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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6491
Gene name	STIL centriolar assembly protein
Gene symbol	STIL
Synonyms (NCBI Gene)	MCPH7SIL
Chromosome	1
Chromosome location	1p33
Summary	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The prot

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs75426387	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs113337758	G>A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs121918609	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs139912214	C>G	Likely-pathogenic, likely-benign, benign-likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs144746030	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs148193936	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic downstream transcript variant
rs149296029	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, non coding transcript variant
rs188900275	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs199422206	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs199422207	C>-	Pathogenic	3 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs200532713	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs367887740	T>A,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs369348360	C>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398122976	A>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs587784452	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs767408811	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs863225464	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs888258532	G>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064796510	T>C	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant
rs1553180057	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1570108068	GC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024832	hsa-miR-215-5p	Microarray	19074876
MIRT026496	hsa-miR-192-5p	Microarray	19074876
MIRT029440	hsa-miR-26b-5p	Microarray	19088304
MIRT051025	hsa-miR-17-5p	CLASH	23622248
MIRT050600	hsa-miR-20a-5p	CLASH	23622248
MIRT671837	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT671836	hsa-miR-4779	HITS-CLIP	23824327
MIRT671835	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671834	hsa-miR-5693	HITS-CLIP	23824327
MIRT671833	hsa-miR-4486	HITS-CLIP	23824327
MIRT671832	hsa-miR-4284	HITS-CLIP	23824327
MIRT671831	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671830	hsa-miR-3178	HITS-CLIP	23824327
MIRT671829	hsa-miR-4266	HITS-CLIP	23824327
MIRT671828	hsa-miR-7977	HITS-CLIP	23824327
MIRT671827	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT671837	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT671836	hsa-miR-4779	HITS-CLIP	23824327
