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 Associated diseases
Entrez ID	51473
Gene name	Doublecortin domain containing 2
Gene symbol	DCDC2
Synonyms (NCBI Gene)	DCDC2ADFNB66NPHP19NSCRU2RU2S
Chromosome	6
Chromosome location	6p22.3
Summary	This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41271773	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141060456	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs142088541	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144695853	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145154884	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880299	T>A	Pathogenic	Stop gained, coding sequence variant
rs760040426	T>C	Pathogenic	Splice acceptor variant
rs765613994	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs774115675	->C	Pathogenic	Frameshift variant, coding sequence variant
rs775868003	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs794729665	T>G	Pathogenic	Missense variant, coding sequence variant
rs904520404	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs904944428	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs909339162	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1050411259	A>T	Pathogenic	Stop gained, coding sequence variant
rs1554121105	T>C	Pathogenic	Splice acceptor variant
rs1554144869	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581640646	->A	Likely-pathogenic	Coding sequence variant, frameshift variant

197

Show/Hide all (197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043780	hsa-miR-328-3p	CLASH	23622248
MIRT538182	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT538181	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT538180	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT538179	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT538178	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT538177	hsa-miR-581	PAR-CLIP	22012620
MIRT538176	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT538175	hsa-miR-592	PAR-CLIP	22012620
MIRT538174	hsa-miR-5692a	PAR-CLIP	22012620
MIRT538173	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT538172	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT538171	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT538170	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT538169	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT538168	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT538182	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT538181	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT538180	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT538179	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT538178	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT538177	hsa-miR-581	PAR-CLIP	22012620
MIRT538176	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT538175	hsa-miR-592	PAR-CLIP	22012620
MIRT538174	hsa-miR-5692a	PAR-CLIP	22012620
MIRT538173	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT538172	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT538171	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT538170	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT538169	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT538168	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT925868	hsa-miR-1206	CLIP-seq
MIRT925869	hsa-miR-125a-3p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925871	hsa-miR-1298	CLIP-seq
MIRT925872	hsa-miR-137	CLIP-seq
MIRT925873	hsa-miR-155	CLIP-seq
MIRT925874	hsa-miR-1827	CLIP-seq
MIRT925875	hsa-miR-186	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925877	hsa-miR-3143	CLIP-seq
MIRT925878	hsa-miR-3189-5p	CLIP-seq
MIRT925879	hsa-miR-3194-3p	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT925881	hsa-miR-3607-3p	CLIP-seq
MIRT925882	hsa-miR-3612	CLIP-seq
MIRT925883	hsa-miR-3622a-3p	CLIP-seq
MIRT925884	hsa-miR-3622b-3p	CLIP-seq
MIRT925885	hsa-miR-365	CLIP-seq
MIRT925886	hsa-miR-3653	CLIP-seq
MIRT925887	hsa-miR-3658	CLIP-seq
MIRT925888	hsa-miR-3686	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT925890	hsa-miR-3934	CLIP-seq
MIRT925891	hsa-miR-411	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT925893	hsa-miR-4433	CLIP-seq
MIRT925894	hsa-miR-4459	CLIP-seq
MIRT925895	hsa-miR-4484	CLIP-seq
MIRT925896	hsa-miR-4695-5p	CLIP-seq
MIRT925897	hsa-miR-4719	CLIP-seq
MIRT925898	hsa-miR-4758-3p	CLIP-seq
MIRT925899	hsa-miR-4760-5p	CLIP-seq
MIRT925900	hsa-miR-4767	CLIP-seq
MIRT925901	hsa-miR-4768-3p	CLIP-seq
