Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1630
Gene name	DCC netrin 1 receptor
Gene symbol	DCC
Synonyms (NCBI Gene)	CRC18CRCR1HGPPS2IGDCC1MRMV1NTN1R1
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

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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

195

Show/Hide all (195)

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

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Transcription factor	Regulation	Reference
SOX9	Activation	19745029

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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

MIM	HGNC	e!Ensembl
120470	2701	ENSG00000187323

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

Interactions

View interactions

	KEGG		Reactome
	Axon guidance Pathways in cancer Colorectal cancer		Netrin-1 signaling DCC mediated attractive signaling Caspase activation via Dependence Receptors in the absence of ligand

133

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs2511454945	RCV003127317
Carcinoma of colon	Pathogenic	rs387906555	RCV000018603
Colorectal cancer	Pathogenic	rs2040184914	RCV001293822
Corpus callosum, agenesis of	Pathogenic	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057	RCV000416354 RCV000416317 RCV000416340 RCV000416336 RCV000416322 RCV000416342
DCC-related disorder	Likely pathogenic	rs2511378972, rs1406742141, rs2511800370	RCV003405764 RCV003406080 RCV003400235
Esophageal carcinoma, somatic	Pathogenic	rs121912967	RCV000018604
Gaze palsy, familial horizontal, with progressive scoliosis, 2	Pathogenic	rs1555682265	RCV000494700
Mirror movements 1	Likely pathogenic; Pathogenic	rs1909920586, rs2145024323, rs764481922, rs2511410848, rs797044552, rs754914260, rs797044553, rs797044556, rs2511644864, rs141228869, rs2511644683, rs2511456928, rs2511451201, rs2511369243, rs1057519053 View all (3 more)	RCV001645010 RCV001731260 RCV002221421 RCV002291478 RCV000192078 RCV000192079 RCV000192080 RCV000192083 RCV002810046 RCV002790024 RCV003127318 RCV003323274 RCV003387576 RCV003517511 RCV000494695 RCV000494699 RCV000494701 RCV005860096
Mirror movements 1 and/or agenesis of the corpus callosum	Pathogenic	rs2511800544	RCV003226141
Partial agenesis of the corpus callosum	Likely pathogenic	rs2144215711	RCV001391260

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs773315729, rs374199141, rs1057519058, rs748112308	-
Amenorrhea	Uncertain significance; Conflicting classifications of pathogenicity	rs181197485, rs187939463, rs141813053	RCV001849763 RCV001849764 RCV001849325
Malignant tumor of esophagus	Likely benign; Benign	rs375401214, rs141716650, rs138143831, rs112558388, rs186819956	RCV005926458 RCV002489314 RCV002501429 RCV002507554 RCV002502996

