RALGAPA2 (Ral GTPase activating protein catalytic subunit alpha 2)

Gene

• Entrez ID: 57186
• Gene name: Ral GTPase activating protein catalytic subunit alpha 2
• Gene symbol: RALGAPA2
• Synonyms (NCBI Gene): AS250, C20orf74, bA287B20.1, dJ1049G11, dJ1049G11.4, p220
• Chromosome: 20
• Chromosome location: 20p11.23

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018712	hsa-miR-335-5p	Microarray	18185580
MIRT051870	hsa-let-7c-5p	CLASH	23622248
MIRT532786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT532785	hsa-miR-4263	PAR-CLIP	22012620
MIRT532784	hsa-miR-576-5p	PAR-CLIP	22012620
MIRT469605	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT469604	hsa-miR-3175	PAR-CLIP	23592263
MIRT469603	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT469602	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT469600	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT469601	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT469599	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT469598	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT469597	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT532786	hsa-miR-627-3p	PAR-CLIP	22012620
MIRT532785	hsa-miR-4263	PAR-CLIP	22012620
MIRT532784	hsa-miR-576-5p	PAR-CLIP	22012620
MIRT469605	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT469604	hsa-miR-3175	PAR-CLIP	23592263
MIRT469603	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT469602	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT469600	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT469601	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT469599	hsa-miR-491-5p	PAR-CLIP	23592263
MIRT469598	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT469597	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT1288869	hsa-miR-1285	CLIP-seq
MIRT1288870	hsa-miR-1294	CLIP-seq
MIRT1288871	hsa-miR-1324	CLIP-seq
MIRT1288872	hsa-miR-1539	CLIP-seq
MIRT1288873	hsa-miR-15a	CLIP-seq
MIRT1288874	hsa-miR-15b	CLIP-seq
MIRT1288875	hsa-miR-16	CLIP-seq
MIRT1288876	hsa-miR-181a	CLIP-seq
MIRT1288877	hsa-miR-181b	CLIP-seq
MIRT1288878	hsa-miR-181c	CLIP-seq
