DCC (DCC netrin 1 receptor)

Gene

• Entrez ID: 1630
• Gene name: DCC netrin 1 receptor
• Gene symbol: DCC
• Synonyms (NCBI Gene): CRC18, CRCR1, HGPPS2, IGDCC1, MRMV1, NTN1R1
• Chromosome: 18
• Chromosome location: 18q21.2
• Summary: This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912967	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs199651452	A>T	Pathogenic	Missense variant, coding sequence variant
rs387906555	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs748112308	G>A	Pathogenic	Coding sequence variant, missense variant
rs754914260	C>A,T	Pathogenic	Stop gained, synonymous variant, genic upstream transcript variant, coding sequence variant
rs775565634	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044551	C>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs797044552	->G	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs797044553	G>A	Pathogenic	Splice donor variant
rs797044554	->AGCC	Pathogenic	Frameshift variant, coding sequence variant
rs797044555	->GGAAG	Pathogenic	Frameshift variant, coding sequence variant
rs797044556	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057519053	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1057519054	T>G	Pathogenic	Missense variant, coding sequence variant
rs1057519055	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519056	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs1057519057	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519058	A>G	Pathogenic	Missense variant, coding sequence variant
rs1085307773	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555682265	TTTCTGG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555732204	G>C	Pathogenic	Splice donor variant
rs1568364038	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022668	hsa-miR-124-3p	Microarray	18668037
MIRT721068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT721067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT721066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT721065	hsa-miR-105-5p	HITS-CLIP	19536157
MIRT721064	hsa-miR-7853-5p	HITS-CLIP	19536157
MIRT721063	hsa-miR-4719	HITS-CLIP	19536157
MIRT721062	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT721061	hsa-miR-3158-5p	HITS-CLIP	19536157
MIRT721060	hsa-miR-1184	HITS-CLIP	19536157
MIRT721059	hsa-miR-1205	HITS-CLIP	19536157
MIRT721058	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT721057	hsa-miR-298	HITS-CLIP	19536157
MIRT721056	hsa-miR-2467-3p	HITS-CLIP	19536157
MIRT721055	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT721053	hsa-miR-3678-3p	HITS-CLIP	19536157
MIRT721054	hsa-miR-544a	HITS-CLIP	19536157
MIRT721052	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT512580	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT512579	hsa-miR-5092	PAR-CLIP	22012620
MIRT512578	hsa-miR-6500-3p	PAR-CLIP	22012620
MIRT512577	hsa-miR-4696	PAR-CLIP	22012620
MIRT512576	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT512575	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT512574	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT512580	hsa-miR-1255b-2-3p	PAR-CLIP	23446348
MIRT512579	hsa-miR-5092	PAR-CLIP	23446348