MIRT671835	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671834	hsa-miR-5693	HITS-CLIP	23824327
MIRT671833	hsa-miR-4486	HITS-CLIP	23824327
MIRT671832	hsa-miR-4284	HITS-CLIP	23824327
MIRT671831	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671830	hsa-miR-3178	HITS-CLIP	23824327
MIRT671829	hsa-miR-4266	HITS-CLIP	23824327
MIRT671828	hsa-miR-7977	HITS-CLIP	23824327
MIRT671827	hsa-miR-651-5p	HITS-CLIP	23824327
MIRT1396974	hsa-miR-1207-5p	CLIP-seq
MIRT1396975	hsa-miR-1266	CLIP-seq
MIRT1396976	hsa-miR-1323	CLIP-seq
MIRT1396977	hsa-miR-3119	CLIP-seq
MIRT1396978	hsa-miR-3127-5p	CLIP-seq
MIRT1396979	hsa-miR-3158-3p	CLIP-seq
MIRT1396980	hsa-miR-335	CLIP-seq
MIRT1396981	hsa-miR-3613-3p	CLIP-seq
MIRT1396982	hsa-miR-3622a-3p	CLIP-seq
MIRT1396983	hsa-miR-3622b-3p	CLIP-seq
MIRT1396984	hsa-miR-3664-3p	CLIP-seq
MIRT1396985	hsa-miR-3672	CLIP-seq
MIRT1396986	hsa-miR-371-5p	CLIP-seq
MIRT1396987	hsa-miR-371b-5p	CLIP-seq
MIRT1396988	hsa-miR-3918	CLIP-seq
MIRT1396989	hsa-miR-4270	CLIP-seq
MIRT1396990	hsa-miR-4276	CLIP-seq
MIRT1396991	hsa-miR-4293	CLIP-seq
MIRT1396992	hsa-miR-4424	CLIP-seq
MIRT1396993	hsa-miR-4434	CLIP-seq
MIRT1396994	hsa-miR-4436b-3p	CLIP-seq
MIRT1396995	hsa-miR-4441	CLIP-seq
MIRT1396996	hsa-miR-4504	CLIP-seq
MIRT1396997	hsa-miR-4516	CLIP-seq
MIRT1396998	hsa-miR-4518	CLIP-seq
MIRT1396999	hsa-miR-4531	CLIP-seq
MIRT1397000	hsa-miR-4653-3p	CLIP-seq
MIRT1397001	hsa-miR-4695-3p	CLIP-seq
MIRT1397002	hsa-miR-4699-5p	CLIP-seq
MIRT1397003	hsa-miR-4709-3p	CLIP-seq
MIRT1397004	hsa-miR-4763-3p	CLIP-seq
MIRT1397005	hsa-miR-4767	CLIP-seq
MIRT1397006	hsa-miR-4786-5p	CLIP-seq
MIRT1397007	hsa-miR-4802-3p	CLIP-seq
MIRT1397008	hsa-miR-542-3p	CLIP-seq
MIRT1397009	hsa-miR-544b	CLIP-seq
MIRT1397010	hsa-miR-548m	CLIP-seq
MIRT1397011	hsa-miR-548o	CLIP-seq
MIRT1397012	hsa-miR-548p	CLIP-seq
MIRT1397013	hsa-miR-653	CLIP-seq
MIRT1397014	hsa-miR-769-5p	CLIP-seq
MIRT1396974	hsa-miR-1207-5p	CLIP-seq
MIRT1397015	hsa-miR-1245	CLIP-seq
MIRT1396975	hsa-miR-1266	CLIP-seq
MIRT1397016	hsa-miR-1827	CLIP-seq
MIRT1397017	hsa-miR-2467-3p	CLIP-seq
MIRT1396977	hsa-miR-3119	CLIP-seq
MIRT1396978	hsa-miR-3127-5p	CLIP-seq
MIRT1396979	hsa-miR-3158-3p	CLIP-seq
MIRT1397018	hsa-miR-3200-5p	CLIP-seq
MIRT1397019	hsa-miR-3612	CLIP-seq
MIRT1396982	hsa-miR-3622a-3p	CLIP-seq
MIRT1396983	hsa-miR-3622b-3p	CLIP-seq
MIRT1396984	hsa-miR-3664-3p	CLIP-seq
MIRT1396988	hsa-miR-3918	CLIP-seq
MIRT1397020	hsa-miR-4251	CLIP-seq
MIRT1397021	hsa-miR-4257	CLIP-seq
MIRT1396989	hsa-miR-4270	CLIP-seq
MIRT1397022	hsa-miR-4329	CLIP-seq
MIRT1396992	hsa-miR-4424	CLIP-seq
MIRT1396994	hsa-miR-4436b-3p	CLIP-seq
MIRT1396995	hsa-miR-4441	CLIP-seq
MIRT1396998	hsa-miR-4518	CLIP-seq
MIRT1397000	hsa-miR-4653-3p	CLIP-seq
MIRT1397001	hsa-miR-4695-3p	CLIP-seq
MIRT1397004	hsa-miR-4763-3p	CLIP-seq