MIRT1288879	hsa-miR-181d	CLIP-seq
MIRT1288880	hsa-miR-195	CLIP-seq
MIRT1288881	hsa-miR-19a	CLIP-seq
MIRT1288882	hsa-miR-19b	CLIP-seq
MIRT1288883	hsa-miR-2467-3p	CLIP-seq
MIRT1288884	hsa-miR-2861	CLIP-seq
MIRT1288885	hsa-miR-3183	CLIP-seq
MIRT1288886	hsa-miR-3187-5p	CLIP-seq
MIRT1288887	hsa-miR-326	CLIP-seq
MIRT1288888	hsa-miR-330-5p	CLIP-seq
MIRT1288889	hsa-miR-3607-5p	CLIP-seq
MIRT1288890	hsa-miR-3674	CLIP-seq
MIRT1288891	hsa-miR-3684	CLIP-seq
MIRT1288892	hsa-miR-370	CLIP-seq
MIRT1288893	hsa-miR-378g	CLIP-seq
MIRT1288894	hsa-miR-3923	CLIP-seq
MIRT1288895	hsa-miR-3977	CLIP-seq
MIRT1288896	hsa-miR-424	CLIP-seq
MIRT1288897	hsa-miR-4261	CLIP-seq
MIRT1288898	hsa-miR-4262	CLIP-seq
MIRT1288899	hsa-miR-4284	CLIP-seq
MIRT1288900	hsa-miR-4316	CLIP-seq
MIRT1288901	hsa-miR-4433	CLIP-seq
MIRT1288902	hsa-miR-4436b-3p	CLIP-seq
MIRT1288903	hsa-miR-4437	CLIP-seq
MIRT1288904	hsa-miR-4486	CLIP-seq
MIRT1288905	hsa-miR-4496	CLIP-seq
MIRT1288906	hsa-miR-4506	CLIP-seq
MIRT1288907	hsa-miR-4530	CLIP-seq
MIRT1288908	hsa-miR-4660	CLIP-seq
MIRT1288909	hsa-miR-4663	CLIP-seq
MIRT1288910	hsa-miR-4666-5p	CLIP-seq
MIRT1288911	hsa-miR-4699-3p	CLIP-seq
MIRT1288912	hsa-miR-4708-3p	CLIP-seq
MIRT1288913	hsa-miR-4721	CLIP-seq
MIRT1288914	hsa-miR-4722-5p	CLIP-seq
MIRT1288915	hsa-miR-4723-3p	CLIP-seq
MIRT1288916	hsa-miR-4747-5p	CLIP-seq
MIRT1288917	hsa-miR-4757-5p	CLIP-seq
MIRT1288918	hsa-miR-4768-3p	CLIP-seq
MIRT1288919	hsa-miR-4803	CLIP-seq
MIRT1288920	hsa-miR-494	CLIP-seq
MIRT1288921	hsa-miR-497	CLIP-seq
MIRT1288922	hsa-miR-543	CLIP-seq
MIRT1288923	hsa-miR-545	CLIP-seq
MIRT1288924	hsa-miR-570	CLIP-seq
MIRT1288925	hsa-miR-595	CLIP-seq
MIRT1288926	hsa-miR-612	CLIP-seq
MIRT1288927	hsa-miR-646	CLIP-seq
MIRT1288928	hsa-miR-661	CLIP-seq
MIRT1288929	hsa-miR-7	CLIP-seq
MIRT1288912	hsa-miR-4708-3p	CLIP-seq
MIRT2085645	hsa-miR-1202	CLIP-seq
MIRT2085646	hsa-miR-1257	CLIP-seq
MIRT2085647	hsa-miR-1266	CLIP-seq
MIRT2085648	hsa-miR-1290	CLIP-seq
MIRT2085649	hsa-miR-140-3p	CLIP-seq
MIRT2085650	hsa-miR-2052	CLIP-seq
MIRT2085651	hsa-miR-214	CLIP-seq
MIRT2085652	hsa-miR-2355-5p	CLIP-seq
MIRT2085653	hsa-miR-23a	CLIP-seq
MIRT2085654	hsa-miR-23b	CLIP-seq