MIRT512578	hsa-miR-6500-3p	PAR-CLIP	23446348
MIRT512577	hsa-miR-4696	PAR-CLIP	23446348
MIRT512576	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT512575	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT512574	hsa-miR-889-3p	PAR-CLIP	23446348
MIRT721068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT721067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT721066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT721065	hsa-miR-105-5p	HITS-CLIP	19536157
MIRT721064	hsa-miR-7853-5p	HITS-CLIP	19536157
MIRT721063	hsa-miR-4719	HITS-CLIP	19536157
MIRT721062	hsa-miR-6847-5p	HITS-CLIP	19536157
MIRT721061	hsa-miR-3158-5p	HITS-CLIP	19536157
MIRT721060	hsa-miR-1184	HITS-CLIP	19536157
MIRT721059	hsa-miR-1205	HITS-CLIP	19536157
MIRT721058	hsa-miR-17-3p	HITS-CLIP	19536157
MIRT721057	hsa-miR-298	HITS-CLIP	19536157
MIRT721056	hsa-miR-2467-3p	HITS-CLIP	19536157
MIRT721055	hsa-miR-513b-5p	HITS-CLIP	19536157
MIRT721053	hsa-miR-3678-3p	HITS-CLIP	19536157
MIRT721054	hsa-miR-544a	HITS-CLIP	19536157
MIRT721052	hsa-miR-6738-3p	HITS-CLIP	19536157
MIRT512580	hsa-miR-1255b-2-3p	PAR-CLIP	22012620
MIRT512579	hsa-miR-5092	PAR-CLIP	22012620
MIRT512578	hsa-miR-6500-3p	PAR-CLIP	22012620
MIRT512577	hsa-miR-4696	PAR-CLIP	22012620
MIRT512576	hsa-miR-19a-3p	PAR-CLIP	22012620
MIRT512575	hsa-miR-19b-3p	PAR-CLIP	22012620
MIRT512574	hsa-miR-889-3p	PAR-CLIP	22012620
MIRT512580	hsa-miR-1255b-2-3p	PAR-CLIP	23446348
MIRT512579	hsa-miR-5092	PAR-CLIP	23446348
MIRT512578	hsa-miR-6500-3p	PAR-CLIP	23446348
MIRT512577	hsa-miR-4696	PAR-CLIP	23446348
MIRT512576	hsa-miR-19a-3p	PAR-CLIP	23446348
MIRT512575	hsa-miR-19b-3p	PAR-CLIP	23446348
MIRT512574	hsa-miR-889-3p	PAR-CLIP	23446348
MIRT925804	hsa-miR-1207-3p	CLIP-seq
MIRT737651	hsa-miR-128	CLIP-seq
MIRT925805	hsa-miR-142-3p	CLIP-seq
MIRT737649	hsa-miR-183	CLIP-seq
MIRT737652	hsa-miR-27a	CLIP-seq
MIRT737653	hsa-miR-27b	CLIP-seq
MIRT925806	hsa-miR-28-5p	CLIP-seq
MIRT925807	hsa-miR-3123	CLIP-seq
MIRT925808	hsa-miR-3139	CLIP-seq
MIRT925809	hsa-miR-3179	CLIP-seq
MIRT925810	hsa-miR-3194-3p	CLIP-seq
MIRT925811	hsa-miR-33a	CLIP-seq
MIRT925812	hsa-miR-33b	CLIP-seq
MIRT925813	hsa-miR-342-5p	CLIP-seq
MIRT925814	hsa-miR-345	CLIP-seq
MIRT925815	hsa-miR-346	CLIP-seq
MIRT925816	hsa-miR-3660	CLIP-seq
MIRT925817	hsa-miR-3662	CLIP-seq
MIRT925818	hsa-miR-3663-3p	CLIP-seq
MIRT925819	hsa-miR-3919	CLIP-seq
MIRT925820	hsa-miR-3934	CLIP-seq
MIRT925821	hsa-miR-3936	CLIP-seq
MIRT925822	hsa-miR-3940-5p	CLIP-seq
MIRT925823	hsa-miR-421	CLIP-seq
MIRT925824	hsa-miR-4280	CLIP-seq
MIRT737650	hsa-miR-4302	CLIP-seq
MIRT925825	hsa-miR-4325	CLIP-seq
MIRT925826	hsa-miR-4432	CLIP-seq
MIRT925827	hsa-miR-4436b-3p	CLIP-seq
MIRT925828	hsa-miR-4447	CLIP-seq
MIRT925829	hsa-miR-4472	CLIP-seq
MIRT925830	hsa-miR-4488	CLIP-seq
MIRT925831	hsa-miR-4507	CLIP-seq
MIRT925832	hsa-miR-450b-5p	CLIP-seq
MIRT925833	hsa-miR-4517	CLIP-seq
MIRT925834	hsa-miR-4522	CLIP-seq
MIRT925835	hsa-miR-4526	CLIP-seq
MIRT737654	hsa-miR-4536	CLIP-seq
MIRT925836	hsa-miR-4633-3p	CLIP-seq
MIRT925837	hsa-miR-4651	CLIP-seq
MIRT925838	hsa-miR-4664-5p	CLIP-seq
MIRT925839	hsa-miR-4697-5p	CLIP-seq
MIRT925840	hsa-miR-4709-5p	CLIP-seq