MIRT925902	hsa-miR-544b	CLIP-seq
MIRT925903	hsa-miR-548a-3p	CLIP-seq
MIRT925904	hsa-miR-548e	CLIP-seq
MIRT925905	hsa-miR-548f	CLIP-seq
MIRT925906	hsa-miR-590-3p	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT925908	hsa-miR-650	CLIP-seq
MIRT925909	hsa-miR-665	CLIP-seq
MIRT925910	hsa-miR-764	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925911	hsa-miR-128	CLIP-seq
MIRT925912	hsa-miR-1290	CLIP-seq
MIRT925913	hsa-miR-1297	CLIP-seq
MIRT925914	hsa-miR-130a	CLIP-seq
MIRT925915	hsa-miR-130b	CLIP-seq
MIRT925916	hsa-miR-145	CLIP-seq
MIRT925917	hsa-miR-148a	CLIP-seq
MIRT925918	hsa-miR-148b	CLIP-seq
MIRT925919	hsa-miR-152	CLIP-seq
MIRT925873	hsa-miR-155	CLIP-seq
MIRT925920	hsa-miR-1825	CLIP-seq
MIRT925874	hsa-miR-1827	CLIP-seq
MIRT925921	hsa-miR-199a-5p	CLIP-seq
MIRT925922	hsa-miR-199b-5p	CLIP-seq
MIRT925923	hsa-miR-19a	CLIP-seq
MIRT925924	hsa-miR-19b	CLIP-seq
MIRT925925	hsa-miR-203	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925926	hsa-miR-2681	CLIP-seq
MIRT925927	hsa-miR-26a	CLIP-seq
MIRT925928	hsa-miR-26b	CLIP-seq
MIRT925929	hsa-miR-301a	CLIP-seq
MIRT925930	hsa-miR-301b	CLIP-seq
MIRT925931	hsa-miR-3074-3p	CLIP-seq
MIRT925932	hsa-miR-3146	CLIP-seq
MIRT925933	hsa-miR-3148	CLIP-seq
MIRT925934	hsa-miR-3165	CLIP-seq
MIRT925935	hsa-miR-3167	CLIP-seq
MIRT925878	hsa-miR-3189-5p	CLIP-seq
MIRT925879	hsa-miR-3194-3p	CLIP-seq
MIRT925881	hsa-miR-3607-3p	CLIP-seq
MIRT925882	hsa-miR-3612	CLIP-seq
MIRT925936	hsa-miR-3616-5p	CLIP-seq
MIRT925937	hsa-miR-3646	CLIP-seq
MIRT925938	hsa-miR-3647-5p	CLIP-seq
MIRT925885	hsa-miR-365	CLIP-seq
MIRT925939	hsa-miR-3666	CLIP-seq
MIRT925940	hsa-miR-3674	CLIP-seq
MIRT925888	hsa-miR-3686	CLIP-seq
MIRT925941	hsa-miR-3688-5p	CLIP-seq
MIRT925942	hsa-miR-3913-3p	CLIP-seq
MIRT925943	hsa-miR-3921	CLIP-seq
MIRT925891	hsa-miR-411	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT925944	hsa-miR-4279	CLIP-seq
MIRT925945	hsa-miR-4295	CLIP-seq
MIRT925894	hsa-miR-4459	CLIP-seq
MIRT925946	hsa-miR-4465	CLIP-seq
MIRT925947	hsa-miR-4496	CLIP-seq
MIRT925948	hsa-miR-454	CLIP-seq
MIRT925949	hsa-miR-4637	CLIP-seq
MIRT925950	hsa-miR-4653-5p	CLIP-seq
MIRT925951	hsa-miR-4668-3p	CLIP-seq
MIRT925952	hsa-miR-4686	CLIP-seq
MIRT925896	hsa-miR-4695-5p	CLIP-seq
MIRT925953	hsa-miR-4703-3p	CLIP-seq
MIRT925954	hsa-miR-4711-3p	CLIP-seq
MIRT925898	hsa-miR-4758-3p	CLIP-seq
MIRT925899	hsa-miR-4760-5p	CLIP-seq
MIRT925955	hsa-miR-4795-5p	CLIP-seq
MIRT925956	hsa-miR-489	CLIP-seq
MIRT925957	hsa-miR-490-3p	CLIP-seq
MIRT925958	hsa-miR-495	CLIP-seq
MIRT925959	hsa-miR-498	CLIP-seq
MIRT925960	hsa-miR-511	CLIP-seq
MIRT925961	hsa-miR-520f	CLIP-seq
MIRT925903	hsa-miR-548a-3p	CLIP-seq
MIRT925904	hsa-miR-548e	CLIP-seq
MIRT925905	hsa-miR-548f	CLIP-seq
MIRT925962	hsa-miR-573	CLIP-seq
MIRT925906	hsa-miR-590-3p	CLIP-seq
MIRT925963	hsa-miR-619	CLIP-seq
MIRT925908	hsa-miR-650	CLIP-seq
MIRT925909	hsa-miR-665	CLIP-seq
MIRT925964	hsa-miR-7	CLIP-seq
MIRT925965	hsa-miR-876-5p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT1974341	hsa-miR-410	CLIP-seq
MIRT925869	hsa-miR-125a-3p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT2209768	hsa-miR-196a	CLIP-seq
MIRT2209769	hsa-miR-196b	CLIP-seq
MIRT2209770	hsa-miR-24	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925931	hsa-miR-3074-3p	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT2209771	hsa-miR-3649	CLIP-seq
MIRT2209772	hsa-miR-374a	CLIP-seq
MIRT2209773	hsa-miR-374b	CLIP-seq
MIRT2209774	hsa-miR-382	CLIP-seq
MIRT2209775	hsa-miR-3927	CLIP-seq
MIRT925890	hsa-miR-3934	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT2209776	hsa-miR-4291	CLIP-seq
MIRT2209777	hsa-miR-4528	CLIP-seq
MIRT2209778	hsa-miR-4670-3p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2209780	hsa-miR-561	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT925910	hsa-miR-764	CLIP-seq
MIRT2209781	hsa-miR-873	CLIP-seq
MIRT2448071	hsa-miR-1283	CLIP-seq
MIRT2448072	hsa-miR-3120-5p	CLIP-seq
MIRT2448073	hsa-miR-4684-5p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2448074	hsa-miR-593	CLIP-seq
MIRT2513557	hsa-miR-3125	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT2513558	hsa-miR-3916	CLIP-seq
MIRT2513559	hsa-miR-4311	CLIP-seq
MIRT2513560	hsa-miR-451b	CLIP-seq
MIRT2513561	hsa-miR-4696	CLIP-seq
MIRT2513562	hsa-miR-877	CLIP-seq
MIRT2448071	hsa-miR-1283	CLIP-seq
MIRT2448072	hsa-miR-3120-5p	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT2679062	hsa-miR-4662a-5p	CLIP-seq
MIRT2448073	hsa-miR-4684-5p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2448074	hsa-miR-593	CLIP-seq

