ARAP2 (ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2)

Gene

• Entrez ID: 116984
• Gene name: ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2
• Gene symbol: ARAP2
• Synonyms (NCBI Gene): CENTD1, PARX
• Chromosome: 4
• Chromosome location: 4p14
• Summary: The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted ca

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027376	hsa-miR-101-3p	Sequencing	20371350
MIRT030346	hsa-miR-26b-5p	Microarray	19088304
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624680	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660562	hsa-miR-1305	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT669520	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660562	hsa-miR-1305	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624680	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT027376	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481681	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT027376	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481680	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT481679	hsa-miR-300	PAR-CLIP	23592263
MIRT481678	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT481677	hsa-miR-1255b-2-3p	PAR-CLIP	23592263
MIRT481676	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT481675	hsa-miR-767-3p	PAR-CLIP	23592263
MIRT481674	hsa-miR-5186	PAR-CLIP	23592263
MIRT481673	hsa-miR-6847-3p	PAR-CLIP	23592263
MIRT481672	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT481671	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT481670	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT481669	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT481668	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT481667	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT481666	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT481665	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT481664	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT481663	hsa-miR-3144-3p	PAR-CLIP	23592263
MIRT481662	hsa-miR-6828-3p	PAR-CLIP	23592263
MIRT481661	hsa-miR-6071	PAR-CLIP	23592263
MIRT481660	hsa-miR-544a	PAR-CLIP	23592263
MIRT481659	hsa-miR-6738-3p	PAR-CLIP	23592263
MIRT481658	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT441212	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT441213	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT441212	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT728322	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT728321	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT728320	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT728319	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT728318	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728317	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT441213	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624680	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660562	hsa-miR-1305	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT669520	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT660562	hsa-miR-1305	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT624684	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT624683	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT624681	hsa-miR-4699-3p	HITS-CLIP	23824327