MIRT925841	hsa-miR-4714-3p	CLIP-seq
MIRT925842	hsa-miR-4714-5p	CLIP-seq
MIRT925843	hsa-miR-4725-5p	CLIP-seq
MIRT925844	hsa-miR-4727-5p	CLIP-seq
MIRT925845	hsa-miR-4738-3p	CLIP-seq
MIRT925846	hsa-miR-4769-3p	CLIP-seq
MIRT925847	hsa-miR-4778-3p	CLIP-seq
MIRT925848	hsa-miR-499-5p	CLIP-seq
MIRT925849	hsa-miR-500a	CLIP-seq
MIRT925850	hsa-miR-504	CLIP-seq
MIRT925851	hsa-miR-5095	CLIP-seq
MIRT925852	hsa-miR-552	CLIP-seq
MIRT925853	hsa-miR-608	CLIP-seq
MIRT925854	hsa-miR-629	CLIP-seq
MIRT925855	hsa-miR-642b	CLIP-seq
MIRT925856	hsa-miR-708	CLIP-seq
MIRT925857	hsa-miR-888	CLIP-seq
MIRT925858	hsa-miR-891b	CLIP-seq
MIRT925815	hsa-miR-346	CLIP-seq
MIRT925844	hsa-miR-4727-5p	CLIP-seq
MIRT925846	hsa-miR-4769-3p	CLIP-seq
MIRT925858	hsa-miR-891b	CLIP-seq
MIRT925815	hsa-miR-346	CLIP-seq
MIRT925844	hsa-miR-4727-5p	CLIP-seq
MIRT925846	hsa-miR-4769-3p	CLIP-seq
MIRT925858	hsa-miR-891b	CLIP-seq
MIRT737651	hsa-miR-128	CLIP-seq
MIRT737649	hsa-miR-183	CLIP-seq
MIRT737652	hsa-miR-27a	CLIP-seq
MIRT737653	hsa-miR-27b	CLIP-seq
MIRT737650	hsa-miR-4302	CLIP-seq
MIRT737654	hsa-miR-4536	CLIP-seq
MIRT1974331	hsa-miR-1226	CLIP-seq
MIRT1974332	hsa-miR-224	CLIP-seq
MIRT925815	hsa-miR-346	CLIP-seq
MIRT1974333	hsa-miR-3647-3p	CLIP-seq
MIRT925819	hsa-miR-3919	CLIP-seq
MIRT925833	hsa-miR-4517	CLIP-seq
MIRT1974334	hsa-miR-4659a-3p	CLIP-seq
MIRT1974335	hsa-miR-4659b-3p	CLIP-seq
MIRT925844	hsa-miR-4727-5p	CLIP-seq
MIRT1974336	hsa-miR-4733-3p	CLIP-seq
MIRT1974337	hsa-miR-4760-3p	CLIP-seq
MIRT1974338	hsa-miR-4766-5p	CLIP-seq
MIRT925846	hsa-miR-4769-3p	CLIP-seq
MIRT925847	hsa-miR-4778-3p	CLIP-seq
MIRT1974339	hsa-miR-489	CLIP-seq
MIRT1974340	hsa-miR-539	CLIP-seq
MIRT925858	hsa-miR-891b	CLIP-seq
MIRT737649	hsa-miR-183	CLIP-seq
MIRT2209748	hsa-miR-2115	CLIP-seq
MIRT2209749	hsa-miR-2278	CLIP-seq
MIRT925814	hsa-miR-345	CLIP-seq
MIRT2209750	hsa-miR-3679-3p	CLIP-seq
MIRT925823	hsa-miR-421	CLIP-seq
MIRT737650	hsa-miR-4302	CLIP-seq
MIRT2209751	hsa-miR-4418	CLIP-seq
MIRT2209752	hsa-miR-4504	CLIP-seq
MIRT925834	hsa-miR-4522	CLIP-seq
MIRT2209753	hsa-miR-4528	CLIP-seq
MIRT2209754	hsa-miR-4641	CLIP-seq
MIRT925840	hsa-miR-4709-5p	CLIP-seq
MIRT925842	hsa-miR-4714-5p	CLIP-seq
MIRT2209755	hsa-miR-4732-3p	CLIP-seq
MIRT2209756	hsa-miR-4749-3p	CLIP-seq
MIRT2209757	hsa-miR-4777-5p	CLIP-seq
MIRT2209758	hsa-miR-498	CLIP-seq
MIRT2209759	hsa-miR-505	CLIP-seq
MIRT2209760	hsa-miR-509-3-5p	CLIP-seq
MIRT2209761	hsa-miR-509-5p	CLIP-seq
MIRT2209762	hsa-miR-516a-3p	CLIP-seq
MIRT2209763	hsa-miR-518d-5p	CLIP-seq
MIRT2209764	hsa-miR-519b-5p	CLIP-seq
MIRT2209765	hsa-miR-519c-5p	CLIP-seq
MIRT2209766	hsa-miR-520c-5p	CLIP-seq
MIRT2209767	hsa-miR-526a	CLIP-seq
MIRT925815	hsa-miR-346	CLIP-seq
MIRT925844	hsa-miR-4727-5p	CLIP-seq
MIRT925846	hsa-miR-4769-3p	CLIP-seq
MIRT737651	hsa-miR-128	CLIP-seq
MIRT737649	hsa-miR-183	CLIP-seq
MIRT737652	hsa-miR-27a	CLIP-seq
MIRT737653	hsa-miR-27b	CLIP-seq
MIRT737650	hsa-miR-4302	CLIP-seq
MIRT737654	hsa-miR-4536	CLIP-seq
MIRT2513555	hsa-miR-1298	CLIP-seq
MIRT2513556	hsa-miR-493	CLIP-seq
MIRT2513555	hsa-miR-1298	CLIP-seq
MIRT2513556	hsa-miR-493	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX9	Activation	19745029

