SPRED2 (sprouty related EVH1 domain containing 2)

Gene

• Entrez ID: 200734
• Gene name: Sprouty related EVH1 domain containing 2
• Gene symbol: SPRED2
• Synonyms (NCBI Gene): NS14, Spred-2
• Chromosome: 2
• Chromosome location: 2p14
• Summary: SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021167	hsa-miR-186-5p	Sequencing	20371350
MIRT569487	hsa-miR-6776-3p	PAR-CLIP	20371350
MIRT569485	hsa-miR-4715-5p	PAR-CLIP	20371350
MIRT569486	hsa-miR-1914-5p	PAR-CLIP	20371350
MIRT569484	hsa-miR-192-5p	PAR-CLIP	20371350
MIRT569483	hsa-miR-215-5p	PAR-CLIP	20371350
MIRT569482	hsa-miR-647	PAR-CLIP	20371350
MIRT569481	hsa-miR-6842-3p	PAR-CLIP	20371350
MIRT569480	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT569486	hsa-miR-1914-5p	PAR-CLIP	26701625
MIRT569484	hsa-miR-192-5p	PAR-CLIP	26701625
MIRT569484	hsa-miR-192-5p	PAR-CLIP	26701625
MIRT569484	hsa-miR-192-5p	PAR-CLIP	26701625
MIRT569483	hsa-miR-215-5p	PAR-CLIP	26701625
MIRT569483	hsa-miR-215-5p	PAR-CLIP	26701625
MIRT569483	hsa-miR-215-5p	PAR-CLIP	26701625
MIRT569485	hsa-miR-4715-5p	PAR-CLIP	26701625
MIRT569485	hsa-miR-4715-5p	PAR-CLIP	26701625
MIRT569485	hsa-miR-4715-5p	PAR-CLIP	26701625
MIRT569482	hsa-miR-647	PAR-CLIP	26701625
MIRT569482	hsa-miR-647	PAR-CLIP	26701625
MIRT569482	hsa-miR-647	PAR-CLIP	26701625
MIRT569487	hsa-miR-6776-3p	PAR-CLIP	26701625
MIRT569487	hsa-miR-6776-3p	PAR-CLIP	26701625
MIRT569487	hsa-miR-6776-3p	PAR-CLIP	26701625
MIRT569480	hsa-miR-6822-5p	PAR-CLIP	26701625
MIRT569480	hsa-miR-6822-5p	PAR-CLIP	26701625
MIRT569480	hsa-miR-6822-5p	PAR-CLIP	26701625
MIRT569481	hsa-miR-6842-3p	PAR-CLIP	26701625
MIRT569481	hsa-miR-6842-3p	PAR-CLIP	26701625
MIRT569481	hsa-miR-6842-3p	PAR-CLIP	26701625
MIRT732503	hsa-miR-1246	Immunohistochemistry (IHC), Immunoprecipitaion (IP), Luciferase reporter assay, qRT-PCR, Western blotting	31492150
MIRT569487	hsa-miR-6776-3p	PAR-CLIP	20371350
MIRT569485	hsa-miR-4715-5p	PAR-CLIP	20371350
MIRT569486	hsa-miR-1914-5p	PAR-CLIP	20371350
MIRT569484	hsa-miR-192-5p	PAR-CLIP	20371350
MIRT569483	hsa-miR-215-5p	PAR-CLIP	20371350
MIRT569482	hsa-miR-647	PAR-CLIP	20371350
MIRT569481	hsa-miR-6842-3p	PAR-CLIP	20371350
MIRT569480	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT1385722	hsa-miR-1	CLIP-seq
MIRT1385723	hsa-miR-1184	CLIP-seq
MIRT1385724	hsa-miR-1229	CLIP-seq
MIRT1385725	hsa-miR-1253	CLIP-seq
MIRT1385726	hsa-miR-1257	CLIP-seq
MIRT1385727	hsa-miR-1265	CLIP-seq