MIRT624682	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT624679	hsa-miR-3682-5p	HITS-CLIP	23824327
MIRT624680	hsa-miR-6883-3p	HITS-CLIP	23824327
MIRT624678	hsa-miR-623	HITS-CLIP	23824327
MIRT624677	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT624676	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT624675	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT027376	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481681	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT027376	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT481680	hsa-miR-381-3p	PAR-CLIP	23592263
MIRT481679	hsa-miR-300	PAR-CLIP	23592263
MIRT481678	hsa-miR-338-5p	PAR-CLIP	23592263
MIRT481677	hsa-miR-1255b-2-3p	PAR-CLIP	23592263
MIRT481676	hsa-miR-4666a-3p	PAR-CLIP	23592263
MIRT481675	hsa-miR-767-3p	PAR-CLIP	23592263
MIRT481674	hsa-miR-5186	PAR-CLIP	23592263
MIRT481673	hsa-miR-6847-3p	PAR-CLIP	23592263
MIRT481672	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT481671	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT481670	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT481669	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT481668	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT481667	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT481666	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT481665	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT481664	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT481663	hsa-miR-3144-3p	PAR-CLIP	23592263
MIRT481662	hsa-miR-6828-3p	PAR-CLIP	23592263
MIRT481661	hsa-miR-6071	PAR-CLIP	23592263
MIRT481660	hsa-miR-544a	PAR-CLIP	23592263
MIRT481659	hsa-miR-6738-3p	PAR-CLIP	23592263
MIRT481658	hsa-miR-4703-5p	PAR-CLIP	23592263
MIRT791631	hsa-miR-106a	CLIP-seq
MIRT791632	hsa-miR-106b	CLIP-seq
MIRT791633	hsa-miR-1257	CLIP-seq
MIRT791634	hsa-miR-1267	CLIP-seq
MIRT791635	hsa-miR-130a	CLIP-seq
MIRT791636	hsa-miR-130b	CLIP-seq
MIRT791637	hsa-miR-141	CLIP-seq
MIRT791638	hsa-miR-17	CLIP-seq
MIRT791639	hsa-miR-181a	CLIP-seq
MIRT791640	hsa-miR-181b	CLIP-seq
MIRT791641	hsa-miR-181c	CLIP-seq
MIRT791642	hsa-miR-181d	CLIP-seq
MIRT791643	hsa-miR-186	CLIP-seq
MIRT791644	hsa-miR-19a	CLIP-seq
MIRT791645	hsa-miR-19b	CLIP-seq
MIRT791646	hsa-miR-200a	CLIP-seq
MIRT791647	hsa-miR-20a	CLIP-seq
MIRT791648	hsa-miR-20b	CLIP-seq
MIRT791649	hsa-miR-2861	CLIP-seq
MIRT791650	hsa-miR-301a	CLIP-seq
MIRT791651	hsa-miR-301b	CLIP-seq
MIRT791652	hsa-miR-30a	CLIP-seq
MIRT791653	hsa-miR-30b	CLIP-seq
MIRT791654	hsa-miR-30c	CLIP-seq
MIRT791655	hsa-miR-30d	CLIP-seq
MIRT791656	hsa-miR-30e	CLIP-seq
MIRT791657	hsa-miR-3133	CLIP-seq