MIRT1397005	hsa-miR-4767	CLIP-seq
MIRT1397009	hsa-miR-544b	CLIP-seq
MIRT1397010	hsa-miR-548m	CLIP-seq
MIRT1397023	hsa-miR-650	CLIP-seq
MIRT1397024	hsa-miR-651	CLIP-seq
MIRT1396974	hsa-miR-1207-5p	CLIP-seq
MIRT1396989	hsa-miR-4270	CLIP-seq
MIRT1396992	hsa-miR-4424	CLIP-seq
MIRT1396994	hsa-miR-4436b-3p	CLIP-seq
MIRT1396995	hsa-miR-4441	CLIP-seq
MIRT1397000	hsa-miR-4653-3p	CLIP-seq
MIRT1397004	hsa-miR-4763-3p	CLIP-seq
MIRT1396974	hsa-miR-1207-5p	CLIP-seq
MIRT1396989	hsa-miR-4270	CLIP-seq
MIRT1396992	hsa-miR-4424	CLIP-seq
MIRT1396994	hsa-miR-4436b-3p	CLIP-seq
MIRT1396995	hsa-miR-4441	CLIP-seq
MIRT1397000	hsa-miR-4653-3p	CLIP-seq
MIRT1397004	hsa-miR-4763-3p	CLIP-seq
MIRT2118865	hsa-miR-24	CLIP-seq
MIRT1396982	hsa-miR-3622a-3p	CLIP-seq
MIRT1396983	hsa-miR-3622b-3p	CLIP-seq
MIRT1396985	hsa-miR-3672	CLIP-seq
MIRT1396991	hsa-miR-4293	CLIP-seq
MIRT2118866	hsa-miR-4459	CLIP-seq
MIRT2118867	hsa-miR-4646-5p	CLIP-seq
MIRT2118868	hsa-miR-4747-5p	CLIP-seq
MIRT1397006	hsa-miR-4786-5p	CLIP-seq
MIRT1397009	hsa-miR-544b	CLIP-seq
MIRT2118869	hsa-miR-619	CLIP-seq
MIRT1397024	hsa-miR-651	CLIP-seq
MIRT1397014	hsa-miR-769-5p	CLIP-seq
MIRT1396974	hsa-miR-1207-5p	CLIP-seq
MIRT2341211	hsa-miR-25	CLIP-seq
MIRT2341212	hsa-miR-32	CLIP-seq
MIRT1396980	hsa-miR-335	CLIP-seq
MIRT1396982	hsa-miR-3622a-3p	CLIP-seq
MIRT1396983	hsa-miR-3622b-3p	CLIP-seq
MIRT2341213	hsa-miR-363	CLIP-seq
MIRT2341214	hsa-miR-367	CLIP-seq
MIRT1396985	hsa-miR-3672	CLIP-seq
MIRT2341215	hsa-miR-378g	CLIP-seq
MIRT1396989	hsa-miR-4270	CLIP-seq
MIRT1396991	hsa-miR-4293	CLIP-seq
MIRT2341216	hsa-miR-4325	CLIP-seq
MIRT1396992	hsa-miR-4424	CLIP-seq
MIRT1396994	hsa-miR-4436b-3p	CLIP-seq
MIRT1396995	hsa-miR-4441	CLIP-seq
MIRT1397000	hsa-miR-4653-3p	CLIP-seq
MIRT1397004	hsa-miR-4763-3p	CLIP-seq
MIRT2341217	hsa-miR-4769-3p	CLIP-seq
MIRT1397006	hsa-miR-4786-5p	CLIP-seq
MIRT2341218	hsa-miR-508-5p	CLIP-seq
MIRT1397009	hsa-miR-544b	CLIP-seq
MIRT2341219	hsa-miR-661	CLIP-seq
MIRT2341220	hsa-miR-766	CLIP-seq
MIRT1397014	hsa-miR-769-5p	CLIP-seq
MIRT2341221	hsa-miR-92a	CLIP-seq
MIRT2341222	hsa-miR-92b	CLIP-seq
MIRT1397005	hsa-miR-4767	CLIP-seq
MIRT2635087	hsa-miR-101	CLIP-seq
MIRT1396976	hsa-miR-1323	CLIP-seq
MIRT2635088	hsa-miR-144	CLIP-seq
MIRT2341211	hsa-miR-25	CLIP-seq
MIRT2341212	hsa-miR-32	CLIP-seq
MIRT1396980	hsa-miR-335	CLIP-seq
MIRT1396981	hsa-miR-3613-3p	CLIP-seq
MIRT2341213	hsa-miR-363	CLIP-seq
MIRT2341214	hsa-miR-367	CLIP-seq
MIRT1396986	hsa-miR-371-5p	CLIP-seq
MIRT1396987	hsa-miR-371b-5p	CLIP-seq
MIRT2341215	hsa-miR-378g	CLIP-seq
MIRT2341216	hsa-miR-4325	CLIP-seq
MIRT2118866	hsa-miR-4459	CLIP-seq
MIRT2118867	hsa-miR-4646-5p	CLIP-seq
MIRT2635089	hsa-miR-4684-5p	CLIP-seq
MIRT2118868	hsa-miR-4747-5p	CLIP-seq
MIRT1397005	hsa-miR-4767	CLIP-seq
MIRT2341218	hsa-miR-508-5p	CLIP-seq
