UTRN (utrophin)

Gene

• Entrez ID: 7402
• Gene name: Utrophin
• Gene symbol: UTRN
• Synonyms (NCBI Gene): DMDL, DRP, DRP1
• Chromosome: 6
• Chromosome location: 6q24.2
• Summary: This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001788	hsa-miR-206	Reporter assay	17030984
MIRT023543	hsa-miR-1-3p	Proteomics	18668040
MIRT030742	hsa-miR-21-5p	Microarray	18591254
MIRT052224	hsa-let-7b-5p	CLASH	23622248
MIRT043263	hsa-miR-331-3p	CLASH	23622248
MIRT042097	hsa-miR-484	CLASH	23622248
MIRT040990	hsa-miR-505-3p	CLASH	23622248
MIRT037857	hsa-miR-455-3p	CLASH	23622248
MIRT528790	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT528789	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT528788	hsa-miR-1915-5p	PAR-CLIP	22012620
MIRT528787	hsa-miR-26a-1-3p	PAR-CLIP	22012620
MIRT528786	hsa-miR-26a-2-3p	PAR-CLIP	22012620
MIRT528785	hsa-miR-4313	PAR-CLIP	22012620
MIRT528783	hsa-miR-3136-3p	PAR-CLIP	22012620
MIRT528790	hsa-miR-4714-3p	PAR-CLIP	22012620
MIRT528789	hsa-miR-6793-3p	PAR-CLIP	22012620
MIRT528788	hsa-miR-1915-5p	PAR-CLIP	22012620
MIRT528787	hsa-miR-26a-1-3p	PAR-CLIP	22012620
MIRT528786	hsa-miR-26a-2-3p	PAR-CLIP	22012620
MIRT528785	hsa-miR-4313	PAR-CLIP	22012620
MIRT528783	hsa-miR-3136-3p	PAR-CLIP	22012620
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481339	hsa-miR-1256	CLIP-seq
MIRT1481340	hsa-miR-1272	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT1481343	hsa-miR-153	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481345	hsa-miR-21	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT1481349	hsa-miR-3137	CLIP-seq
MIRT1481350	hsa-miR-3185	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT1481353	hsa-miR-3647-3p	CLIP-seq
MIRT1481354	hsa-miR-3673	CLIP-seq
MIRT1481355	hsa-miR-380	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481359	hsa-miR-4446-3p	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT1481362	hsa-miR-4527	CLIP-seq
MIRT1481363	hsa-miR-4642	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481368	hsa-miR-4672	CLIP-seq
MIRT1481369	hsa-miR-4675	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT1481371	hsa-miR-4741	CLIP-seq
MIRT1481372	hsa-miR-4753-3p	CLIP-seq
MIRT1481373	hsa-miR-4768-5p	CLIP-seq
MIRT1481374	hsa-miR-553	CLIP-seq
MIRT1481375	hsa-miR-570	CLIP-seq
MIRT1481376	hsa-miR-590-5p	CLIP-seq
MIRT1481377	hsa-miR-628-5p	CLIP-seq
MIRT1481378	hsa-miR-890	CLIP-seq
MIRT1481379	hsa-miR-9	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2144828	hsa-miR-141	CLIP-seq
MIRT2144829	hsa-miR-200a	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT2144830	hsa-miR-598	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT2365148	hsa-miR-1277	CLIP-seq
MIRT2365149	hsa-miR-1283	CLIP-seq
MIRT2365150	hsa-miR-142-5p	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT2365155	hsa-miR-219-1-3p	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT2365157	hsa-miR-3198	CLIP-seq
MIRT2365158	hsa-miR-3671	CLIP-seq
MIRT2365159	hsa-miR-3677-3p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2365161	hsa-miR-3920	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2365163	hsa-miR-4309	CLIP-seq
MIRT2365164	hsa-miR-432	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT2365167	hsa-miR-4633-3p	CLIP-seq
MIRT2365168	hsa-miR-4640-5p	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT2365169	hsa-miR-4653-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2365170	hsa-miR-4726-5p	CLIP-seq
