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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80254
Gene name	Centrosomal protein 63
Gene symbol	CEP63
Synonyms (NCBI Gene)	SCKL6
Chromosome	3
Chromosome location	3q22.2
Summary	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs142766824	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs746387482	->TTAA	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, inframe indel, stop gained
rs752207334	G>A,T	Pathogenic	Splice acceptor variant
rs763001827	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant, stop gained
rs1164567042	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained, missense variant
rs1266747910	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

224

Show/Hide all (224)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000831	hsa-miR-15a-5p	Microarray	18362358
MIRT000830	hsa-miR-16-5p	Microarray	18362358
MIRT659578	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT659577	hsa-miR-5682	HITS-CLIP	23824327
MIRT659576	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT659578	hsa-miR-585-5p	HITS-CLIP	23824327
MIRT659577	hsa-miR-5682	HITS-CLIP	23824327
MIRT659576	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT886247	hsa-miR-124	CLIP-seq
MIRT886248	hsa-miR-1252	CLIP-seq
MIRT886249	hsa-miR-1256	CLIP-seq
MIRT886250	hsa-miR-1286	CLIP-seq
MIRT886251	hsa-miR-148a	CLIP-seq
MIRT886252	hsa-miR-148b	CLIP-seq
MIRT886253	hsa-miR-152	CLIP-seq
MIRT886254	hsa-miR-1825	CLIP-seq
MIRT886255	hsa-miR-194	CLIP-seq
MIRT886256	hsa-miR-2467-3p	CLIP-seq
MIRT886257	hsa-miR-2682	CLIP-seq
MIRT886258	hsa-miR-299-3p	CLIP-seq
MIRT886259	hsa-miR-3120-3p	CLIP-seq
MIRT886260	hsa-miR-3140-5p	CLIP-seq
MIRT886261	hsa-miR-3201	CLIP-seq
MIRT886262	hsa-miR-34b	CLIP-seq
MIRT886263	hsa-miR-3614-5p	CLIP-seq
MIRT886264	hsa-miR-3664-3p	CLIP-seq
MIRT886265	hsa-miR-3678-3p	CLIP-seq
MIRT886266	hsa-miR-3714	CLIP-seq
MIRT886267	hsa-miR-3908	CLIP-seq
MIRT886268	hsa-miR-3910	CLIP-seq
MIRT886269	hsa-miR-3919	CLIP-seq
MIRT886270	hsa-miR-3943	CLIP-seq
MIRT886271	hsa-miR-4293	CLIP-seq
MIRT886272	hsa-miR-4323	CLIP-seq
MIRT886273	hsa-miR-4433	CLIP-seq
MIRT886274	hsa-miR-4459	CLIP-seq
MIRT886275	hsa-miR-4476	CLIP-seq
MIRT886276	hsa-miR-449c	CLIP-seq
MIRT886277	hsa-miR-4533	CLIP-seq
MIRT886278	hsa-miR-4722-5p	CLIP-seq
MIRT886279	hsa-miR-4764-5p	CLIP-seq
MIRT886280	hsa-miR-4766-5p	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT886282	hsa-miR-4791	CLIP-seq
MIRT886283	hsa-miR-495	CLIP-seq
MIRT886284	hsa-miR-506	CLIP-seq
MIRT886285	hsa-miR-555	CLIP-seq
MIRT886286	hsa-miR-873	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT886288	hsa-miR-1185	CLIP-seq
MIRT886289	hsa-miR-1208	CLIP-seq
MIRT886290	hsa-miR-1224-3p	CLIP-seq
MIRT886291	hsa-miR-1260	CLIP-seq
MIRT886292	hsa-miR-1260b	CLIP-seq
MIRT886293	hsa-miR-1262	CLIP-seq
MIRT886294	hsa-miR-1280	CLIP-seq
MIRT886250	hsa-miR-1286	CLIP-seq
MIRT886255	hsa-miR-194	CLIP-seq
MIRT886295	hsa-miR-218	CLIP-seq
MIRT886257	hsa-miR-2682	CLIP-seq
MIRT886296	hsa-miR-296-5p	CLIP-seq
MIRT886297	hsa-miR-3117-5p	CLIP-seq
MIRT886259	hsa-miR-3120-3p	CLIP-seq
MIRT886298	hsa-miR-3127-5p	CLIP-seq
MIRT886260	hsa-miR-3140-5p	CLIP-seq
MIRT886299	hsa-miR-3179	CLIP-seq
MIRT886300	hsa-miR-3605-5p	CLIP-seq
MIRT886301	hsa-miR-3679-5p	CLIP-seq
MIRT886302	hsa-miR-376c	CLIP-seq
MIRT886267	hsa-miR-3908	CLIP-seq
MIRT886303	hsa-miR-3918	CLIP-seq