MIRT791658	hsa-miR-3134	CLIP-seq
MIRT791659	hsa-miR-3136-5p	CLIP-seq
MIRT791660	hsa-miR-3148	CLIP-seq
MIRT791661	hsa-miR-3182	CLIP-seq
MIRT791662	hsa-miR-3607-3p	CLIP-seq
MIRT791663	hsa-miR-3654	CLIP-seq
MIRT791664	hsa-miR-3666	CLIP-seq
MIRT791665	hsa-miR-3686	CLIP-seq
MIRT791666	hsa-miR-3688-3p	CLIP-seq
MIRT791667	hsa-miR-3692	CLIP-seq
MIRT791668	hsa-miR-371-5p	CLIP-seq
MIRT791669	hsa-miR-371b-5p	CLIP-seq
MIRT791670	hsa-miR-378	CLIP-seq
MIRT791671	hsa-miR-378b	CLIP-seq
MIRT791672	hsa-miR-378c	CLIP-seq
MIRT791673	hsa-miR-378d	CLIP-seq
MIRT791674	hsa-miR-378e	CLIP-seq
MIRT791675	hsa-miR-378f	CLIP-seq
MIRT791676	hsa-miR-378h	CLIP-seq
MIRT791677	hsa-miR-378i	CLIP-seq
MIRT791678	hsa-miR-381	CLIP-seq
MIRT791679	hsa-miR-3927	CLIP-seq
MIRT791680	hsa-miR-3973	CLIP-seq
MIRT791681	hsa-miR-422a	CLIP-seq
MIRT791682	hsa-miR-4262	CLIP-seq
MIRT791683	hsa-miR-4268	CLIP-seq
MIRT791684	hsa-miR-4295	CLIP-seq
MIRT791685	hsa-miR-4436b-5p	CLIP-seq
MIRT791686	hsa-miR-4439	CLIP-seq
MIRT791687	hsa-miR-4448	CLIP-seq
MIRT791688	hsa-miR-4473	CLIP-seq
MIRT791689	hsa-miR-4513	CLIP-seq
MIRT791690	hsa-miR-4534	CLIP-seq
MIRT791691	hsa-miR-454	CLIP-seq
MIRT791692	hsa-miR-4650-3p	CLIP-seq
MIRT791693	hsa-miR-4704-3p	CLIP-seq
MIRT791694	hsa-miR-4738-3p	CLIP-seq
MIRT791695	hsa-miR-4777-5p	CLIP-seq
MIRT791696	hsa-miR-4795-3p	CLIP-seq
MIRT791697	hsa-miR-512-3p	CLIP-seq
MIRT791698	hsa-miR-513c	CLIP-seq
MIRT791699	hsa-miR-514b-5p	CLIP-seq
MIRT791700	hsa-miR-519a	CLIP-seq
MIRT791701	hsa-miR-519b-3p	CLIP-seq
MIRT791702	hsa-miR-519c-3p	CLIP-seq
MIRT791703	hsa-miR-519d	CLIP-seq
MIRT791704	hsa-miR-520f	CLIP-seq
MIRT791705	hsa-miR-520g	CLIP-seq
MIRT791706	hsa-miR-520h	CLIP-seq
MIRT791707	hsa-miR-548ag	CLIP-seq
MIRT791708	hsa-miR-548ai	CLIP-seq
MIRT791709	hsa-miR-549	CLIP-seq
MIRT791710	hsa-miR-600	CLIP-seq
MIRT791711	hsa-miR-606	CLIP-seq
MIRT791712	hsa-miR-618	CLIP-seq
MIRT791713	hsa-miR-624	CLIP-seq
MIRT791714	hsa-miR-93	CLIP-seq
MIRT1933584	hsa-miR-3942-3p	CLIP-seq
MIRT1933585	hsa-miR-4310	CLIP-seq
MIRT1933586	hsa-miR-4666-3p	CLIP-seq
MIRT1933587	hsa-miR-4729	CLIP-seq
MIRT1933588	hsa-miR-548ac	CLIP-seq
MIRT1933589	hsa-miR-548ae	CLIP-seq
MIRT1933590	hsa-miR-548aj	CLIP-seq
MIRT1933591	hsa-miR-548am	CLIP-seq
MIRT1933592	hsa-miR-548d-3p	CLIP-seq
MIRT1933593	hsa-miR-548x	CLIP-seq
MIRT1933594	hsa-miR-548z	CLIP-seq
MIRT1933595	hsa-miR-579	CLIP-seq
MIRT791635	hsa-miR-130a	CLIP-seq
MIRT791636	hsa-miR-130b	CLIP-seq
MIRT791650	hsa-miR-301a	CLIP-seq
MIRT791651	hsa-miR-301b	CLIP-seq
MIRT791664	hsa-miR-3666	CLIP-seq
MIRT791668	hsa-miR-371-5p	CLIP-seq
MIRT791684	hsa-miR-4295	CLIP-seq
MIRT791691	hsa-miR-454	CLIP-seq
MIRT791667	hsa-miR-3692	CLIP-seq
MIRT2443846	hsa-miR-4775	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:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IBA
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	11804589
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 606645
• HGNC: 16924
• e!Ensembl: ENSG00000047365