MIRT2365171	hsa-miR-4762-3p	CLIP-seq
MIRT2365172	hsa-miR-4762-5p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2365177	hsa-miR-5096	CLIP-seq
MIRT2365178	hsa-miR-548ag	CLIP-seq
MIRT2365179	hsa-miR-548ai	CLIP-seq
MIRT2365180	hsa-miR-548m	CLIP-seq
MIRT2365181	hsa-miR-633	CLIP-seq
MIRT1481378	hsa-miR-890	CLIP-seq
MIRT2365161	hsa-miR-3920	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT2365171	hsa-miR-4762-3p	CLIP-seq
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT2658923	hsa-miR-1973	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT2658924	hsa-miR-3161	CLIP-seq
MIRT2658925	hsa-miR-3163	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT2658926	hsa-miR-3179	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT2658927	hsa-miR-3613-3p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2658928	hsa-miR-3689d	CLIP-seq
MIRT2658929	hsa-miR-371b-5p	CLIP-seq
MIRT2658930	hsa-miR-3908	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT2658931	hsa-miR-3942-5p	CLIP-seq
MIRT2658932	hsa-miR-410	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2658933	hsa-miR-4263	CLIP-seq
MIRT2658934	hsa-miR-4275	CLIP-seq
MIRT2658935	hsa-miR-4305	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT2658936	hsa-miR-4503	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2658937	hsa-miR-4703-5p	CLIP-seq
MIRT2658938	hsa-miR-4766-3p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2365177	hsa-miR-5096	CLIP-seq
MIRT2658939	hsa-miR-543	CLIP-seq
MIRT2658940	hsa-miR-548ac	CLIP-seq
MIRT2658941	hsa-miR-548ae	CLIP-seq
MIRT2365178	hsa-miR-548ag	CLIP-seq
MIRT2365179	hsa-miR-548ai	CLIP-seq
MIRT2658942	hsa-miR-548aj	CLIP-seq
MIRT2658943	hsa-miR-548am	CLIP-seq
MIRT2658944	hsa-miR-548d-3p	CLIP-seq
MIRT2365180	hsa-miR-548m	CLIP-seq
MIRT2658945	hsa-miR-548x	CLIP-seq
MIRT2658946	hsa-miR-548z	CLIP-seq
MIRT2658947	hsa-miR-576-5p	CLIP-seq
MIRT2658948	hsa-miR-888	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq
MIRT1481329	hsa-let-7a	CLIP-seq
MIRT1481330	hsa-let-7b	CLIP-seq
MIRT1481331	hsa-let-7c	CLIP-seq
MIRT1481332	hsa-let-7d	CLIP-seq
MIRT1481333	hsa-let-7e	CLIP-seq
MIRT1481334	hsa-let-7f	CLIP-seq
MIRT1481335	hsa-let-7g	CLIP-seq
MIRT1481336	hsa-let-7i	CLIP-seq
MIRT2365145	hsa-miR-103a	CLIP-seq
MIRT2365146	hsa-miR-107	CLIP-seq
MIRT2365147	hsa-miR-1184	CLIP-seq
MIRT1481337	hsa-miR-1255a	CLIP-seq
MIRT1481338	hsa-miR-1255b	CLIP-seq
MIRT1481341	hsa-miR-135a	CLIP-seq
MIRT1481342	hsa-miR-135b	CLIP-seq
MIRT2365151	hsa-miR-15a	CLIP-seq
MIRT2365152	hsa-miR-15b	CLIP-seq
MIRT2365153	hsa-miR-16	CLIP-seq
MIRT2365154	hsa-miR-195	CLIP-seq
MIRT1481344	hsa-miR-202	CLIP-seq
MIRT1481346	hsa-miR-3119	CLIP-seq
MIRT1481347	hsa-miR-3124-3p	CLIP-seq
MIRT1481348	hsa-miR-3134	CLIP-seq
MIRT2365156	hsa-miR-3166	CLIP-seq
MIRT1481351	hsa-miR-3200-5p	CLIP-seq
MIRT1481352	hsa-miR-323-5p	CLIP-seq
MIRT2365160	hsa-miR-3678-3p	CLIP-seq
MIRT2658928	hsa-miR-3689d	CLIP-seq
MIRT2658930	hsa-miR-3908	CLIP-seq
MIRT1481356	hsa-miR-3927	CLIP-seq
MIRT2658931	hsa-miR-3942-5p	CLIP-seq
MIRT2365162	hsa-miR-424	CLIP-seq
MIRT2658933	hsa-miR-4263	CLIP-seq
MIRT2658935	hsa-miR-4305	CLIP-seq
MIRT2365165	hsa-miR-4418	CLIP-seq
MIRT1481357	hsa-miR-4422	CLIP-seq
MIRT1481358	hsa-miR-4426	CLIP-seq
MIRT1481360	hsa-miR-4458	CLIP-seq
MIRT2365166	hsa-miR-4494	CLIP-seq
MIRT1481361	hsa-miR-4500	CLIP-seq
MIRT2658936	hsa-miR-4503	CLIP-seq
MIRT1481364	hsa-miR-4647	CLIP-seq
MIRT1481365	hsa-miR-4649-3p	CLIP-seq