MIRT886270	hsa-miR-3943	CLIP-seq
MIRT886304	hsa-miR-4263	CLIP-seq
MIRT886272	hsa-miR-4323	CLIP-seq
MIRT886305	hsa-miR-433	CLIP-seq
MIRT886276	hsa-miR-449c	CLIP-seq
MIRT886306	hsa-miR-4509	CLIP-seq
MIRT886307	hsa-miR-4519	CLIP-seq
MIRT886308	hsa-miR-452	CLIP-seq
MIRT886309	hsa-miR-4642	CLIP-seq
MIRT886310	hsa-miR-4661-3p	CLIP-seq
MIRT886311	hsa-miR-4676-3p	CLIP-seq
MIRT886312	hsa-miR-4701-3p	CLIP-seq
MIRT886313	hsa-miR-4720-5p	CLIP-seq
MIRT886314	hsa-miR-4729	CLIP-seq
MIRT886315	hsa-miR-4731-5p	CLIP-seq
MIRT886316	hsa-miR-4744	CLIP-seq
MIRT886280	hsa-miR-4766-5p	CLIP-seq
MIRT886317	hsa-miR-4777-3p	CLIP-seq
MIRT886318	hsa-miR-4799-3p	CLIP-seq
MIRT886319	hsa-miR-4799-5p	CLIP-seq
MIRT886320	hsa-miR-576-5p	CLIP-seq
MIRT886321	hsa-miR-579	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT886289	hsa-miR-1208	CLIP-seq
MIRT886250	hsa-miR-1286	CLIP-seq
MIRT886255	hsa-miR-194	CLIP-seq
MIRT886257	hsa-miR-2682	CLIP-seq
MIRT886297	hsa-miR-3117-5p	CLIP-seq
MIRT886259	hsa-miR-3120-3p	CLIP-seq
MIRT886260	hsa-miR-3140-5p	CLIP-seq
MIRT886322	hsa-miR-345	CLIP-seq
MIRT886300	hsa-miR-3605-5p	CLIP-seq
MIRT886323	hsa-miR-3646	CLIP-seq
MIRT886264	hsa-miR-3664-3p	CLIP-seq
MIRT886324	hsa-miR-3667-5p	CLIP-seq
MIRT886267	hsa-miR-3908	CLIP-seq
MIRT886270	hsa-miR-3943	CLIP-seq
MIRT886272	hsa-miR-4323	CLIP-seq
MIRT886273	hsa-miR-4433	CLIP-seq
MIRT886274	hsa-miR-4459	CLIP-seq
MIRT886276	hsa-miR-449c	CLIP-seq
MIRT886307	hsa-miR-4519	CLIP-seq
MIRT886308	hsa-miR-452	CLIP-seq
MIRT886325	hsa-miR-4645-3p	CLIP-seq
MIRT886311	hsa-miR-4676-3p	CLIP-seq
MIRT886326	hsa-miR-4694-5p	CLIP-seq
MIRT886314	hsa-miR-4729	CLIP-seq
MIRT886280	hsa-miR-4766-5p	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT886321	hsa-miR-579	CLIP-seq
MIRT886327	hsa-miR-618	CLIP-seq
MIRT886328	hsa-miR-759	CLIP-seq
MIRT886329	hsa-miR-877	CLIP-seq
MIRT886330	hsa-miR-9	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT1546417	hsa-miR-224	CLIP-seq
MIRT1546418	hsa-miR-23a	CLIP-seq
MIRT1546419	hsa-miR-23b	CLIP-seq
MIRT1546420	hsa-miR-23c	CLIP-seq
MIRT1546421	hsa-miR-545	CLIP-seq
MIRT1962824	hsa-miR-105	CLIP-seq
MIRT1962825	hsa-miR-1225-3p	CLIP-seq
MIRT1962826	hsa-miR-1233	CLIP-seq
MIRT886247	hsa-miR-124	CLIP-seq
MIRT1962827	hsa-miR-1244	CLIP-seq
MIRT1962828	hsa-miR-1305	CLIP-seq
MIRT1962829	hsa-miR-186	CLIP-seq
MIRT1962830	hsa-miR-3074-5p	CLIP-seq
MIRT1962831	hsa-miR-3133	CLIP-seq
MIRT1962832	hsa-miR-3171	CLIP-seq
MIRT1962833	hsa-miR-3174	CLIP-seq
MIRT886262	hsa-miR-34b	CLIP-seq
MIRT886263	hsa-miR-3614-5p	CLIP-seq
MIRT1962834	hsa-miR-3663-3p	CLIP-seq
MIRT886266	hsa-miR-3714	CLIP-seq
MIRT886268	hsa-miR-3910	CLIP-seq
MIRT1962835	hsa-miR-3940-3p	CLIP-seq
MIRT886306	hsa-miR-4509	CLIP-seq
MIRT1962836	hsa-miR-4667-5p	CLIP-seq
MIRT886326	hsa-miR-4694-5p	CLIP-seq
MIRT1962837	hsa-miR-4700-5p	CLIP-seq
MIRT886278	hsa-miR-4722-5p	CLIP-seq
MIRT886316	hsa-miR-4744	CLIP-seq
MIRT1962838	hsa-miR-4760-5p	CLIP-seq
MIRT1962839	hsa-miR-4764-3p	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT1962840	hsa-miR-4779	CLIP-seq
MIRT886319	hsa-miR-4799-5p	CLIP-seq
MIRT886284	hsa-miR-506	CLIP-seq
MIRT1962841	hsa-miR-576-3p	CLIP-seq
MIRT1962842	hsa-miR-637	CLIP-seq
MIRT1962843	hsa-miR-802	CLIP-seq
MIRT1962844	hsa-miR-921	CLIP-seq
MIRT1962845	hsa-miR-935	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT1962839	hsa-miR-4764-3p	CLIP-seq
MIRT2199195	hsa-miR-508-5p	CLIP-seq
MIRT886255	hsa-miR-194	CLIP-seq