MIRT2635090	hsa-miR-548c-3p	CLIP-seq
MIRT2635091	hsa-miR-548k	CLIP-seq
MIRT2635092	hsa-miR-548n	CLIP-seq
MIRT1397011	hsa-miR-548o	CLIP-seq
MIRT1397012	hsa-miR-548p	CLIP-seq
MIRT2118869	hsa-miR-619	CLIP-seq
MIRT1397024	hsa-miR-651	CLIP-seq
MIRT2341219	hsa-miR-661	CLIP-seq
MIRT2635093	hsa-miR-665	CLIP-seq
MIRT2341220	hsa-miR-766	CLIP-seq
MIRT2341221	hsa-miR-92a	CLIP-seq
MIRT2341222	hsa-miR-92b	CLIP-seq
MIRT1396976	hsa-miR-1323	CLIP-seq
MIRT1396980	hsa-miR-335	CLIP-seq
MIRT1396981	hsa-miR-3613-3p	CLIP-seq
MIRT1396986	hsa-miR-371-5p	CLIP-seq
MIRT1396987	hsa-miR-371b-5p	CLIP-seq
MIRT2118867	hsa-miR-4646-5p	CLIP-seq
MIRT2635089	hsa-miR-4684-5p	CLIP-seq
MIRT2118868	hsa-miR-4747-5p	CLIP-seq
MIRT1397005	hsa-miR-4767	CLIP-seq
MIRT2635090	hsa-miR-548c-3p	CLIP-seq
MIRT1397011	hsa-miR-548o	CLIP-seq
MIRT1397012	hsa-miR-548p	CLIP-seq
MIRT2118869	hsa-miR-619	CLIP-seq
MIRT1397024	hsa-miR-651	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000578	Process	Embryonic axis specification	ISS
GO:0001701	Process	In utero embryonic development	ISS
GO:0001843	Process	Neural tube closure	ISS
GO:0001947	Process	Heart looping	ISS
GO:0005515	Function	Protein binding	IPI	22020124, 24076405, 25385835, 26188084, 26638075, 29712910
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	22020124, 22349705
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614, 22349705
GO:0005814	Component	Centriole	IDA	22020124, 22349705, 25385835
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	IMP	22349705
GO:0007224	Process	Smoothened signaling pathway	IBA
GO:0007224	Process	Smoothened signaling pathway	ISS
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0021915	Process	Neural tube development	ISS
GO:0030900	Process	Forebrain development	ISS
GO:0030903	Process	Notochord development	ISS
GO:0031023	Process	Microtubule organizing center organization	IBA
GO:0033504	Process	Floor plate development	ISS
GO:0035264	Process	Multicellular organism growth	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IPI	22020124, 26188084
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0046599	Process	Regulation of centriole replication	IMP	22020124
GO:0046601	Process	Positive regulation of centriole replication	IDA	22020124
GO:0051298	Process	Centrosome duplication	IDA	22349705
GO:0051298	Process	Centrosome duplication	IMP	22349705
GO:0060236	Process	Regulation of mitotic spindle organization	NAS	17576815
GO:0071539	Process	Protein localization to centrosome	IBA
GO:0071539	Process	Protein localization to centrosome	IMP	22349705
GO:0120099	Component	Procentriole replication complex	IPI	22020124
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IDA	22020124
GO:1905832	Process	Positive regulation of spindle assembly	NAS	17576815