MIRT1481366	hsa-miR-4650-3p	CLIP-seq
MIRT1481367	hsa-miR-4662b	CLIP-seq
MIRT1481370	hsa-miR-4699-5p	CLIP-seq
MIRT2658937	hsa-miR-4703-5p	CLIP-seq
MIRT2658938	hsa-miR-4766-3p	CLIP-seq
MIRT2365173	hsa-miR-4771	CLIP-seq
MIRT2365174	hsa-miR-497	CLIP-seq
MIRT2365175	hsa-miR-509-3-5p	CLIP-seq
MIRT2365176	hsa-miR-509-5p	CLIP-seq
MIRT2658947	hsa-miR-576-5p	CLIP-seq
MIRT1481380	hsa-miR-98	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EN1	Repression	21672318
ERF	Repression	17507653
SP1	Activation	11237613
SP3	Activation	11237613

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IMP	19786618
GO:0003779	Function	Actin binding	IDA	16803572
GO:0003779	Function	Actin binding	IEA
GO:0005178	Function	Integrin binding	IPI	16803572
GO:0005515	Function	Protein binding	IPI	8576247, 10767429, 16777071, 18838687, 19786618, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	19786618
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	8977119
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8977119
GO:0005929	Component	Cilium	IDA
GO:0006936	Process	Muscle contraction	IEA
GO:0006936	Process	Muscle contraction	TAS	9288751
GO:0007517	Process	Muscle organ development	TAS	9288751
GO:0008270	Function	Zinc ion binding	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1426262
GO:0017166	Function	Vinculin binding	IEA
GO:0017166	Function	Vinculin binding	IPI	16803572
GO:0019901	Function	Protein kinase binding	IPI	16803572
GO:0030175	Component	Filopodium	IDA	16803572
GO:0031527	Component	Filopodium membrane	IDA	16803572
GO:0031527	Component	Filopodium membrane	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0032991	Component	Protein-containing complex	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042383	Component	Sarcolemma	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070938	Component	Contractile ring	IDA	16803572
GO:0099536	Process	Synaptic signaling	IBA
GO:1902305	Process	Regulation of sodium ion transmembrane transport	ISS	21677768

Other IDs

• MIM: 128240
• HGNC: 12635
• e!Ensembl: ENSG00000152818

Protein

• UniProt ID: P46939
• Protein name: Utrophin (Dystrophin-related protein 1) (DRP-1)
• Protein function: May play a role in anchoring the cytoskeleton to the plasma membrane.
• PDB: 1BHD, 1QAG, 6M5G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	31 → 136	Calponin homology (CH) domain	Domain
  PF00307	CH	150 → 256	Calponin homology (CH) domain	Domain
  PF00435	Spectrin	309 → 417	Spectrin repeat	Domain
  PF00435	Spectrin	418 → 526	Spectrin repeat	Domain
  PF00435	Spectrin	1016 → 1122	Spectrin repeat	Domain
  PF00435	Spectrin	1125 → 1230	Spectrin repeat	Domain
  PF00435	Spectrin	1544 → 1649	Spectrin repeat	Domain
  PF00435	Spectrin	1652 → 1753	Spectrin repeat	Domain
  PF00435	Spectrin	1976 → 2081	Spectrin repeat	Domain
  PF00435	Spectrin	2230 → 2333	Spectrin repeat	Domain
  PF00435	Spectrin	2444 → 2556	Spectrin repeat	Domain
  PF00435	Spectrin	2691 → 2797	Spectrin repeat	Domain
  PF00397	WW	2815 → 2843	WW domain	Domain
  PF09068	EF-hand_2	2846 → 2964	EF hand	Domain
  PF09069	EF-hand_3	2968 → 3059	EF-hand	Domain
  PF00569	ZZ	3064 → 3109	Zinc finger, ZZ type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 has high expression in muscle. Isoforms Up70 and Up140 were found in all the adult and fetal tissues tested and relatively abundant in lung and kidney. {ECO:0000269|PubMed:10369873}.