MIRT886297	hsa-miR-3117-5p	CLIP-seq
MIRT886259	hsa-miR-3120-3p	CLIP-seq
MIRT2199196	hsa-miR-3122	CLIP-seq
MIRT886260	hsa-miR-3140-5p	CLIP-seq
MIRT2199197	hsa-miR-3165	CLIP-seq
MIRT886262	hsa-miR-34b	CLIP-seq
MIRT2199198	hsa-miR-3689d	CLIP-seq
MIRT886266	hsa-miR-3714	CLIP-seq
MIRT886267	hsa-miR-3908	CLIP-seq
MIRT2199199	hsa-miR-3913-5p	CLIP-seq
MIRT1962835	hsa-miR-3940-3p	CLIP-seq
MIRT2199200	hsa-miR-4292	CLIP-seq
MIRT2199201	hsa-miR-4308	CLIP-seq
MIRT2199202	hsa-miR-4451	CLIP-seq
MIRT2199203	hsa-miR-4456	CLIP-seq
MIRT2199204	hsa-miR-4505	CLIP-seq
MIRT886278	hsa-miR-4722-5p	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT886261	hsa-miR-3201	CLIP-seq
MIRT886314	hsa-miR-4729	CLIP-seq
MIRT886282	hsa-miR-4791	CLIP-seq
MIRT1962825	hsa-miR-1225-3p	CLIP-seq
MIRT1962826	hsa-miR-1233	CLIP-seq
MIRT886247	hsa-miR-124	CLIP-seq
MIRT2501982	hsa-miR-3120-5p	CLIP-seq
MIRT886262	hsa-miR-34b	CLIP-seq
MIRT886263	hsa-miR-3614-5p	CLIP-seq
MIRT2501983	hsa-miR-3664-5p	CLIP-seq
MIRT2501984	hsa-miR-3672	CLIP-seq
MIRT886266	hsa-miR-3714	CLIP-seq
MIRT886268	hsa-miR-3910	CLIP-seq
MIRT1962835	hsa-miR-3940-3p	CLIP-seq
MIRT2501985	hsa-miR-4522	CLIP-seq
MIRT886278	hsa-miR-4722-5p	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT886284	hsa-miR-506	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq
MIRT1962825	hsa-miR-1225-3p	CLIP-seq
MIRT1962826	hsa-miR-1233	CLIP-seq
MIRT886247	hsa-miR-124	CLIP-seq
MIRT2501982	hsa-miR-3120-5p	CLIP-seq
MIRT886262	hsa-miR-34b	CLIP-seq
MIRT886263	hsa-miR-3614-5p	CLIP-seq
MIRT2501983	hsa-miR-3664-5p	CLIP-seq
MIRT2501984	hsa-miR-3672	CLIP-seq
MIRT886266	hsa-miR-3714	CLIP-seq
MIRT886268	hsa-miR-3910	CLIP-seq
MIRT1962835	hsa-miR-3940-3p	CLIP-seq
MIRT2501985	hsa-miR-4522	CLIP-seq
MIRT886278	hsa-miR-4722-5p	CLIP-seq
MIRT886314	hsa-miR-4729	CLIP-seq
MIRT886281	hsa-miR-4768-3p	CLIP-seq
MIRT886284	hsa-miR-506	CLIP-seq
MIRT886287	hsa-miR-940	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	ISS
GO:0000922	Component	Spindle pole	ISS
GO:0005515	Function	Protein binding	IPI	12812986, 17043677, 20360068, 21516116, 22458338, 24240477, 25416956, 25910212, 26297806, 26496610, 26638075, 26871637, 27107012, 30021884, 31413325, 31515488, 32296183, 32402286, 32814053, 33961781, 35709258
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	35793002
GO:0005813	Component	Centrosome	IDA	14654843, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007099	Process	Centriole replication	IBA
GO:0007099	Process	Centriole replication	IMP	26297806
GO:0007099	Process	Centriole replication	ISS
GO:0010498	Process	Proteasomal protein catabolic process	IDA	35793002
GO:0034451	Component	Centriolar satellite	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042770	Process	Signal transduction in response to DNA damage	ISS
GO:0045087	Process	Innate immune response	IDA	25636800
GO:0045824	Process	Negative regulation of innate immune response	IDA	35793002
GO:0045824	Process	Negative regulation of innate immune response	IDA	35793002
GO:0050821	Process	Protein stabilization	IDA	35989368
GO:0051225	Process	Spindle assembly	ISS
GO:0051301	Process	Cell division	IEA
GO:0060090	Function	Molecular adaptor activity	IDA	35793002
GO:0098535	Process	De novo centriole assembly involved in multi-ciliated epithelial cell differentiation	IBA
GO:1900045	Process	Negative regulation of protein K63-linked ubiquitination	IDA	35989368