MIRT1385728	hsa-miR-1272	CLIP-seq
MIRT1385729	hsa-miR-1275	CLIP-seq
MIRT1385730	hsa-miR-1286	CLIP-seq
MIRT1385731	hsa-miR-1301	CLIP-seq
MIRT1385732	hsa-miR-1305	CLIP-seq
MIRT1385733	hsa-miR-140-3p	CLIP-seq
MIRT1385734	hsa-miR-141	CLIP-seq
MIRT1385735	hsa-miR-186	CLIP-seq
MIRT1385736	hsa-miR-1914	CLIP-seq
MIRT1385737	hsa-miR-200a	CLIP-seq
MIRT1385738	hsa-miR-2052	CLIP-seq
MIRT1385739	hsa-miR-2053	CLIP-seq
MIRT1385740	hsa-miR-206	CLIP-seq
MIRT1385741	hsa-miR-218	CLIP-seq
MIRT1385742	hsa-miR-2392	CLIP-seq
MIRT1385743	hsa-miR-3064-5p	CLIP-seq
MIRT1385744	hsa-miR-3123	CLIP-seq
MIRT1385745	hsa-miR-3133	CLIP-seq
MIRT1385746	hsa-miR-3153	CLIP-seq
MIRT1385747	hsa-miR-3163	CLIP-seq
MIRT1385748	hsa-miR-3182	CLIP-seq
MIRT1385749	hsa-miR-3198	CLIP-seq
MIRT1385750	hsa-miR-340	CLIP-seq
MIRT1385751	hsa-miR-342-3p	CLIP-seq
MIRT1385752	hsa-miR-3545-3p	CLIP-seq
MIRT1385753	hsa-miR-3591-5p	CLIP-seq
MIRT1385754	hsa-miR-3612	CLIP-seq
MIRT1385755	hsa-miR-3652	CLIP-seq
MIRT1385756	hsa-miR-3662	CLIP-seq
MIRT1385757	hsa-miR-3667-3p	CLIP-seq
MIRT1385758	hsa-miR-3673	CLIP-seq
MIRT1385759	hsa-miR-3674	CLIP-seq
MIRT1385760	hsa-miR-3682-3p	CLIP-seq
MIRT1385761	hsa-miR-3682-5p	CLIP-seq
MIRT1385762	hsa-miR-3925-5p	CLIP-seq
MIRT1385763	hsa-miR-3941	CLIP-seq
MIRT1385764	hsa-miR-3977	CLIP-seq
MIRT1385765	hsa-miR-409-3p	CLIP-seq
MIRT1385766	hsa-miR-421	CLIP-seq
MIRT1385767	hsa-miR-4255	CLIP-seq
MIRT1385768	hsa-miR-4257	CLIP-seq
MIRT1385769	hsa-miR-4260	CLIP-seq
MIRT1385770	hsa-miR-4264	CLIP-seq
MIRT1385771	hsa-miR-4269	CLIP-seq
MIRT1385772	hsa-miR-4276	CLIP-seq
MIRT1385773	hsa-miR-4292	CLIP-seq
MIRT1385774	hsa-miR-4307	CLIP-seq
MIRT1385775	hsa-miR-4308	CLIP-seq
MIRT1385776	hsa-miR-4309	CLIP-seq
MIRT1385777	hsa-miR-4327	CLIP-seq
MIRT1385778	hsa-miR-4418	CLIP-seq
MIRT1385779	hsa-miR-4430	CLIP-seq
MIRT1385780	hsa-miR-4443	CLIP-seq
MIRT1385781	hsa-miR-4496	CLIP-seq
MIRT1385782	hsa-miR-4505	CLIP-seq
MIRT1385783	hsa-miR-450b-5p	CLIP-seq
MIRT1385784	hsa-miR-4511	CLIP-seq
MIRT1385785	hsa-miR-4514	CLIP-seq
MIRT1385786	hsa-miR-4521	CLIP-seq
MIRT1385787	hsa-miR-4653-3p	CLIP-seq
MIRT1385788	hsa-miR-466	CLIP-seq
MIRT1385789	hsa-miR-4660	CLIP-seq
MIRT1385790	hsa-miR-4662a-3p	CLIP-seq
MIRT1385791	hsa-miR-4665-5p	CLIP-seq
MIRT1385792	hsa-miR-4666-5p	CLIP-seq
MIRT1385793	hsa-miR-4668-5p	CLIP-seq
MIRT1385794	hsa-miR-4672	CLIP-seq
MIRT1385795	hsa-miR-4692	CLIP-seq
MIRT1385796	hsa-miR-4699-3p	CLIP-seq
MIRT1385797	hsa-miR-4709-5p	CLIP-seq