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	8861902
GO:0005515	Function	Protein binding	IPI	11527412, 12011067, 16537496, 18585357, 19721007, 20434207, 21642953, 22084112, 26190107
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9796814
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	TAS	8861902
GO:0007411	Process	Axon guidance	IBA
GO:0009986	Component	Cell surface	IBA
GO:0010977	Process	Negative regulation of neuron projection development	TAS	19616629
GO:0016020	Component	Membrane	IEA
GO:0021965	Process	Spinal cord ventral commissure morphogenesis	IEA
GO:0030424	Component	Axon	IEA
GO:0033563	Process	Dorsal/ventral axon guidance	IEA
GO:0033564	Process	Anterior/posterior axon guidance	IEA
GO:0048671	Process	Negative regulation of collateral sprouting	TAS	19616629
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:2000171	Process	Negative regulation of dendrite development	TAS	19616629

Other IDs

• MIM: 120470
• HGNC: 2701
• e!Ensembl: ENSG00000187323

Protein

• UniProt ID: P43146
• Protein name: Netrin receptor DCC (Colorectal cancer suppressor) (Immunoglobulin superfamily DCC subclass member 1) (Tumor suppressor protein DCC)
• Protein function: Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as
• PDB: 2ED7, 2ED8, 2ED9, 2EDB, 2EDD, 2EDE, 3AU4, 4URT, 5X83
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	140 → 230	Immunoglobulin I-set domain	Domain
  PF07679	I-set	240 → 327	Immunoglobulin I-set domain	Domain
  PF07679	I-set	331 → 417	Immunoglobulin I-set domain	Domain
  PF00041	fn3	430 → 514	Fibronectin type III domain	Domain
  PF00041	fn3	529 → 610	Fibronectin type III domain	Domain
  PF00041	fn3	624 → 708	Fibronectin type III domain	Domain
  PF00041	fn3	727 → 807	Fibronectin type III domain	Domain
  PF00041	fn3	845 → 932	Fibronectin type III domain	Domain
  PF00041	fn3	946 → 1034	Fibronectin type III domain	Domain
  PF06583	Neogenin_C	1148 → 1445	Neogenin C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Found in axons of the central and peripheral nervous system and in differentiated cell types of the intestine. Not expressed in colorectal tumor cells that lost their capacity to differentiate into mucus producing cells. {ECO:0000269|P
• Sequence:

