	hsa-miR-548w	CLIP-seq
MIRT1380074	hsa-miR-548y	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380076	hsa-miR-559	CLIP-seq
MIRT1380077	hsa-miR-562	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380080	hsa-miR-583	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380082	hsa-miR-590-5p	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380089	hsa-miR-936	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1553943	hsa-miR-193a-3p	CLIP-seq
MIRT1553944	hsa-miR-193b	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1553945	hsa-miR-892b	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT2113630	hsa-miR-135a	CLIP-seq
MIRT2113631	hsa-miR-135b	CLIP-seq
MIRT2113632	hsa-miR-154	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT2113633	hsa-miR-3123	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT2113635	hsa-miR-3925-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT2113636	hsa-miR-4274	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT2113637	hsa-miR-4493	CLIP-seq
MIRT2113638	hsa-miR-4519	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT2113639	hsa-miR-4524	CLIP-seq
MIRT2113640	hsa-miR-4635	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT2113641	hsa-miR-513b	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT2336553	hsa-miR-129-5p	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT2433367	hsa-miR-4744	CLIP-seq
MIRT2433368	hsa-miR-4760-3p	CLIP-seq
MIRT2433369	hsa-miR-548u	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT2433370	hsa-miR-598	CLIP-seq
MIRT2433371	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7629138, 14679214, 17474147, 19380743, 20936779, 21706016, 21988832, 28514442, 31980649
GO:0005829	Component	Cytosol	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA

Other IDs

• MIM: 601247
• HGNC: 11188
• e!Ensembl: ENSG00000100485

Protein

• UniProt ID: Q07890
• Protein name: Son of sevenless homolog 2 (SOS-2)
• Protein function: Promotes the exchange of Ras-bound GDP by GTP.
• PDB: 6EIE, 8T5G, 8T5M, 8T5R, 8UC9, 8UF2, 8UH0, 9BVE, 9BVF, 9BVI, 9GIN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	54 → 169	Core histone H2A/H2B/H3/H4	Domain
  PF00621	RhoGEF	203 → 386	RhoGEF domain	Domain
  PF00169	PH	426 → 544	PH domain	Domain
  PF00618	RasGEF_N	598 → 715	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	781 → 960	RasGEF domain	Family

• Sequence:

  MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLC
  MAQPRTVQDVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGY
  KVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD
  IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDI
  EKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDI
  LSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWHYFELLKQLKA
  CSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKM
  NEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPG
  YSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALI
  SLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIK
  GGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLA
  IEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVR
  GKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPI
  EIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVEA
  ENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILD
  EAVELSQDHFKKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRR
  KVAEITGEIQQYQNQPYCLRIEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCK
  QPPRFPRKSTFSLKSPGIRPNTGRHGSTSGTLRGHPTPLEREPCKISFSRIAETELESTV
  SAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAPVLLPHSKSFFSSCGSLHKLS
  EEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVPVPTGAFDGPL
  HSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPS
  TPPSTPSPRVPRRCYVLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLY
  RLPLLENAETPQ

• Sequence length: 1332

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Thermogenesis
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Estrogen signaling pathway
Prolactin signaling pathway
Relaxin signaling pathway
Growth hormone synthesis, secretion and action
Alcoholism
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Endometrial cancer
Glioma
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Choline metabolism in cancer

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events
Interleukin-15 signaling