MIRT1385798	hsa-miR-4711-5p	CLIP-seq
MIRT1385799	hsa-miR-4722-5p	CLIP-seq
MIRT1385800	hsa-miR-4732-5p	CLIP-seq
MIRT1385801	hsa-miR-4738-3p	CLIP-seq
MIRT1385802	hsa-miR-4742-5p	CLIP-seq
MIRT1385803	hsa-miR-4744	CLIP-seq
MIRT1385804	hsa-miR-4764-5p	CLIP-seq
MIRT1385805	hsa-miR-4768-3p	CLIP-seq
MIRT1385806	hsa-miR-4775	CLIP-seq
MIRT1385807	hsa-miR-4790-3p	CLIP-seq
MIRT1385808	hsa-miR-4795-3p	CLIP-seq
MIRT1385809	hsa-miR-4796-3p	CLIP-seq
MIRT1385810	hsa-miR-4797-3p	CLIP-seq
MIRT1385811	hsa-miR-4802-3p	CLIP-seq
MIRT1385812	hsa-miR-485-3p	CLIP-seq
MIRT1385813	hsa-miR-485-5p	CLIP-seq
MIRT1385814	hsa-miR-486-3p	CLIP-seq
MIRT1385815	hsa-miR-487a	CLIP-seq
MIRT1385816	hsa-miR-493	CLIP-seq
MIRT1385817	hsa-miR-499-3p	CLIP-seq
MIRT1385818	hsa-miR-499a-3p	CLIP-seq
MIRT1385819	hsa-miR-5047	CLIP-seq
MIRT1385820	hsa-miR-507	CLIP-seq
MIRT1385821	hsa-miR-509-3-5p	CLIP-seq
MIRT1385822	hsa-miR-509-5p	CLIP-seq
MIRT1385823	hsa-miR-520g	CLIP-seq
MIRT1385824	hsa-miR-520h	CLIP-seq
MIRT1385825	hsa-miR-552	CLIP-seq
MIRT1385826	hsa-miR-557	CLIP-seq
MIRT1385827	hsa-miR-568	CLIP-seq
MIRT1385828	hsa-miR-569	CLIP-seq
MIRT1385829	hsa-miR-572	CLIP-seq
MIRT1385830	hsa-miR-602	CLIP-seq
MIRT1385831	hsa-miR-613	CLIP-seq
MIRT1385832	hsa-miR-622	CLIP-seq
MIRT1385833	hsa-miR-629	CLIP-seq
MIRT1385834	hsa-miR-636	CLIP-seq
MIRT1385835	hsa-miR-643	CLIP-seq
MIRT1385836	hsa-miR-650	CLIP-seq
MIRT1385837	hsa-miR-659	CLIP-seq
MIRT1385838	hsa-miR-718	CLIP-seq
MIRT1385839	hsa-miR-885-3p	CLIP-seq
MIRT1385840	hsa-miR-105	CLIP-seq
MIRT1385841	hsa-miR-1207-5p	CLIP-seq
MIRT1385842	hsa-miR-1224-5p	CLIP-seq
MIRT1385843	hsa-miR-1255a	CLIP-seq
MIRT1385844	hsa-miR-1255b	CLIP-seq
MIRT1385845	hsa-miR-1304	CLIP-seq
MIRT1385734	hsa-miR-141	CLIP-seq
MIRT1385846	hsa-miR-183	CLIP-seq
MIRT1385847	hsa-miR-185	CLIP-seq
MIRT1385735	hsa-miR-186	CLIP-seq
MIRT1385848	hsa-miR-1909	CLIP-seq
MIRT1385737	hsa-miR-200a	CLIP-seq
MIRT1385739	hsa-miR-2053	CLIP-seq
MIRT1385849	hsa-miR-219-5p	CLIP-seq
MIRT1385745	hsa-miR-3133	CLIP-seq
MIRT1385850	hsa-miR-3146	CLIP-seq
MIRT1385747	hsa-miR-3163	CLIP-seq
MIRT1385851	hsa-miR-320a	CLIP-seq
MIRT1385852	hsa-miR-320b	CLIP-seq
MIRT1385853	hsa-miR-320c	CLIP-seq
MIRT1385854	hsa-miR-320d	CLIP-seq
MIRT1385855	hsa-miR-331-5p	CLIP-seq
MIRT1385750	hsa-miR-340	CLIP-seq
MIRT1385856	hsa-miR-3915	CLIP-seq
MIRT1385857	hsa-miR-3920	CLIP-seq
MIRT1385858	hsa-miR-3928	CLIP-seq
MIRT1385763	hsa-miR-3941	CLIP-seq