  MENSLRCVWVPKLAFVLFGASLFSAHLQVTGFQIKAFTALRFLSEPSDAVTMRGGNVLLD
  CSAESDRGVPVIKWKKDGIHLALGMDERKQQLSNGSLLIQNILHSRHHKPDEGLYQCEAS
  LGDSGSIISRTAKVAVAGPLRFLSQTESVTAFMGDTVLLKCEVIGEPMPTIHWQKNQQDL
  TPIPGDSRVVVLPSGALQISRLQPGDIGIYRCSARNPASSRTGNEAEVRILSDPGLHRQL
  YFLQRPSNVVAIEGKDAVLECCVSGYPPPSFTWLRGEEVIQLRSKKYSLLGGSNLLISNV
  TDDDSGMYTCVVTYKNENISASAELTVLVPPWFLNHPSNLYAYESMDIEFECTVSGKPVP
  TVNWMKNGDVVIPSDYFQIVGGSNLRILGVVKSDEGFYQCVAENEAGNAQTSAQLIVPKP
  AIPSSSVLPSAPRDVVPVLVSSRFVRLSWRPPAEAKGNIQTFTVFFSREGDNRERALNTT
  QPGSLQLTVGNLKPEAMYTFRVVAYNEWGPGESSQPIKVATQPELQVPGPVENLQAVSTS
  PTSILITWEPPAYANGPVQGYRLFCTEVSTGKEQNIEVDGLSYKLEGLKKFTEYSLRFLA
  YNRYGPGVSTDDITVVTLSDVPSAPPQNVSLEVVNSRSIKVSWLPPPSGTQNGFITGYKI
  RHRKTTRRGEMETLEPNNLWYLFTGLEKGSQYSFQVSAMTVNGTGPPSNWYTAETPENDL
  DESQVPDQPSSLHVRPQTNCIIMSWTPPLNPNIVVRGYIIGYGVGSPYAETVRVDSKQRY
  YSIERLESSSHYVISLKAFNNAGEGVPLYESATTRSITDPTDPVDYYPLLDDFPTSVPDL
  STPMLPPVGVQAVALTHDAVRVSWADNSVPKNQKTSEVRLYTVRWRTSFSASAKYKSEDT
  TSLSYTATGLKPNTMYEFSVMVTKNRRSSTWSMTAHATTYEAAPTSAPKDLTVITREGKP
  RAVIVSWQPPLEANGKITAYILFYTLDKNIPIDDWIMETISGDRLTHQIMDLNLDTMYYF
  RIQARNSKGVGPLSDPILFRTLKVEHPDKMANDQGRHGDGGYWPVDTNLIDRSTLNEPPI
  GQMHPPHGSVTPQKNSNLLVIIVVTVGVITVLVVVIVAVICTRRSSAQQRKKRATHSAGK
  RKGSQKDLRPPDLWIHHEEMEMKNIEKPSGTDPAGRDSPIQSCQDLTPVSHSQSETQLGS
  KSTSHSGQDTEEAGSSMSTLERSLAARRAPRAKLMIPMDAQSNNPAVVSAIPVPTLESAQ
  YPGILPSPTCGYPHPQFTLRPVPFPTLSVDRGFGAGRSQSVSEGPTTQQPPMLPPSQPEH
  SSSEEAPSRTIPTACVRPTHPLRSFANPLLPPPMSAIEPKVPYTPLLSQPGPTLPKTHVK
  TASLGLAGKARSPLLPVSVPTAPEVSEESHKPTEDSANVYEQDDLSEQMASLEGLMKQLN
  AITGSAF

• Sequence length: 1447

Pathways

KEGG:

Axon guidance
Pathways in cancer
Colorectal cancer

Reactome:

Netrin-1 signaling
DCC mediated attractive signaling
Caspase activation via Dependence Receptors in the absence of ligand