Protein

• UniProt ID: Q8WZ64
• Protein name: Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 (Centaurin-delta-1) (Cnt-d1) (Protein PARX)
• Protein function: Phosphatidylinositol 3,4,5-trisphosphate-dependent GTPase-activating protein that modulates actin cytoskeleton remodeling by regulating ARF and RHO family members. Is activated by phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) bindin
• PDB: 1X40, 2COD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00536	SAM_1	8 → 67	SAM domain (Sterile alpha motif)	Domain
  PF00169	PH	483 → 574	PH domain	Domain
  PF00169	PH	588 → 679	PH domain	Domain
  PF01412	ArfGap	685 → 803	Putative GTPase activating protein for Arf	Domain
  PF00169	PH	879 → 1001	PH domain	Domain
  PF00620	RhoGAP	1129 → 1282	RhoGAP domain	Domain
  PF00788	RA	1326 → 1418	Ras association (RalGDS/AF-6) domain	Domain
  PF00169	PH	1435 → 1537	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in brain, thymus, lymph node, thyroid, spinal cord, trachea, heart, skeletal muscle, spleen, kidney, liver, placenta, lung and peripheral blood leukocytes. {ECO:0000269|PubMed:11804590}.
• Sequence:

  MSSVSEVNVDIKDFLMSINLEQYLLHFHESGFTTVKDCAAINDSLLQKIGISPTGHRRRI
  LKQLQIILSKMQDIPIYANVHKTKKNDDPSKDYHVPSSDQNICIELSNSGSVQTSSPPQL
  ETVRKNLEDSDASVERSQYPQSDDKLSPPKRDFPTAEEPHLNLGSLNDSLFGSDNIKIES
  LITKKTVDHTVEEQQTEKVKLITENLSKLPNADSECLSFVGCSTSGTNSGNGTNGLLEGS
  PPSPFFKFQGEMIVNDLYVPSSPILAPVRSRSKLVSRPSRSFLLRHRPVPEIPGSTKGVS
  GSYFRERRNVATSTEKSVAWQNSNEENSSSIFPYGETFLFQRLENSKKRSIKNEFLTQGE
  ALKGEAATATNSFIIKSSIYDNRKEKISEDKVEDIWIPREDKNNFLIDTASESEYSTVEE
  CFQSLRRKNSKASKSRTQKALILDSVNRHSYPLSSTSGNADSSAVSSQAISPYACFYGAS
  AKKVKSGWLDKLSPQGKRMFQKRWVKFDGLSISYYNNEKEMYSKGIIPLSAISTVRVQGD
  NKFEVVTTQRTFVFRVEKEEERNDWISILLNALKSQSLTSQSQAVVTPEKCGYLELRGYK
  AKIFTVLSGNSVWLCKNEQDFKSGLGITIIPMNVANVKQVDRTVKQSFEIITPYRSFSFT
  AETEKEKQDWIEAVQQSIAETLSDYEVAEKIWFNESNRSCADCKAPDPDWASINLCVVIC
  KKCAGQHRSLGPKDSKVRSLKMDASIWSNELIELFIVIGNKRANDFWAGNLQKDEELHMD
  SPVEKRKNFITQKYKEGKFRKTLLASLTKEELNKALCAAVVKPDVLETMALLFSGADVMC
  ATGDPVHSTPYLLAKKAGQSLQMEFLYHNKFSDFPQHDIHSEGVLSQESSQSTFLCDFLY
  QAPSAASKLSSEKKLLEETNKKWCVLEGGFLSYYENDKSTTPNGTININEVICLAIHKED
  FYLNTGPIFIFEIYLPSERVFLFGAETSQAQRKWTEAIAKHFVPLFAENLTEADYDLIGQ
  LFYKDCHALDQWRKGWFAMDKSSLHFCLQMQEVQGDRMHLRRLQELTISTMVQNGEKLDV
  LLLVEKGRTLYIHGHTKLDFTVWHTAIEKAAGTDGNALQDQQLSKNDVPIIVNSCIAFVT
  QYGLGCKYIYQKNGDPLHISELLESFKKDARSFKLRAGKHQLEDVTAVLKSFLSDIDDAL
  LTKELYPYWISALDTQDDKERIKKYGAFIRSLPGVNRATLAAIIEHLYRVQKCSEINHMN
  AHNLALVFSSCLFQTKGQTSEEVNVIEDLINNYVEIFEVKEDQVKQMDIENSFITKWKDT
  QVSQAGDLLIEVYVERKEPDCSIIIRISPVMEAEELTNDILAIKNIIPTKGDIWATFEVI
  ENEELERPLHYKENVLEQVLRWSSLAEPGSAYLVVKRFLTADTIKHCSDRSTLGSIKEGI
  LKIKEEPSKILSGNKFQDRYFVLRDGFLFLYKDVKSSKHDKMFSLSSMKFYRGVKKKMKP
  PTSWGLTAYSEKHHWHLCCDSSRTQTEWMTSIFIAQHEYDIWPPAGKERKRSITKNPKIG
  GLPLIPIQHEGNATLARKNIESARAELERLRLSEKCDKESVDSSLKERASMVAHCLEHKD
  DKLRNRPRKHRSFNCLEDTEPEAPLGQPKGHKGLKTLRKTEDRNSKATLDSDHKLPSRVI
  EELNVVLQRSRTLPKELQDEQILK

• Sequence length: 1704

Pathways

KEGG:

Endocytosis

Reactome:

Rho GTPase cycle

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
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	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
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	29274321		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	GWASCAT_DG	22959728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32734521	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35842667	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26567590		★☆☆☆☆ Found in Text Mining only