MIRT2085655	hsa-miR-23c	CLIP-seq
MIRT2085656	hsa-miR-3120-3p	CLIP-seq
MIRT2085657	hsa-miR-3157-3p	CLIP-seq
MIRT2085658	hsa-miR-3157-5p	CLIP-seq
MIRT2085659	hsa-miR-3167	CLIP-seq
MIRT2085660	hsa-miR-3194-5p	CLIP-seq
MIRT2085661	hsa-miR-3611	CLIP-seq
MIRT2085662	hsa-miR-3619-5p	CLIP-seq
MIRT2085663	hsa-miR-3926	CLIP-seq
MIRT2085664	hsa-miR-3943	CLIP-seq
MIRT2085665	hsa-miR-3972	CLIP-seq
MIRT2085666	hsa-miR-412	CLIP-seq
MIRT2085667	hsa-miR-4286	CLIP-seq
MIRT2085668	hsa-miR-4317	CLIP-seq
MIRT2085669	hsa-miR-432	CLIP-seq
MIRT2085670	hsa-miR-4462	CLIP-seq
MIRT2085671	hsa-miR-4518	CLIP-seq
MIRT2085672	hsa-miR-4639-3p	CLIP-seq
MIRT2085673	hsa-miR-4690-3p	CLIP-seq
MIRT2085674	hsa-miR-4704-3p	CLIP-seq
MIRT2085675	hsa-miR-4755-3p	CLIP-seq
MIRT2085676	hsa-miR-4776-3p	CLIP-seq
MIRT2085677	hsa-miR-548s	CLIP-seq
MIRT2085678	hsa-miR-668	CLIP-seq
MIRT2085679	hsa-miR-758	CLIP-seq
MIRT2085680	hsa-miR-761	CLIP-seq
MIRT2085681	hsa-miR-874	CLIP-seq
MIRT2085682	hsa-miR-876-5p	CLIP-seq
MIRT2085683	hsa-miR-938	CLIP-seq
MIRT2310919	hsa-miR-1227	CLIP-seq
MIRT2310920	hsa-miR-1251	CLIP-seq
MIRT2085649	hsa-miR-140-3p	CLIP-seq
MIRT2310921	hsa-miR-142-5p	CLIP-seq
MIRT2310922	hsa-miR-1827	CLIP-seq
MIRT2310923	hsa-miR-1915	CLIP-seq
MIRT2310924	hsa-miR-199a-3p	CLIP-seq
MIRT2310925	hsa-miR-199b-3p	CLIP-seq
MIRT2085651	hsa-miR-214	CLIP-seq
MIRT2085653	hsa-miR-23a	CLIP-seq
MIRT2085654	hsa-miR-23b	CLIP-seq
MIRT2085655	hsa-miR-23c	CLIP-seq
MIRT1288883	hsa-miR-2467-3p	CLIP-seq
MIRT2085656	hsa-miR-3120-3p	CLIP-seq
MIRT2310926	hsa-miR-3129-5p	CLIP-seq
MIRT2310927	hsa-miR-3166	CLIP-seq
MIRT2310928	hsa-miR-3180	CLIP-seq
MIRT2310929	hsa-miR-3180-3p	CLIP-seq
MIRT2310930	hsa-miR-3196	CLIP-seq
MIRT2310931	hsa-miR-340	CLIP-seq
MIRT2310932	hsa-miR-3616-5p	CLIP-seq
MIRT2085662	hsa-miR-3619-5p	CLIP-seq
MIRT2310933	hsa-miR-3622a-3p	CLIP-seq
MIRT2310934	hsa-miR-3622b-3p	CLIP-seq
MIRT2310935	hsa-miR-3647-5p	CLIP-seq
MIRT2310936	hsa-miR-3665	CLIP-seq
MIRT2310937	hsa-miR-3675-5p	CLIP-seq
MIRT2310938	hsa-miR-3682-5p	CLIP-seq
MIRT2310939	hsa-miR-374a	CLIP-seq
MIRT2310940	hsa-miR-374b	CLIP-seq
MIRT2310941	hsa-miR-3935	CLIP-seq
MIRT2085666	hsa-miR-412	CLIP-seq