MIRT1385764	hsa-miR-3977	CLIP-seq
MIRT1385859	hsa-miR-409-5p	CLIP-seq
MIRT1385768	hsa-miR-4257	CLIP-seq
MIRT1385860	hsa-miR-4265	CLIP-seq
MIRT1385771	hsa-miR-4269	CLIP-seq
MIRT1385861	hsa-miR-4296	CLIP-seq
MIRT1385862	hsa-miR-4302	CLIP-seq
MIRT1385863	hsa-miR-4306	CLIP-seq
MIRT1385864	hsa-miR-4322	CLIP-seq
MIRT1385865	hsa-miR-4417	CLIP-seq
MIRT1385866	hsa-miR-4429	CLIP-seq
MIRT1385867	hsa-miR-4445	CLIP-seq
MIRT1385868	hsa-miR-4453	CLIP-seq
MIRT1385869	hsa-miR-4470	CLIP-seq
MIRT1385870	hsa-miR-4474-3p	CLIP-seq
MIRT1385781	hsa-miR-4496	CLIP-seq
MIRT1385783	hsa-miR-450b-5p	CLIP-seq
MIRT1385785	hsa-miR-4514	CLIP-seq
MIRT1385871	hsa-miR-4538	CLIP-seq
MIRT1385872	hsa-miR-4644	CLIP-seq
MIRT1385788	hsa-miR-466	CLIP-seq
MIRT1385794	hsa-miR-4672	CLIP-seq
MIRT1385873	hsa-miR-4678	CLIP-seq
MIRT1385874	hsa-miR-4689	CLIP-seq
MIRT1385795	hsa-miR-4692	CLIP-seq
MIRT1385875	hsa-miR-4716-3p	CLIP-seq
MIRT1385876	hsa-miR-4723-5p	CLIP-seq
MIRT1385802	hsa-miR-4742-5p	CLIP-seq
MIRT1385877	hsa-miR-4762-3p	CLIP-seq
MIRT1385878	hsa-miR-4763-3p	CLIP-seq
MIRT1385804	hsa-miR-4764-5p	CLIP-seq
MIRT1385806	hsa-miR-4775	CLIP-seq
MIRT1385879	hsa-miR-4782-3p	CLIP-seq
MIRT1385808	hsa-miR-4795-3p	CLIP-seq
MIRT1385812	hsa-miR-485-3p	CLIP-seq
MIRT1385815	hsa-miR-487a	CLIP-seq
MIRT1385817	hsa-miR-499-3p	CLIP-seq
MIRT1385818	hsa-miR-499a-3p	CLIP-seq
MIRT1385880	hsa-miR-508-3p	CLIP-seq
MIRT1385881	hsa-miR-518a-5p	CLIP-seq
MIRT1385882	hsa-miR-527	CLIP-seq
MIRT1385825	hsa-miR-552	CLIP-seq
MIRT1385827	hsa-miR-568	CLIP-seq
MIRT1385883	hsa-miR-599	CLIP-seq
MIRT1385884	hsa-miR-604	CLIP-seq
MIRT1385835	hsa-miR-643	CLIP-seq
MIRT1385837	hsa-miR-659	CLIP-seq
MIRT2115462	hsa-miR-1207-3p	CLIP-seq
MIRT2115463	hsa-miR-1208	CLIP-seq
MIRT1385725	hsa-miR-1253	CLIP-seq
MIRT2115464	hsa-miR-1256	CLIP-seq
MIRT1385729	hsa-miR-1275	CLIP-seq
MIRT1385739	hsa-miR-2053	CLIP-seq
MIRT1385746	hsa-miR-3153	CLIP-seq
MIRT2115465	hsa-miR-3185	CLIP-seq
MIRT2115466	hsa-miR-3202	CLIP-seq
MIRT2115467	hsa-miR-329	CLIP-seq
MIRT2115468	hsa-miR-3605-5p	CLIP-seq
MIRT2115469	hsa-miR-362-3p	CLIP-seq
MIRT2115470	hsa-miR-3688-5p	CLIP-seq
MIRT1385763	hsa-miR-3941	CLIP-seq
MIRT1385764	hsa-miR-3977	CLIP-seq
MIRT2115471	hsa-miR-3978	CLIP-seq
MIRT1385771	hsa-miR-4269	CLIP-seq
MIRT2115472	hsa-miR-4271	CLIP-seq
MIRT1385862	hsa-miR-4302	CLIP-seq
MIRT2115473	hsa-miR-4423-3p	CLIP-seq
MIRT1385785	hsa-miR-4514	CLIP-seq
MIRT2115474	hsa-miR-4533	CLIP-seq