• Sequence:

  MAKYGEHEASPDNGQNEFSDIIKSRSDEHNDVQKKTFTKWINARFSKSGKPPINDMFTDL
  KDGRKLLDLLEGLTGTSLPKERGSTRVHALNNVNRVLQVLHQNNVELVNIGGTDIVDGNH
  KLTLGLLWSIILHWQVKDVMKDVMSDLQQTNSEKILLSWVRQTTRPYSQVNVLNFTTSWT
  DGLAFNAVLHRHKPDLFSWDKVVKMSPIERLEHAFSKAQTYLGIEKLLDPEDVAVQLPDK
  KSIIMYLTSLFEVLPQQVTIDAIREVETLPRKYKKECEEEAINIQSTAPEEEHESPRAET
  PSTVTEVDMDLDSYQIALEEVLTWLLSAEDTFQEQDDISDDVEEVKDQFATHEAFMMELT
  AHQSSVGSVLQAGNQLITQGTLSDEEEFEIQEQMTLLNARWEALRVESMDRQSRLHDVLM
  ELQKKQLQQLSAWLTLTEERIQKMETCPLDDDVKSLQKLLEEHKSLQSDLEAEQVKVNSL
  THMVVIVDENSGESATAILEDQLQKLGERWTAVCRWTEERWNRLQEINILWQELLEEQCL
  LKAWLTEKEEALNKVQTSNFKDQKELSVSVRRLAILKEDMEMKRQTLDQLSEIGQDVGQL
  LDNSKASKKINSDSEELTQRWDSLVQRLEDSSNQVTQAVAKLGMSQIPQKDLLETVRVRE
  QAITKKSKQELPPPPPPKKRQIHVDIEAKKKFDAISAELLNWILKWKTAIQTTEIKEYMK
  MQDTSEMKKKLKALEKEQRERIPRADELNQTGQILVEQMGKEGLPTEEIKNVLEKVSSEW
  KNVSQHLEDLERKIQLQEDINAYFKQLDELEKVIKTKEEWVKHTSISESSRQSLPSLKDS
  CQRELTNLLGLHPKIEMARASCSALMSQPSAPDFVQRGFDSFLGRYQAVQEAVEDRQQHL
  ENELKGQPGHAYLETLKTLKDVLNDSENKAQVSLNVLNDLAKVEKALQEKKTLDEILENQ
  KPALHKLAEETKALEKNVHPDVEKLYKQEFDDVQGKWNKLKVLVSKDLHLLEEIALTLRA
  FEADSTVIEKWMDGVKDFLMKQQAAQGDDAGLQRQLDQCSAFVNEIETIESSLKNMKEIE
  TNLRSGPVAGIKTWVQTRLGDYQTQLEKLSKEIATQKSRLSESQEKAANLKKDLAEMQEW
  MTQAEEEYLERDFEYKSPEELESAVEEMKRAKEDVLQKEVRVKILKDNIKLLAAKVPSGG
  QELTSELNVVLENYQLLCNRIRGKCHTLEEVWSCWIELLHYLDLETTWLNTLEERMKSTE
  VLPEKTDAVNEALESLESVLRHPADNRTQIRELGQTLIDGGILDDIISEKLEAFNSRYED
  LSHLAESKQISLEKQLQVLRETDQMLQVLQESLGELDKQLTTYLTDRIDAFQVPQEAQKI
  QAEISAHELTLEELRRNMRSQPLTSPESRTARGGSQMDVLQRKLREVSTKFQLFQKPANF
  EQRMLDCKRVLDGVKAELHVLDVKDVDPDVIQTHLDKCMKLYKTLSEVKLEVETVIKTGR
  HIVQKQQTDNPKGMDEQLTSLKVLYNDLGAQVTEGKQDLERASQLARKMKKEAASLSEWL
  SATETELVQKSTSEGLLGDLDTEISWAKNVLKDLEKRKADLNTITESSAALQNLIEGSEP
  ILEERLCVLNAGWSRVRTWTEDWCNTLMNHQNQLEIFDGNVAHISTWLYQAEALLDEIEK
  KPTSKQEEIVKRLVSELDDANLQVENVRDQALILMNARGSSSRELVEPKLAELNRNFEKV
  SQHIKSAKLLIAQEPLYQCLVTTETFETGVPFSDLEKLENDIENMLKFVEKHLESSDEDE
  KMDEESAQIEEVLQRGEEMLHQPMEDNKKEKIRLQLLLLHTRYNKIKAIPIQQRKMGQLA
  SGIRSSLLPTDYLVEINKILLCMDDVELSLNVPELNTAIYEDFSFQEDSLKNIKDQLDKL
  GEQIAVIHEKQPDVILEASGPEAIQIRDTLTQLNAKWDRINRMYSDRKGCFDRAMEEWRQ
  FHCDLNDLTQWITEAEELLVDTCAPGGSLDLEKARIHQQELEVGISSHQPSFAALNRTGD
  GIVQKLSQADGSFLKEKLAGLNQRWDAIVAEVKDRQPRLKGESKQVMKYRHQLDEIICWL
  TKAEHAMQKRSTTELGENLQELRDLTQEMEVHAEKLKWLNRTELEMLSDKSLSLPERDKI
  SESLRTVNMTWNKICREVPTTLKECIQEPSSVSQTRIAAHPNVQKVVLVSSASDIPVQSH
  RTSEISIPADLDKTITELADWLVLIDQMLKSNIVTVGDVEEINKTVSRMKITKADLEQRH
  PQLDYVFTLAQNLKNKASSSDMRTAITEKLERVKNQWDGTQHGVELRQQQLEDMIIDSLQ
  WDDHREETEELMRKYEARLYILQQARRDPLTKQISDNQILLQELGPGDGIVMAFDNVLQK
  LLEEYGSDDTRNVKETTEYLKTSWINLKQSIADRQNALEAEWRTVQASRRDLENFLKWIQ
  EAETTVNVLVDASHRENALQDSILARELKQQMQDIQAEIDAHNDIFKSIDGNRQKMVKAL
  GNSEEATMLQHRLDDMNQRWNDLKAKSASIRAHLEASAEKWNRLLMSLEELIKWLNMKDE
  ELKKQMPIGGDVPALQLQYDHCKALRRELKEKEYSVLNAVDQARVFLADQPIEAPEEPRR
  NLQSKTELTPEERAQKIAKAMRKQSSEVKEKWESLNAVTSNWQKQVDKALEKLRDLQGAM
  DDLDADMKEAESVRNGWKPVGDLLIDSLQDHIEKIMAFREEIAPINFKVKTVNDLSSQLS
  PLDLHPSLKMSRQLDDLNMRWKLLQVSVDDRLKQLQEAHRDFGPSSQHFLSTSVQLPWQR
  SISHNKVPYYINHQTQTTCWDHPKMTELFQSLADLNNVRFSAYRTAIKIRRLQKALCLDL
  LELSTTNEIFKQHKLNQNDQLLSVPDVINCLTTTYDGLEQMHKDLVNVPLCVDMCLNWLL
  NVYDTGRTGKIRVQSLKIGLMSLSKGLLEEKYRYLFKEVAGPTEMCDQRQLGLLLHDAIQ
  IPRQLGEVAAFGGSNIEPSVRSCFQQNNNKPEISVKEFIDWMHLEPQSMVWLPVLHRVAA
  AETAKHQAKCNICKECPIVGFRYRSLKHFNYDVCQSCFFSGRTAKGHKLHYPMVEYCIPT
  TSGEDVRDFTKVLKNKFRSKKYFAKHPRLGYLPVQTVLEGDNLETPITLISMWPEHYDPS
  QSPQLFHDDTHSRIEQYATRLAQMERTNGSFLTDSSSTTGSVEDEHALIQQYCQTLGGES
  PVSQPQSPAQILKSVEREERGELERIIADLEEEQRNLQVEYEQLKDQHLRRGLPVGSPPE
  SIISPHHTSEDSELIAEAKLLRQHKGRLEARMQILEDHNKQLESQLHRLRQLLEQPESDS
  RINGVSPWASPQHSALSYSLDPDASGPQFHQAAGEDLLAPPHDTSTDLTEVMEQIHSTFP
  SCCPNVPSRPQAM

• Sequence length: 3433

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
Duchenne muscular dystrophy	Likely pathogenic	rs766709360	RCV003989997	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ULCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROLIFERATIVE DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ 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
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyloidosis	Amyloidosis	BEFREE	27677309		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23713734, 29335339		★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	BEFREE	23163995		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	22529290	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27737949		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	20583184		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	20583184	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27737949		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23333625	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	8246010, 8533838, 8891069		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	24758576		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25434519, 25595902, 29072687, 30425235, 30809096		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24416132	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30981110	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31770286		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27509055	