MIM	HGNC	e!Ensembl
181590	10879	ENSG00000123473

Q15468

Protein name

SCL-interrupting locus protein (TAL-1-interrupting locus protein)

Protein function

Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with

PDB

4YYP , 5LHW , 5LHZ , 8OYK , 8OYL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15253	STIL_N	33 → 435	SCL-interrupting locus protein N-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all hematopoietic tissues and cell lines. Highly expressed in a variety of tumors characterized by increased mitotic activity with highest expression in lung cancer. {ECO:0000269|PubMed:15107824, ECO:0000269|PubMed:1922059

Sequence

MEPIYPFARPQMNTRFPSSRMVPFHFPPSKCALWNPTPTGDFIYLHLSYYRNPKLVVTEK
TIRLAYRHAKQNKKNSSCFLLGSLTADEDEEGVTLTVDRFDPGREVPECLEITPTASLPG
DFLIPCKVHTQELCSREMIVHSVDDFSSALKALQCHICSKDSLDCGKLLSLRVHITSRES
LDSVEFDLHWAAVTLANNFKCTPVKPIPIIPTALARNLSSNLNISQVQGTYKYGYLTMDE
TRKLLLLLESDPKVYSLPLVGIWLSGITHIYSPQVWACCLRYIFNSSVQERVFSESGNFI
IVLYSMTHKEPEFYECFPCDGKIPDFRFQLLTSKETLHLFKNVEPPDKNPIRCELSAESQ
NAETEFFSKASKNFSIKRSSQKLSSGKMPIHDHDSGVEDEDFSPRPIPSPHPVSQKISKI
QPSVPELSLVLDGNFIESNPLPTPLEMVNNENPPLINHLEHLKPLQPQLYDEKHSPEVEA
GEPSLRGIPNQLNQDKPALLRHCKVRQPPAYKKGNPHTRNSIKPSSHNGPSHDIFEKLQT
VSAGNVQNEEYPIRPSTLNSRQSSLAPQSQPHDFVFSPHNSGRPMELQIPTPPLPSYCST
NVCRCCQHHSHIQYSPLNSWQGANTVGSIQDVQSEALQKHSLFHPSGCPALYCNAFCSSS
SPIALRPQGDMGSCSPHSNIEPSPVARPPSHMDLCNPQPCTVCMHTPKTESDNGMMGLSP
DAYRFLTEQDRQLRLLQAQIQRLLEAQSLMPCSPKTTAVEDTVQAGRQMELVSVEAQSSP
GLHMRKGVSIAVSTGASLFWNAAGEDQEPDSQMKQDDTKISSEDMNFSVDINNEVTSLPG
SASSLKAVDIPSFEESNIAVEEEFNQPLSVSNSSLVVRKEPDVPVFFPSGQLAESVSMCL
QTGPTGGASNNSETSEEPKIEHVMQPLLHQPSDNQKIYQDLLGQVNHLLNSSSKETEQPS
TKAVIISHECTRTQNVYHTKKKTHHSRLVDKDCVLNATLKQLRSLGVKIDSPTKVKKNAH
NVDHASVLACISPEAVISGLNCMSFANVGMSGLSPNGVDLSMEANAIALKYLNENQLSQL
SVTRSNQNNCDPFSLLHINTDRSTVGLSLISPNNMSFATKKYMKRYGLLQSSDNSEDEEE
PPDNADSKSEYLLNQNLRSIPEQLGGQKEPSKNDHEIINCSNCESVGTNADTPVLRNITN
EVLQTKAKQQLTEKPAFLVKNLKPSPAVNLRTGKAEFTQHPEKENEGDITIFPESLQPSE
TLKQMNSMNSVGTFLDVKRLRQLPKLF

Sequence length

1287

Interactions

View interactions

165

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs369348360	RCV000454244
Microcephaly 7, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs2149046665, rs2149199098, rs587784452, rs2523341350, rs863225464, rs2521954674, rs121918609, rs199422207, rs199422206, rs1644859651, rs398122976	RCV002226927 RCV002238588 RCV000147700 RCV002284013 RCV000202415 RCV003131667 RCV000013813 RCV000013814 RCV000013815 RCV001263537 RCV000077751
Myoepithelial tumor	Pathogenic	rs2524016367	RCV002463901
Neutrophil inclusion bodies	Likely pathogenic	rs757631449	RCV002292658
STIL-related disorder	Likely pathogenic	rs755837661	RCV003397478

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs12239246	RCV005922340
Cervical cancer	Benign	rs12239246	RCV005922341
Familial pancreatic carcinoma	Benign	rs12239246	RCV005922342
Gastric cancer	Uncertain significance	rs369825711	RCV005888245
Hepatocellular carcinoma	Likely benign	rs765585891	RCV005926299
Intellectual disability	Uncertain significance	rs369376550	RCV001260854
Lung cancer	Benign	rs12239246	RCV005922345
Malignant tumor of esophagus	Uncertain significance	rs566017243	RCV005932463
Ovarian serous cystadenocarcinoma	Benign	rs3122606	RCV005924442
Primary Microcephaly, Recessive	Uncertain significance; Benign	rs777971224, rs75930208, rs761410037	RCV000386303 RCV000312243 RCV000320101
Sarcoma	Benign	rs12239246	RCV005922343
Thymoma	Likely benign; Benign	rs2821092, rs3122606	RCV005917860 RCV005924443
Uterine carcinosarcoma	Benign	rs12239246	RCV005922344

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Islet Cell	Associate	30575306
Adrenocortical Carcinoma	Associate	22496620
Ataxia Telangiectasia	Associate	22581002
Autosomal Recessive Primary Microcephaly	Associate	19215732, 24485834, 32677750
Carcinogenesis	Associate	22496620
Carcinoma Non Small Cell Lung	Associate	30832674
Chromosome Duplication	Associate	29445034, 31197030
Colorectal Neoplasms	Inhibit	33958846
Leukemia	Associate	1311214
Leukemia T Cell	Associate	11390401, 16024801
Microcephaly	Associate	19215732, 24052813, 24485834, 24556440, 28811500, 31197030, 32677750
Neoplasm Metastasis	Associate	23202429, 35365182
Neoplasms	Associate	23202429, 38191387
Neoplasms	Stimulate	35365182
POEMS Syndrome	Associate	22994759
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	17901244, 35963521
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12199779, 1311214, 19055661, 20065082, 22225590, 35963521, 9432040, 9695959
Urologic Neoplasms	Associate	33489471

STIL (STIL centriolar assembly protein)