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
Autism spectrum disorder	Likely pathogenic	rs2511454945	RCV003127317	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma of colon	Pathogenic	rs387906555	RCV000018603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs2040184914	RCV001293822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Corpus callosum, agenesis of	Pathogenic	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057	RCV000416354 RCV000416317 RCV000416340 RCV000416336 RCV000416322 RCV000416342	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DCC-related disorder	Likely pathogenic	rs2511378972, rs1406742141, rs2511800370	RCV003405764 RCV003406080 RCV003400235	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal carcinoma, somatic	Pathogenic	rs121912967	RCV000018604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gaze palsy, familial horizontal, with progressive scoliosis, 2	Pathogenic	rs1555682265	RCV000494700	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mirror movements 1	Likely pathogenic; Pathogenic	rs1909920586, rs2145024323, rs764481922, rs2511410848, rs797044552, rs754914260, rs797044553, rs797044556, rs2511644864, rs141228869, rs2511644683, rs2511456928, rs2511451201, rs2511369243, rs1057519053, rs1057519054, rs1057519055, rs1555682265	RCV001645010 RCV001731260 RCV002221421 RCV002291478 RCV000192078 RCV000192079 RCV000192080 RCV000192083 RCV002810046 RCV002790024 RCV003127318 RCV003323274 RCV003387576 RCV003517511 RCV000494695 RCV000494699 RCV000494701 RCV005860096	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mirror movements 1 and/or agenesis of the corpus callosum	Pathogenic	rs2511800544	RCV003226141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Partial agenesis of the corpus callosum	Likely pathogenic	rs2144215711	RCV001391260	★★★★☆ 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
Amenorrhea	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CANCER	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CONGENITAL MIRROR MOVEMENTS	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIRROR MOVEMENT DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPOTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTIAL AGENESIS OF CORPUS CALLOSUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	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
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	7696919, 8338956		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10667431, 1423299, 14647445, 18677542, 8414507, 8440743, 9014856, 9326914		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	12901278		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	1314700, 24679424		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of rectum	Adenocarcinoma Of Rectum	BEFREE	19304403		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12432238, 12770737, 16699851, 8414507, 9440618		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12432238		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	12893078		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	1319833, 15333653, 16474178, 16607677, 16932072, 26970738, 7970729, 8632608, 9326914		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	25569436		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28250454, 29366874, 31697046		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CTD_human_DG	28250454		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	28250454	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	CLINVAR_DG	28250456		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anal carcinoma	Anal Cancer	BEFREE	11598481		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	10066096		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	Pubtator	37487843	Associate	★☆☆☆☆ Found in Text Mining only
Anterior hypopituitarism	Hypopituitarism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	39681175	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	36889039	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	11684721	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28501100		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	36889039	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	38287090	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	Pubtator	38287090	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	14571268		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10667431		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of esophagus	Benign neoplasm of esophagus	CGI_DG			★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	10719364, 12168833		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	8632608		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	7967738		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	8570191		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10969518, 2000224, 27127179, 7633654, 8931221		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11104564, 27127179, 31882476, 32894086, 9414657	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11005564, 1306299, 18054557	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10682668, 11518545, 11689286, 11819821, 12770737, 19242752, 20150623, 7674088, 7880725, 7906606, 8187090, 8504411, 8690754, 9440618, 9923922		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of esophagus	Esophageal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	8632608		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11005564		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	7880725	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33932757	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	7917921	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	9021725		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	20054719		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	24966904	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	11260864, 24679424, 31494056		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	11260864	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30289989		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	17564975	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	12237237		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	9490271	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10328236, 11263856, 1594239, 18054557, 28006840, 7970729, 8396566, 8690754, 8761300		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	10090594, 10667431		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	10545700, 10561211, 10665650, 10998440, 11336166, 11571626, 12500293, 12787729, 1319833, 15139003, 15333653, 15646429, 1594239, 16125380, 17060676, 17143621, 17410283, 17690130, 18054557, 1868434, 19242752, 19721007, 20150623, 22158121, 2294591, 23585368, 25249451, 25773145, 26345965, 26429648, 26469098, 30811036, 30854646, 7678832, 7906606, 7917921, 8094072, 8188295, 8269282, 8297153, 8396566, 8553070, 8608570, 8761300, 8764933, 8876630, 8929264, 8931221, 9021725, 9207270, 9440618, 9484816, 9514909, 9609755, 9624418		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	15365072		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	10698524, 1319833, 8846166, 