MIRT2310942	hsa-miR-4303	CLIP-seq
MIRT1288900	hsa-miR-4316	CLIP-seq
MIRT2310943	hsa-miR-4446-5p	CLIP-seq
MIRT2310944	hsa-miR-4452	CLIP-seq
MIRT2310945	hsa-miR-4476	CLIP-seq
MIRT1288906	hsa-miR-4506	CLIP-seq
MIRT2085672	hsa-miR-4639-3p	CLIP-seq
MIRT2310946	hsa-miR-4649-3p	CLIP-seq
MIRT2310947	hsa-miR-4651	CLIP-seq
MIRT2310948	hsa-miR-4655-3p	CLIP-seq
MIRT2310949	hsa-miR-4688	CLIP-seq
MIRT2085673	hsa-miR-4690-3p	CLIP-seq
MIRT2085674	hsa-miR-4704-3p	CLIP-seq
MIRT2310950	hsa-miR-4706	CLIP-seq
MIRT2310951	hsa-miR-4715-3p	CLIP-seq
MIRT1288914	hsa-miR-4722-5p	CLIP-seq
MIRT2310952	hsa-miR-4726-3p	CLIP-seq
MIRT1288916	hsa-miR-4747-5p	CLIP-seq
MIRT2310953	hsa-miR-4749-5p	CLIP-seq
MIRT2085675	hsa-miR-4755-3p	CLIP-seq
MIRT2310954	hsa-miR-4755-5p	CLIP-seq
MIRT1288918	hsa-miR-4768-3p	CLIP-seq
MIRT2310955	hsa-miR-4771	CLIP-seq
MIRT2310956	hsa-miR-4775	CLIP-seq
MIRT2310957	hsa-miR-4795-5p	CLIP-seq
MIRT2310958	hsa-miR-486-3p	CLIP-seq
MIRT1288920	hsa-miR-494	CLIP-seq
MIRT2310959	hsa-miR-500a	CLIP-seq
MIRT2310960	hsa-miR-548m	CLIP-seq
MIRT2310961	hsa-miR-573	CLIP-seq
MIRT2310962	hsa-miR-590-3p	CLIP-seq
MIRT2310963	hsa-miR-608	CLIP-seq
MIRT2310964	hsa-miR-615-5p	CLIP-seq
MIRT2310965	hsa-miR-642a	CLIP-seq
MIRT2085678	hsa-miR-668	CLIP-seq
MIRT1288929	hsa-miR-7	CLIP-seq
MIRT2310966	hsa-miR-744	CLIP-seq
MIRT2085680	hsa-miR-761	CLIP-seq
MIRT2310967	hsa-miR-935	CLIP-seq
MIRT2310968	hsa-miR-936	CLIP-seq
MIRT2085683	hsa-miR-938	CLIP-seq
MIRT2310969	hsa-miR-940	CLIP-seq
MIRT2085651	hsa-miR-214	CLIP-seq
MIRT2393442	hsa-miR-3164	CLIP-seq
MIRT1288887	hsa-miR-326	CLIP-seq
MIRT1288888	hsa-miR-330-5p	CLIP-seq
MIRT2085662	hsa-miR-3619-5p	CLIP-seq
MIRT2085680	hsa-miR-761	CLIP-seq
MIRT2607422	hsa-miR-1182	CLIP-seq
MIRT2310919	hsa-miR-1227	CLIP-seq
MIRT2607423	hsa-miR-1265	CLIP-seq
MIRT2607424	hsa-miR-1273e	CLIP-seq
MIRT2085649	hsa-miR-140-3p	CLIP-seq
MIRT2085651	hsa-miR-214	CLIP-seq
MIRT2085656	hsa-miR-3120-3p	CLIP-seq
MIRT2310928	hsa-miR-3180	CLIP-seq
MIRT2310929	hsa-miR-3180-3p	CLIP-seq
MIRT2310930	hsa-miR-3196	CLIP-seq
MIRT2085662	hsa-miR-3619-5p	CLIP-seq
MIRT2310933	hsa-miR-3622a-3p	CLIP-seq
MIRT2310934	hsa-miR-3622b-3p	CLIP-seq