MIRT2115475	hsa-miR-4646-5p	CLIP-seq
MIRT1385791	hsa-miR-4665-5p	CLIP-seq
MIRT1385793	hsa-miR-4668-5p	CLIP-seq
MIRT1385795	hsa-miR-4692	CLIP-seq
MIRT1385796	hsa-miR-4699-3p	CLIP-seq
MIRT2115476	hsa-miR-4725-3p	CLIP-seq
MIRT1385802	hsa-miR-4742-5p	CLIP-seq
MIRT1385804	hsa-miR-4764-5p	CLIP-seq
MIRT1385806	hsa-miR-4775	CLIP-seq
MIRT1385815	hsa-miR-487a	CLIP-seq
MIRT1385816	hsa-miR-493	CLIP-seq
MIRT2115477	hsa-miR-548c-3p	CLIP-seq
MIRT1385828	hsa-miR-569	CLIP-seq
MIRT2115478	hsa-miR-603	CLIP-seq
MIRT2115479	hsa-miR-605	CLIP-seq
MIRT2115480	hsa-miR-625	CLIP-seq
MIRT2115481	hsa-miR-644	CLIP-seq
MIRT2115482	hsa-miR-875-3p	CLIP-seq
MIRT2115462	hsa-miR-1207-3p	CLIP-seq
MIRT1385739	hsa-miR-2053	CLIP-seq
MIRT1385862	hsa-miR-4302	CLIP-seq
MIRT1385796	hsa-miR-4699-3p	CLIP-seq
MIRT2115466	hsa-miR-3202	CLIP-seq
MIRT2115474	hsa-miR-4533	CLIP-seq
MIRT1385735	hsa-miR-186	CLIP-seq
MIRT1385745	hsa-miR-3133	CLIP-seq
MIRT2631727	hsa-miR-3138	CLIP-seq
MIRT2631728	hsa-miR-3189-5p	CLIP-seq
MIRT2631729	hsa-miR-4261	CLIP-seq
MIRT2631730	hsa-miR-4323	CLIP-seq
MIRT2631731	hsa-miR-4487	CLIP-seq
MIRT1385796	hsa-miR-4699-3p	CLIP-seq
MIRT1385803	hsa-miR-4744	CLIP-seq
MIRT2631732	hsa-miR-4752	CLIP-seq
MIRT2631733	hsa-miR-4800-5p	CLIP-seq
MIRT1385816	hsa-miR-493	CLIP-seq
MIRT2631734	hsa-miR-556-5p	CLIP-seq
MIRT2115482	hsa-miR-875-3p	CLIP-seq
MIRT1385796	hsa-miR-4699-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005173	Function	Stem cell factor receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	19822672, 24705354, 25416956, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781, 34626534
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	ISS
GO:0016020	Component	Membrane	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	20736167
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	ISS	20736167
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	ISS
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043409	Process	Negative regulation of MAPK cascade	ISS
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS	20736167
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IBA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:1902532	Process	Negative regulation of intracellular signal transduction	IEA
GO:1902532	Process	Negative regulation of intracellular signal transduction	IMP	20736167
GO:1902747	Process	Negative regulation of lens fiber cell differentiation	ISS