9422268, 9440618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11040453, 11481457, 11533074, 11571626, 12500293, 1347643, 16525993, 17410283, 23975090, 25249451, 26345965, 27398792, 28251919, 28926134, 29720400, 33648461, 34698107, 35489200, 7947085, 8096360, 8188295, 8396566, 8929264, 9207270	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11248093, 11684721, 18054557, 8490178	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	12787729, 15722793, 18054557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	15365072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corpus Callosum Malformation	Corpus Callosum Malformation	CTD_human_DG	28250454		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19543899		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	29843768		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	30718454, 35017462	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	38287090	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of the hippocampus	Dysgenesis of the hippocampus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	28250454	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10646905, 10818392, 15491747, 7514150, 7541639, 7880725, 9021725		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	7880725	Inhibit	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	GWASCAT_DG	25017104		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal carcinoma	Esophageal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
ESOPHAGEAL CARCINOMA, SOMATIC	ESOPHAGEAL CARCINOMA	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	1423299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma	Ewing sarcoma	BEFREE	10998440		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	10998440		★☆☆☆☆ Found in Text Mining only
Familial congenital mirror movements	Congenital Mirror Movements	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	23353777, 24827397, 31494056		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	GWASCAT_DG	22318345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	26602921	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	8297153		★☆☆☆☆ Found in Text Mining only
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis	Gaze Palsy, With Progressive Scoliosis	ORPHANET_DG	28250456		★☆☆☆☆ Found in Text Mining only
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1	Gaze palsy, familial horizontal, with progressive scoliosis	CTD_human_DG	28250456		★☆☆☆☆ Found in Text Mining only
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2	Gaze Palsy, With Progressive Scoliosis	UNIPROT_DG	28250456		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2	Gaze Palsy, With Progressive Scoliosis	GENOMICS_ENGLAND_DG	28250456		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germ cell tumor	Tumor	BEFREE	7936646		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	8242611, 9012460		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	8242611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	11684721	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	25569436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	25569436	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	16247226, 8490178	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26390996, 7696919, 8242611		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	8096360	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	8108146		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	BEFREE	1868434		★☆☆☆☆ Found in Text Mining only
Hereditary nonpolyposis colorectal carcinoma	Hereditary nonpolyposis colorectal cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	25569436		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	25569436	Associate	★☆☆☆☆ Found in Text Mining only
Horizontal gaze palsy with progressive scoliosis	Horizontal Gaze Palsy With Progressive Scoliosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Horizontal supranuclear gaze palsy	Supranuclear gaze palsy	CLINVAR_DG	28250456		★☆☆☆☆ Found in Text Mining only
Horizontal supranuclear gaze palsy	Supranuclear gaze palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	40508017	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19543899		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28250454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	28250456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isaacs syndrome	Isaacs Syndrome	BEFREE	28251919		★☆☆☆☆ Found in Text Mining only
Juvenile polyposis syndrome	Polyposis Syndrome	BEFREE	10479724		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	ORPHANET_DG	29202173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann syndrome	Kallmann Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leiomyosarcoma	Leiomyosarcoma	BEFREE	8198970		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	8198970	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma of uterus	Leiomyosarcoma Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26390996, 7696919, 8044801, 8338956, 8371579		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	8338956	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25996682	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	8338956	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12060632, 25996682, 7696919, 8338956, 8609244, 9631582		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12060632		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	8239512		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30289989, 9307185		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30289989		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11005564, 21610147	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27127179	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	11021817, 25569436	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	25569436, 26390996, 7572991		★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	19530241	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	7742542		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	7742542		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	25950802	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27089181, 29662059, 29700475, 29942085, 30718901		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	8242611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	2000224, 27127179, 9414657		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10646905, 10818392, 15491747		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	GWASDB_DG	22318345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	23353777, 24827397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	1591722, 8297153		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11005564		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	8239512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11454891, 20054719, 25644941, 7880725		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	10090407, 10479724, 11040453, 11520255, 8194712		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	9321930, 9331564		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	10605402, 11461076, 12081203, 1591722, 20150623, 22252584, 7676688, 8297153, 