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cardiofaciocutaneous syndrome	Cardio-facio-cutaneous syndrome	rs121434497, rs121434498, rs121434499, rs267607230, rs121913530, rs104894359, rs104894360, rs104894366, rs104894361, rs104894362, rs121908594, rs121908595, rs121908596, rs121913348, rs180177034, rs121913357, rs180177035, rs121913355, rs180177036, rs180177039, rs180177040, rs180177041, rs387906660, rs387906661, rs387906800, rs387907205, rs387907206, rs397507465, rs397507466, rs397507473, rs397507474, rs397507475, rs397507476, rs397507479, rs397507480, rs397507483, rs113488022, rs397507484, rs397516792, rs397516793, rs730880517, rs397516790, rs727504317, rs727504382, rs397516791, rs397516892, rs397516893, rs180177038, rs397516894, rs397516895, rs397516904, rs121913341, rs180177042, rs727504370, rs797044593, rs794729219, rs869025339, rs869025606, rs869025608, rs876657651, rs886041310, rs727504819, rs121913349, rs121913337, rs121913338, rs1057519732, rs1057519733, rs1057519805, rs1057519806, rs1135401787, rs1586126581, rs1586140436, rs1586140512, rs1595860875, rs1599307313, rs2041142587
Costello syndrome	Costello syndrome (disorder)	rs104894230, rs104894229, rs104894226, rs104894227, rs104894228, rs104894231, rs121917756, rs121917757, rs121917758, rs121917759, rs398122808, rs398122809, rs727503093, rs730880460, rs587777239, rs727504747, rs727503094, rs1554884966, rs1589792804
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Leopard syndrome	LEOPARD Syndrome	rs28933386, rs121918455, rs121918456, rs121918461, rs121918457, rs121918462, rs121918463, rs121918468, rs121918469, rs121918470, rs267606990, rs80338796, rs80338797, rs180177035, rs387906661, rs397507466, rs397507505, rs397507510, rs397507519, rs376607329, rs397507527, rs397507531, rs397507540, rs397507541, rs397507542, rs397507546, rs397507548, rs397507549, rs397507550, rs397516813, rs397516801, rs397516827, rs727503380, rs1575573330
Noonan syndrome	Noonan Syndrome, NOONAN SYNDROME 9, Noonan Syndrome 1, Noonan syndrome	rs121434312, rs267607048, rs121434499, rs113954997, rs104894359, rs104894360, rs104894364, rs104894365, rs104894366, rs104894367, rs193929331, rs28933406, rs104894230, rs104894226, rs104894228, rs137852812, rs137852813, rs137852814, rs267607079, rs267607080, rs121918453, rs121918454, rs28933386, rs121918455, rs121918456, rs121918460, rs121918461, rs121918457, rs121918458, rs121918459, rs121918462, rs121918463, rs121918465, rs121918466, rs121918468, rs121918469, rs121918470, rs80338836, rs267606990, rs121908595, rs267606704, rs121434595, rs11554290, rs121434596, rs267606921, rs267606920, rs80338796, rs121434594, rs80338799, rs80338797, rs180177034, rs121913369, rs180177035, rs121913355, rs180177037, rs180177040, rs387906660, rs606231228, rs397514553, rs121913237, rs397507466, rs397507467, rs121913348, rs397507473, rs397507475, rs180177039, rs397507477, rs397507480, rs121913375, rs397507484, rs727503110, rs730880471, rs121913250, rs397507501, rs397507503, rs397507504, rs397507505, rs397507506, rs397507507, rs397507509, rs397507510, rs397507511, rs397507512, rs397507513, rs397507514, rs397507517, rs397507518, rs397507519, rs397507520, rs397507523, rs397507524, rs397507525, rs397507526, rs376607329, rs397507527, rs397507529, rs397507530, rs397507531, rs397507537, rs397507539, rs397507540, rs397507541, rs397507543, rs397507544, rs397507545, rs397507546, rs397507547, rs397507548, rs397507549, rs397507550, rs397516826, rs727505017, rs3730271, rs397516827, rs397516828, rs397516830, rs397516813, rs730881002, rs730881003, rs397516815, rs730881054, rs397517164, rs397517172, rs397517147, rs397517148, rs727504295, rs397517149, rs730881045, rs397517153, rs397517154, rs727505381, rs397517156, rs574088829, rs397517159, rs397516792, rs397516791, rs397516801, rs397516802, rs397516803, rs397516809, rs397516810, rs397516825, rs397516829, rs397516891, rs397516903, rs397516904, rs397516905, rs397517041, rs397517042, rs397517076, rs397517077, rs397517146, rs397517150, rs397517163, rs397517174, rs397517180, rs397509343, rs672601334, rs672601335, rs587777179, rs587777180, rs483352822, rs587777613, rs202247812, rs121913233, rs727503384, rs121913341, rs180177036, rs180177042, rs121913357, rs727504426, rs727503380, rs727503381, rs727504662, rs727504370, rs727504170, rs727503996, rs730881014, rs267606706, rs121918464, rs869025197, rs869025196, rs869025195, rs869025194, rs869025193, rs869025192, rs869025191, rs869025189, rs869320686, rs797045165, rs797045166, rs869320687, rs797045167, rs864622410, rs869025340, rs869025573, rs869312687, rs876657651, rs886037952, rs886039607, rs886039463, rs777520196, rs886041414, rs189150283, rs868208063, rs1057519732, rs121913496, rs1057519963, rs781431741, rs1135401776, rs1555194026, rs1460026299, rs1553362937, rs1052382672, rs1553196539, rs149850248, rs1398859175, rs761685529, rs1034395178, rs1194536394, rs1555928249, rs750777752, rs1555391053, rs1553610155, rs145594158, rs770933647, rs777243508, rs1390048261, rs1223430276, rs1557962794, rs1249726034, rs150419186, rs782457908, rs1591495767, rs1591495776, rs1591495779, rs1576359216, rs1576387876, rs1576387885, rs727505093, rs1601718760, rs1592808357, rs1592798693, rs869025501, rs397507478, rs1572830693, rs1594982548, rs1458682620, rs1571999498, rs1572830219, rs1593351503, rs1592852902, rs1671004485, rs1673399238, rs397507536	23875798, 10938118, 25795793, 26173643
Noonan-like syndrome with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair, Noonan syndrome-like disorder with loose anagen hair	rs267607048, rs730881020, rs886037952, rs886037954, rs886037955, rs1114167429, rs1553311527
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Radioulnar synostosis	Radioulnar Synostosis	rs1595756416, rs1595756703, rs1231501584, rs1595756962, rs1595757203, rs1595763070, rs1595766210
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Noonan Syndrome	Noonan syndrome			GenCC
Gout	Gout			GWAS
Hypertension	Hypertension			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Chronic Periodontitis	Associate	24347629
Heart Defects Congenital	Associate	32788663
Heart Diseases	Associate	32788663
Hemochromatosis	Associate	23761422
Hydrops Fetalis	Associate	36959127
Laron Syndrome	Associate	34136918
Leukemia Lymphoma Adult T Cell	Associate	37832654
Lymphatic Abnormalities	Associate	32788663, 35979676
Lymphatic Diseases	Associate	32788663
Noonan Syndrome	Associate	32788663, 34136918
Turner Syndrome	Associate	23761422