MIRT2310936	hsa-miR-3665	CLIP-seq
MIRT2607425	hsa-miR-3670	CLIP-seq
MIRT2310937	hsa-miR-3675-5p	CLIP-seq
MIRT2607426	hsa-miR-3691-5p	CLIP-seq
MIRT2607427	hsa-miR-3692	CLIP-seq
MIRT2607428	hsa-miR-3915	CLIP-seq
MIRT2607429	hsa-miR-3928	CLIP-seq
MIRT2607430	hsa-miR-3929	CLIP-seq
MIRT2607431	hsa-miR-3974	CLIP-seq
MIRT2085668	hsa-miR-4317	CLIP-seq
MIRT2607432	hsa-miR-4419b	CLIP-seq
MIRT2085670	hsa-miR-4462	CLIP-seq
MIRT2310945	hsa-miR-4476	CLIP-seq
MIRT2607433	hsa-miR-4478	CLIP-seq
MIRT2310951	hsa-miR-4715-3p	CLIP-seq
MIRT2607434	hsa-miR-4752	CLIP-seq
MIRT2085675	hsa-miR-4755-3p	CLIP-seq
MIRT2607435	hsa-miR-4764-5p	CLIP-seq
MIRT2310956	hsa-miR-4775	CLIP-seq
MIRT2607436	hsa-miR-493	CLIP-seq
MIRT2607437	hsa-miR-544b	CLIP-seq
MIRT2607438	hsa-miR-556-5p	CLIP-seq
MIRT1288929	hsa-miR-7	CLIP-seq
MIRT2607439	hsa-miR-760	CLIP-seq
MIRT2085680	hsa-miR-761	CLIP-seq
MIRT2607440	hsa-miR-873	CLIP-seq
MIRT2310919	hsa-miR-1227	CLIP-seq
MIRT2607423	hsa-miR-1265	CLIP-seq
MIRT2085651	hsa-miR-214	CLIP-seq
MIRT2085656	hsa-miR-3120-3p	CLIP-seq
MIRT2310928	hsa-miR-3180	CLIP-seq
MIRT2310929	hsa-miR-3180-3p	CLIP-seq
MIRT2310930	hsa-miR-3196	CLIP-seq
MIRT2085662	hsa-miR-3619-5p	CLIP-seq
MIRT2310933	hsa-miR-3622a-3p	CLIP-seq
MIRT2310934	hsa-miR-3622b-3p	CLIP-seq
MIRT2310936	hsa-miR-3665	CLIP-seq
MIRT2310937	hsa-miR-3675-5p	CLIP-seq
MIRT2607427	hsa-miR-3692	CLIP-seq
MIRT2607428	hsa-miR-3915	CLIP-seq
MIRT2607429	hsa-miR-3928	CLIP-seq
MIRT2607431	hsa-miR-3974	CLIP-seq
MIRT2085668	hsa-miR-4317	CLIP-seq
MIRT2310945	hsa-miR-4476	CLIP-seq
MIRT2310951	hsa-miR-4715-3p	CLIP-seq
MIRT2607435	hsa-miR-4764-5p	CLIP-seq
MIRT2607436	hsa-miR-493	CLIP-seq
MIRT2607437	hsa-miR-544b	CLIP-seq
MIRT1288929	hsa-miR-7	CLIP-seq
MIRT2607439	hsa-miR-760	CLIP-seq
MIRT2085680	hsa-miR-761	CLIP-seq
MIRT2607440	hsa-miR-873	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16490346
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0032484	Process	Ral protein signal transduction	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0060178	Process	Regulation of exocyst localization	IEA
GO:0090630	Process	Activation of GTPase activity	ISS