Other IDs

• MIM: 609292
• HGNC: 17722
• e!Ensembl: ENSG00000198369

Protein

• UniProt ID: Q7Z698
• Protein name: Sprouty-related, EVH1 domain-containing protein 2 (Spred-2)
• Protein function: Negatively regulates Ras signaling pathways and downstream activation of MAP kinases (PubMed:15683364, PubMed:34626534). Recruits and translocates NF1 to the cell membrane, thereby enabling NF1-dependent hydrolysis of active GTP-bound Ras to ina
• PDB: 2JP2, 8EQ5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00568	WH1	7 → 119	WH1 domain	Domain
  PF05210	Sprouty	306 → 415	Sprouty protein (Spry)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in liver, skin, small intestine, salivary gland and prostate. {ECO:0000269|PubMed:15580519}.
• Sequence:

  MTEETHPDDDSYIVRVKAVVMTRDDSSGGWFPQEGGGISRVGVCKVMHPEGNGRSGFLIH
  GERQKDKLVVLECYVRKDLVYTKANPTFHHWKVDNRKFGLTFQSPADARAFDRGVRKAIE
  DLIEGSTTSSSTIHNEAELGDDDVFTTATDSSSNSSQKREQPTRTISSPTSCEHRRIYTL
  GHLHDSYPTDHYHLDQPMPRPYRQVSFPDDDEEIVRINPREKIWMTGYEDYRHAPVRGKY
  PDPSEDADSSYVRFAKGEVPKHDYNYPYVDSSDFGLGEDPKGRGGSVIKTQPSRGKSRRR
  KEDGERSRCVYCRDMFNHEENRRGHCQDAPDSVRTCIRRVSCMWCADSMLYHCMSDPEGD
  YTDPCSCDTSDEKFCLRWMALIALSFLAPCMCCYLPLRACYHCGVMCRCCGGKHKAAA

• Sequence length: 418

Pathways

Reactome:

Regulation of RAS by GAPs
FGFRL1 modulation of FGFR1 signaling
RAS signaling downstream of NF1 loss-of-function variants

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Noonan syndrome	Pathogenic	rs2104102138, rs2104216988, rs780902942	RCV001720326 RCV001720327 RCV001580210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 14	Pathogenic	rs2104102138, rs2104216988, rs780902942	RCV001836617 RCV001836618 RCV001836619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC STENOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe postnatal growth retardation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	15946934		★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	26830138		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32831971, 36924774, 36973646	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	36924774	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34818323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	34818323	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36902429	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	34818323	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	26254226		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32319644	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	33621197	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15946934		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	30723473		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	30723473		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASCAT_DG	21383967		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	35506187	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16652141		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21703232		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27028858	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26502338, 27399966		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	26254226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23169297		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30723473		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20153728, 25688862		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21703232, 23169297		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan syndrome	Pubtator	36608738, 38254922	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	BEFREE	30723473		★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	28070119		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33023313	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23169297		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23169297	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15215745	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453842, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	20453842, 22446963, 23143596, 24390342, 24782177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	20453842, 23143596, 24390342, 24532676, 24782177, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	34323598	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin lesion	Skin Lesion	BEFREE	28070119		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34818323	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27028858	Associate	★☆☆☆☆ Found in Text Mining only