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27509055, 31409904, 31639424		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22749475, 28623080, 30604255, 30993599, 31039133		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28623750		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28607103		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30148677, 30447185		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28139514		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22487795		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30258050		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37816729	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	24905188, 26915633, 28384228, 28623080, 30567380, 30938090		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29223396		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29768513, 29924999		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32144130	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29768513, 29924999		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27448167	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33426802	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31849103		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	25853493, 31063459, 31349216		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	28939434		★☆☆☆☆ Found in Text Mining only
Duchenne and Becker Muscular Dystrophy	Duchenne And Becker Muscular Dystrophy	BEFREE	9364465		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29448246		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27509055		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	30171839		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	37047537	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	31361992		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	26247724		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24899388		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36922509	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24899388		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27495873		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35313071	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26577411	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	24905188, 26915633, 28384228, 28623080, 30567380, 30938090		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	29726929		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30290401		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36104324	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23641925, 29397067, 30449600, 30914652		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	39284371	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18805504, 28808422, 30444033, 30447185, 31115753		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29563985, 29981304, 31346611		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28190775		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	22511751, 28739174, 29431643, 30042687, 31336911		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28294974		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22367970, 28432138, 29464060		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	30363990	Associate	★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	29906559		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29435096		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27349577, 29890853		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	28063983		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	34983390	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27542250		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33853833	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29559929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24416132, 25434519, 25595902, 29072687, 30425235, 30809096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30981110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31770286		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31409904, 31639424		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25658205, 31674061		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29572068, 31838085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28965855, 30940726		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21527248, 27509055, 28108217, 29290987, 31127452		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22487795, 29329364		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16049973		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25174275, 30185782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	32562785	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	40191195	Associate	★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32918390	Associate	★☆☆☆☆ Found in Text Mining only