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Transcription factor	Regulation	Reference
EHF	Repression	22733135

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	ISS
GO:0001764	Process	Neuron migration	NAS	16278297
GO:0005515	Function	Protein binding	IPI	21698230, 25416956, 25557784, 32296183
GO:0005737	Component	Cytoplasm	IDA	21698230, 27319779
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005929	Component	Cilium	IDA	21698230, 25601850, 27319779
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	25557784, 27319779
GO:0006968	Process	Cellular defense response	TAS	10601354
GO:0007399	Process	Nervous system development	IEA
GO:0007605	Process	Sensory perception of sound	IMP	25601850
GO:0019894	Function	Kinesin binding	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IMP	25557784
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IMP	21698230
GO:0048813	Process	Dendrite morphogenesis	IBA
GO:0060091	Component	Kinocilium	IBA
GO:0060091	Component	Kinocilium	IEA
GO:0060091	Component	Kinocilium	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	27319779
GO:1902017	Process	Regulation of cilium assembly	IBA
GO:1902017	Process	Regulation of cilium assembly	IMP	25601850

MIM	HGNC	e!Ensembl
605755	18141	ENSG00000146038

Q9UHG0

Protein name

Doublecortin domain-containing protein 2 (Protein RU2S)

Protein function

Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and cil

PDB

2DNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03607	DCX	35 → 94	Doublecortin	Family
PF03607	DCX	157 → 215	Doublecortin	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus (PubMed:10601354, PubMed:16278297). Expressed in liver by cholangiocy

Sequence

MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSFEVFLKEVTGGVQAPFG
AVRNIYTPRTGHRIRKLDQIQSGGNYVAGGQEAFKKLNYLDIGEIKKRPMEVVNTEVKPV
IHSRINVSARFRKPLQEPCTIFLIANGDLINPASRLLIPRKTLNQWDHVLQMVTEKITLR
SGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKLPYSELLFDKSTMRRPFGQKASS
LPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKRKGKKEDVNSEKLTKLKQNVKLKNS
QETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKANKDA
EQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVN
NELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYAAVA

Sequence length

476

Interactions

View interactions

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)