9828817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	8632608		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10066096, 10328236, 10601600, 12237237, 15491747, 15523694, 21789787, 23595968, 25644941, 26390996, 31083655, 7510345, 7860623, 7880725, 8044801, 8876630, 9021725, 9631582, 9645757		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10328236, 1594239, 18054557, 28006840, 7970729, 8396566, 8761300, 9046882, 9472645		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	15703832		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22842228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	35871235	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	11304690, 31083655		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	27096627	Associate	★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	28250456		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	BEFREE	20431009, 21242494, 25098561, 25813273, 28250454, 29366874, 30666715, 31697046		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	CLINVAR_DG	20431009, 21242494, 24808016, 28250456		★☆☆☆☆ Found in Text Mining only
Mirror movements disorder	Mirror Movements	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	26390996		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29187730, 37487843	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	8611386	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	8611386	Inhibit	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	10339657, 15703832		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	7799702, 9885983		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	30373548		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26390996, 31059005		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	28251919		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	28251919	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	7696919, 8371579, 8609244, 9631582		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	7696919, 7967738, 8338956		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30789913		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20473931	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10027410, 10066096, 10090594, 10328236, 10398431, 10479724, 10646905, 10665650, 10667431, 10682668, 10698524, 10719364, 10998440, 11004673, 11005564, 11040453, 11260864, 11274403, 11391794, 11520255, 11571626, 11979557, 12011992, 12174360, 12374684, 12901278, 1314700, 1347643, 14631365, 15491747, 15523694, 15703832, 1591722, 16337851, 16471312, 1670965, 16984618, 17018594, 17080251, 17143621, 17363581, 17410283, 18353983, 2000224, 20083228, 21837511, 23018873, 24679424, 26390996, 26429648, 26970738, 27222126, 28926134, 7510345, 7514150, 7518576, 7541639, 7576991, 7633654, 7660249, 7678832, 7780969, 7860623, 7923210, 7936646, 7967738, 8044801, 8094072, 8187088, 8187090, 8188295, 8242611, 8371415, 8504411, 8632608, 8640829, 8645930, 8834768, 8876630, 9012460, 9014856, 9021725, 9041179, 9101086, 9155051, 9207270, 9326914, 9331564, 9414657, 9440618, 9484816, 9516833, 9602705, 9666806, 9816273, 9820171, 9842974		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14631365		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	14631365		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10717528, 11232642, 11571626, 9288786, 9516833, 9645757, 9816273		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11232642, 11571626	Associate	★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	10998440		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11005564, 7923210		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Orofacial Cleft 1	Orofacial cleft	Pubtator	17564975	Associate	★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 11	Orofacial cleft	Pubtator	17564975	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24966904	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	9155051		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	9155051	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	10682668	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20054719		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10682668, 11438451, 21789787, 36941558	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	7880725	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	10090407, 10479724, 10530764, 11040453, 11520255, 8194712		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	1314700		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	9667665	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	21085126		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19832807		★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial agenesis of corpus callosum	Pubtator	36889039	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	24679424		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	28250456		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	7510345, 8504411, 9321930, 9331564		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17553164		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	29617376		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19304403		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15186270		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10998440		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	14571268		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22418395, 29136250, 30341038		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	22418395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	30285260, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	28250456		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	27225292		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	20473870	Associate	★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	11005564	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17018594, 18302152		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8187090		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	18302152, 9081374		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19430297, 20473870, 21628494, 22438973, 27027429, 28236344, 29927694, 33594807	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17018594, 27027429		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	10605402, 11461076, 12081203, 1591722, 20150623, 22252584, 7676688, 8297153, 9828817		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10605402, 11461076, 11518545, 11819821, 12174360, 9828817	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	12901294		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39681175	Associate	★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	7917921		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	28251919		★☆☆☆☆ Found in Text Mining only
Transitional cell carcinoma of bladder	Bladder carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19543899, 27153478, 9490271		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27089181		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22664184	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	7880725	Inhibit	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	14631365	Associate	★☆☆☆☆ Found in Text Mining only