Other IDs

• MIM: 618836
• HGNC: 16207
• e!Ensembl: ENSG00000188559

Protein

• UniProt ID: Q2PPJ7
• Protein name: Ral GTPase-activating protein subunit alpha-2 (250 kDa substrate of Akt) (AS250) (p220)
• Protein function: Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02145	Rap_GAP	1664 → 1840	Rap/ran-GAP	Family

• Sequence:

  MFSRRSHGDVKKSTQKVLDPKKDVLTRLKHLRALLDNVDANDLKQFFETNYSQIYFIFYE
  NFIALENSLKLKGNNKSQREELDSILFLFEKILQFLPERIFFRWHYQSIGSTLKKLLHTG
  NSIKIRCEGIRLFLLWLQALQTNCAEEQVLIFACLVPGFPAVMSSRGPCTLETLINPSPS
  VADVKIYPEEITPLLPAISGEKIAEDQTCFFLQILLKYMVIQAASLEWKNKENQDTGFKF
  LFTLFRKYYLPHLFPSFTKLTNIYKPVLDIPHLRPKPVYITTTRDNENIYSTKIPYMAAR
  VVFIKWIVTFFLEKKYLTATQNTKNGVDVLPKIIQTVGGGAVQERAPELDGGGPTEQDKS
  HSNSSTLSDRRLSNSSLCSIEEEHRMVYEMVQRILLSTRGYVNFVNEVFHQAFLLPSCEI
  AVTRKVVQVYRKWILQDKPVFMEEPDRKDVAQEDAEKLGFSETDSKEASSESSGHKRSSS
  WGRTYSFTSAMSRGCVTEEENTNVKAGVQALLQVFLTNSANIFLLEPCAEVPVLLKEQVD
  ACKAVLIIFRRMIMELTMNKKTWEQMLQILLRITEAVMQKPKDKQIKDLFAQSLAGLLFR
  TLMVAWIRANLCVYISRELWDDFLGVLSSLTEWEELINEWANIMDSLTAVLARTVYGVEM
  TNLPLDKLSEQKEKKQRGKGCVLDPQKGTTVGRSFSLSWRSHPDVTEPMRFRSATTSGAP
  GVEKARNIVRQKATEVEECQQSENAPAAGSGHLTVGQQQQVLRSSSTSDIPEPLCSDSSQ
  GQKAENTQNSSSSEPQPIQENKGHVKREHEGITILVRRSSSPAELDLKDDLQQTQGKCRE
  RQKSESTNSDTTLGCTNEAELSMGPWQTCEEDPELNTPTDVVADADARHWLQLSPTDASN
  LTDSSECLTDDCSIIAGGSLTGWHPDSAAVLWRRVLGILGDVNNIQSPKIHARVFCYLYE
  LWYKLAKIRDNLAISLDNQSSPSPPVLIPPLRMFASWLFKAATLPNEYKEGKLQAYRLIC
  AMMTRRQDVLPNSDFLVHFYLVMHLGLTSEDQDILNTIIRHCPPRFFSLGFPGFSMLVGD
  FITAAARVLSTDILTAPRSEAVTVLGSLVCFPNTYQEIPLLQSVPEVNEAITGTEDVKHY
  LINILLKNATEEPNEYARCIAVCSLGVWICEELAQCTSHPQVKEAINVIGVTLKFPNKIV
  AQVACDVLQLLVSYWEKLQMFETSLPRKMAEILVATVAFLLPSAEYSSVETDKKFIVSLL
  LCLLDWCMALPVSVLLHPVSTAVLEEQHSARAPLLDYIYRVLHCCVCGSSTYTQQSHYIL
  TLADLSSTDYDPFLPLANVKSSEPVQYHSSAELGNLLTVEEEKKRRSLELIPLTARMVMA
  HLVNHLGHYPLSGGPAILHSLVSENHDNAHVEGSELSFEVFRSPNLQLFVFNDSTLISYL
  QTPTEGPVGGSPVGSLSDVRVIVRDISGKYSWDGKVLYGPLEGCLAPNGRNPSFLISSWH
  RDTFGPQKDSSQVEEGDDVLDKLLENIGHTSPECLLPSQLNLNEPSLTPCGMNYDQEKEI
  IEVILRQNAQEDEYIQSHNFDSAMKVTSQGQPSPVEPRGPFYFCRLLLDDLGMNSWDRRK
  NFHLLKKNSKLLRELKNLDSRQCRETHKIAVFYIAEGQEDKCSILSNERGSQAYEDFVAG
  LGWEVDLSTHCGFMGGLQRNGSTGQTAPYYATSTVEVIFHVSTRMPSDSDDSLTKKLRHL
  GNDEVHIVWSEHSRDYRRGIIPTAFGDVSIIIYPMKNHMFFIAITKKPEVPFFGPLFDGA
  IVSGKLLPSLVCATCINASRAVKCLIPLYQSFYEERALYLEAIIQNHREVMTFEDFAAQV
  FSPSPSYSLSGTD

• Sequence length: 1873

Pathways

KEGG:

Ras signaling pathway

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22431556	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34767674	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22450745		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31058283		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	31058283		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22431556	Associate	★☆☆☆☆ Found in Text Mining only