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive nonsyndromic hearing loss 66	Likely pathogenic; Pathogenic	rs2113838226, rs794729665, rs757704417, rs760040426, rs762516961, rs1050411259, rs904944428, rs904520404, rs1554144869, rs1554121105, rs774115675, rs1581640646	RCV002012513 RCV000185587 RCV002498782 RCV002498783 RCV003778285 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chylomicron retention disease	Pathogenic	rs2127255428	RCV001507091	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DCDC2-related disorder	Pathogenic; Likely pathogenic	rs763299947, rs762516961, rs962387857, rs1554144869, rs774115675	RCV005869752 RCV003427883 RCV003412193 RCV003403404 RCV003392566	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyslexia, susceptibility to, 2	Pathogenic	rs757704417	RCV001335811	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated neonatal sclerosing cholangitis	Likely pathogenic; Pathogenic	rs2113838226, rs2113838075, rs730880299, rs757704417, rs760040426, rs762516961, rs2532474939, rs1042640142, rs1050411259, rs904944428, rs904520404, rs1554144869, rs1554121105, rs774115675, rs1581640646, rs1761673797 View all (1 more)	RCV002012513 RCV002250970 RCV000477678 RCV000477717 RCV002498783 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 19	Pathogenic; Likely pathogenic	rs730880299, rs757704417, rs760040426, rs762516961, rs760084731, rs1050411259, rs904944428, rs904520404, rs1554144869, rs1554121105, rs774115675, rs1581640646, rs1760494153	RCV000157642 RCV000157643 RCV000157644 RCV004796806 RCV003988663 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonsyndromic Deafness	Pathogenic	rs794729665	RCV000157618	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOICHIS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGITIS, SCLEROSING	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 66	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS, AUTOSOMAL RECESSIVE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal ichthyosis-sclerosing cholangitis syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENIOR-BOICHIS SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (123)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	30538546		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	29990322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29893118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15672551, 17014688, 17510731, 18004513, 24069165, 25859013, 26708289, 27617773, 27943621, 28043791, 28163215, 28334913, 28510254, 28611587, 28687401 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	18006498		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	39202429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	19362708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	19362708, 30379906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory Perceptual Disorders	Auditory perceptual disorder	Pubtator	19362708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15374993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21253455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	12451475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19821999, 29028086, 30831392, 31617353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29028086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24034596	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21253455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19414586, 25302833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	29019283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	28629835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31776872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	30178851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29650593		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	29990322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	31821705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15374993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31610634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25557784, 27319779, 27451412		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	35570614	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	24926531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21311763, 29857489, 31366902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hydrocephalus	Congenital Hydrocephalus	BEFREE	31328313		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	29765412		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Recessive 53	Deafness	BEFREE	16752389		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 66	Deafness	GENOMICS_ENGLAND_DG	25557784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 66	Deafness	UNIPROT_DG	25601850		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 66	Deafness	CLINVAR_DG	27469900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 66	Deafness	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental reading disorder	Developmental dyslexia	BEFREE	17033633, 20068590, 21046216, 21203818, 21881542, 22490485, 23677054, 24926531, 25230923, 25270309, 25877001, 28182973, 28400808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30548930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30548930		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	19362708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	15717286, 16385449, 19018237, 20068590, 20846247, 21042874, 21046216, 21165691, 21438145, 21881542, 23176554, 23746548, 24022301, 24926531, 25339756 View all (13 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	BEFREE	16278297, 16385449, 17450541, 18313856, 18810304, 19018237, 19238550, 19302769, 20068590, 21042874, 21104116, 21165691, 21881542, 23229871, 23677054 View all (15 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslexia	Dyslexia	LHGDN	16385449, 19018237		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyslipidemias	Dyslipidemias	BEFREE	30572503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	27484312	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12451475, 29614416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12451475, 29614416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31789425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	25557784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	30867054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated neonatal sclerosing cholangitis	Isolated Sclerosing Cholangitis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Kidney Diseases	Kidney disease	Pubtator	35570614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	31821705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	10601354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	21457949, 23746548, 26660103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	23746548, 24509779, 26660103, 39202429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	BEFREE	24926531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	24926531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12451475, 27862776, 29254232, 3026621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	24799522, 29235481, 29254232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22098470, 22781398, 24034596, 27213353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29945021		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	16385449, 18313856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31789425		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19821999, 29028086, 30831392, 31617353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19414586, 25302833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22733135, 30887931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21253455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19910110, 20045420, 24034596, 25651236, 28150943, 28923379, 29436828, 30023674, 30282320, 30654687, 30711558, 31460277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21311763, 29857489, 31366902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	29990322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29220685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	16125275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18319333, 24913924		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24799522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10656455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	29661576		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10462535, 12740906, 19074827, 19856100, 21311763, 21802840, 22733135, 23382585, 24034596, 25302833, 25576833, 28425859, 28865744, 29028086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	12451475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	31821705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEPHRONOPHTHISIS 19	Nephronophthisis	GENOMICS_ENGLAND_DG	22558177, 25557784, 27469900		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 19	Nephronophthisis	BEFREE	31821705		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 19	Nephronophthisis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHRONOPHTHISIS 19	Nephronophthisis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
nervous system disorder	Nervous System Disorder	BEFREE	31173371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26247726, 29324904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30867054		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30831390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	21816241		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	22558177, 25130614, 25601850		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINVAR_DG	25601850		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Obesity	Obesity	BEFREE	24963607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30355920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	16708545, 20374434, 27943621		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia	BEFREE	18313856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22733135, 30887931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22733135		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	20043111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21507613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	21507613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	GENOMICS_ENGLAND_DG	25557784, 27469900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	27319779, 27469900, 29316558, 30367658		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	UNIPROT_DG	27319779, 27469900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	CLINVAR_DG	27469900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senior-Boichis syndrome	Senior-Boichis Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	31778275		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30831392		★★★★★ ★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	28611587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29512782		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	34228165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DCDC2 (doublecortin domain containing 2)