Migraine without Aura	Migraine	Pubtator	32918390	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22800932, 22955947, 23239023, 25390895, 29448246, 29726929, 30981110, 31062606, 35851620, 39284371	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	30312761		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	11382192, 12206790, 18986978, 24781208, 25504048, 27485975, 29078808, 31591596		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	12619170	Stimulate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	1951635, 21672318, 22028826, 26686765, 27069119, 34521928, 37060897, 7919618	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	10197815, 10365661, 10570192, 10652301, 10757882, 11098286, 11237613, 11551978, 11604045, 11726694, 11997063, 12206801, 12206803, 12235137, 12750741, 1461283, 15172107, 16443393, 16598790, 17712422, 18665159, 18973234, 19186250, 19744959, 2014247, 20170628, 20680835, 20952415, 21672318, 22028826, 23473647, 24087791, 24469912, 24781208, 25442501, 25504048, 25935002, 26076707, 26686765, 27988307, 28108217, 28252048, 28486179, 28623080, 28785010, 29045431, 29065908, 29078808, 29408646, 29723037, 29772070, 29879154, 30304405, 30312761, 30417024, 30689868, 30692507, 30914715, 30964048, 30990876, 31039133, 7881285, 8246010, 8281135, 8891069, 8934518, 9079621		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	LHGDN	12619170, 16295426, 16598790, 17507653		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	9313636		★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	11030414, 9443457		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29245958, 30425163		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	28131843		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16487708, 18706718, 24087791		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	12619170	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17384672, 20696777, 25595902, 25658205, 26356820, 27542250, 27889261, 28606997, 29360576, 30540939, 30862036		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30801875		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26518267, 28560384, 28591721		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36037157	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	23641925, 27830583, 28154157, 28379197, 28409390, 29290987, 31283035		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28981157		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31624314		★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	27491814, 28683400, 28890359, 29092894, 29395086, 29419407		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26577411	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16049973		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31409904, 31639424		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27509055	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25658205, 31674061		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	31412251		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	20164189, 21292769, 22398207, 27267045, 27619562, 28531191, 31308800, 31578315, 31626851		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34983390	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	10197815		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	27831567		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29572068, 31838085		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	30042687, 31336911		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26119034, 28294974		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31825802		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29704468		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	29209388		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	32918390	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	21672318		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	21672318	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31755636		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29336470		★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	Muscular dystrophy	BEFREE	8012192		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35359935	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	22955947, 25390895, 28079887, 28132899, 28330939, 30862036, 32245975, 35129048, 37962528	Associate	★☆☆☆☆ Found in Text Mining only
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	Spastic Ataxia	BEFREE	27288452, 28527629		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31127452	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	28818497		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28606997, 31127452		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	28479396, 28919853		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28965855, 30940726		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28210956, 28579326		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	25822260	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31138329		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	29559929		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37694778, 37975230	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	29924999		★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	8533838		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	22734004		★☆☆☆☆ Found in Text Mining only