Show/Hide Text Mining Associations (97)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	10389977, 8440743
Adenocarcinoma Mucinous	Associate	10389977
Adenomatous Polyposis Coli	Associate	9545410
Agenesis of Corpus Callosum	Associate	28250454
Allanson Pantzar McLeod syndrome	Associate	36889039
Anhedonia	Associate	37487843
Anxiety	Associate	39681175
Aphasia	Associate	36889039
Astrocytoma	Inhibit	11684721
Attention Deficit Disorder with Hyperactivity	Associate	36889039
Autism Spectrum Disorder	Associate	38287090
Autistic Disorder	Associate	38287090
Breast Neoplasms	Associate	11104564, 27127179, 31882476, 32894086, 9414657
Carcinogenesis	Associate	11005564, 1306299, 18054557
Carcinoma Non Small Cell Lung	Associate	11005564
Carcinoma Ovarian Epithelial	Inhibit	7880725
Carcinoma Renal Cell	Associate	33932757
Carcinoma Transitional Cell	Associate	7917921
Cartilage Diseases	Associate	24966904
Cholangiocarcinoma	Associate	11260864
Chromosome 18 mosaic monosomy	Inhibit	8490178
Chromosome Aberrations	Associate	12500293
Cleft Palate	Associate	17564975
Colitis Ulcerative	Associate	9490271
Colorectal Neoplasms	Associate	11040453, 11481457, 11533074, 11571626, 12500293, 1347643, 16525993, 17410283, 23975090, 25249451, 26345965, 27398792, 28251919, 28926134, 29720400 View all (9 more)
Colorectal Neoplasms	Inhibit	11248093, 11684721, 18054557, 8490178
Depressive Disorder	Associate	30718454, 35017462
Developmental Disabilities	Associate	38287090
Ectodermal Dysplasia	Associate	28250454
Endometrial Neoplasms	Inhibit	7880725
Gallbladder Neoplasms	Associate	26602921
Genetic Diseases Inborn	Inhibit	11005564
Glioma	Inhibit	11684721
Glioma	Associate	25569436
Hematologic Neoplasms	Associate	16247226, 8490178
Hemochromatosis	Associate	40508017
Hereditary Breast and Ovarian Cancer Syndrome	Associate	8096360
Hodgkin Disease	Associate	25569436
Hypogonadism	Associate	40508017
Hypopharyngeal Neoplasms	Associate	38538728
Idiopathic Hypogonadotropic Hypogonadism	Associate	33208564
Isaacs Syndrome	Associate	28251919
Leiomyosarcoma	Associate	8198970
Leukemia	Associate	8338956
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	8204873
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	8338956
Leukemia Myeloid Acute	Associate	25996682
Leukemia Myeloid Acute	Inhibit	8338956
Lung Neoplasms	Associate	11005564, 21610147
Lymphatic Metastasis	Associate	27127179
Lymphoma	Associate	11021817, 25569436
Lymphoma Follicular	Associate	19530241
Lymphoma Non Hodgkin	Associate	19832807, 7742542, 9490271
Macular Degeneration	Associate	25950802
Melanoma	Associate	35871235
Melanoma Cutaneous Malignant	Associate	27640074
Meningioma	Associate	27096627
Mental Disorders	Associate	37487843
Mood Disorders	Associate	29187730, 37487843
Mouth Diseases	Associate	8611386
Mouth Neoplasms	Inhibit	8611386
Myasthenia Gravis	Associate	28251919
Nasopharyngeal Carcinoma	Associate	20473931
Neoplasm Metastasis	Associate	26345965, 29023534, 34698107
Neoplasm Metastasis	Inhibit	30858446
Neoplasms	Associate	10027329, 10665650, 10682668, 11571626, 12827550, 14631365, 16247226, 16525993, 16971669, 17410283, 20592015, 21628494, 21980448, 24995714, 26970738 View all (18 more)
Neoplasms	Inhibit	10027410, 10206299, 10993648, 11040453, 11260864, 11461076, 1306299, 1347643, 20971194, 27127179, 30858446, 35176183, 7742542, 9155051, 9414657, 9545410, 9820171 View all (2 more)
Neoplasms Cystic Mucinous and Serous	Inhibit	11438451
Neuroblastoma	Associate	11232642, 11571626
Non Muscle Invasive Bladder Neoplasms	Associate	7917921
Orofacial Cleft 1	Associate	17564975
Orofacial Cleft 11	Associate	17564975
Osteoarthritis	Associate	24966904
Osteosarcoma	Inhibit	9155051
Ovarian Diseases	Associate	10682668
Ovarian Neoplasms	Associate	10682668, 11438451, 21789787, 36941558
Ovarian Neoplasms	Inhibit	7880725
Pancreatic Neoplasms	Associate	9667665
Parkinson Disease	Associate	27640074
Partial agenesis of corpus callosum	Associate	36889039
Periodontitis	Associate	34101221
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	8338956, 8490178
Primary Myelofibrosis	Associate	35176183
Prodromal Symptoms	Associate	8929264
Reproductive Tract Infections	Inhibit	7880725
Sick Sinus Syndrome	Associate	20473870
Small Cell Lung Carcinoma	Associate	11005564
Soft Tissue Neoplasms	Associate	8198970
Squamous Cell Carcinoma of Head and Neck	Associate	19430297, 20473870, 21628494, 22438973, 27027429, 28236344, 29927694, 33594807
Stomach Neoplasms	Associate	10605402, 11461076, 11518545, 11819821, 12174360, 9828817
Stroke	Associate	39681175
Tachycardia Atrioventricular Nodal Reentry	Associate	11518545
Thymoma	Associate	28251919
Uterine Cervical Neoplasms	Associate	22664184
Uterine Cervical Neoplasms	Inhibit	7880725
Uterine Cervicitis	Associate	10389977
Wilms Tumor	Associate	14631365

DCC (DCC netrin 1 receptor)