MIM	HGNC	e!Ensembl
614724	25815	ENSG00000182923

Q96MT8

Protein name

Centrosomal protein of 63 kDa (Cep63)

Protein function

Required for normal spindle assembly (PubMed:21406398, PubMed:21983783, PubMed:26297806, PubMed:35793002). Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 throug

PDB

6CSU , 6CSV , 7W91

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17045	CEP63	18 → 280	Centrosomal protein of 63 kDa	Coiled-coil

Sequence

MEALLEGIQNRGHGGGFLTSCEAELQELMKQIDIMVAHKKSEWEGRTHALETCLKIREQE
LKSLRSQLDVTHKEVGMLHQQVEEHEKIKQEMTMEYKQELKKLHEELCILKRSYEKLQKK
QMREFRGNTKNHREDRSEIERLTAKIEEFRQKSLDWEKQRLIYQQQVSSLEAQRKALAEQ
SEIIQAQLVNRKQKLESVELSSQSEIQHLSSKLERANDTICANELEIERLTMRVNDLVGT
SMTVLQEQQQKEEKLRESEKLLEALQEEKRELKAALQSQENLIHEARIQKEKLQEKVKAT
NTQHAVEAIRPREESLAEKKYTSQGQGDLDSVLSQLNFTHTSEDLLQAEVTCLEGSLESV
SATCKQLSQELMEKYEELKRMEAHNNEYKAEIKKLKEQILQGEQSYSSALEGMKMEISHL
TQELHQRDITIASTKGSSSDMEKRLRAEMQKAEDKAVEHKEILDQLESLKLENRHLSEMV
MKLELGLHEAKEISLADLQENYIEALNKLVSENQQLQKDLMNTKSQLEISTQMCKKQNDR
IFKPTHSRTTEFKNTEFKPTHGQHRHDGIKTEHYKTDLHSPRGQASDSINPMSRVLSPLS
PQISPCSSTRSLTSYSLCKTHSLPSALDTNEANFSDTMSESMNDQEEFISSCSLPVSPLG
SIATRFLEEEELRSHHILERLDAHIEELKRESEKTVRQFTALK

Sequence length

703

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Papillary renal cell carcinoma type 1	Likely pathogenic	rs150764448	RCV005925633	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seckel syndrome 6	Likely pathogenic; Pathogenic	rs753579827, rs2109591981, rs746387482, rs2547181177, rs2546848928, rs1164567042, rs773725359	RCV001449971 RCV001449972 RCV000490311 RCV003129590 RCV003332017 RCV000029178 RCV001255746 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP63-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental dyslexia	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECKEL SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	21983783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	21983783, 26297806, 34068194	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Microcephaly	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental reading disorder	Developmental dyslexia	BEFREE	26400686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	GENOMICS_ENGLAND_DG	26400686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	26400686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	15284851, 15793586, 16829198, 19344873, 19348700, 19829375, 19854944, 20598275, 21406398, 21983783, 22775483, 23936128, 25348405, 26158450, 26400686		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21406398		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	CTD_human_DG	21983783		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	21983783, 26297806, 34068194	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	26158450		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	CTD_human_DG	21983783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	26158450		★★★★★ ★☆☆☆☆ Found in Text Mining only
SECKEL SYNDROME 6	Seckel Syndrome	CLINVAR_DG	21983783		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SECKEL SYNDROME 6	Seckel Syndrome	GENOMICS_ENGLAND_DG	21983783, 26158450, 26400686		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe Congenital Microcephaly	Congenital Microcephaly	CTD_human_DG	21983783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CEP63 (centrosomal protein 63)