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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal brain morphology	Likely pathogenic	rs369348360	RCV000454244	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly 7, primary, autosomal recessive	Likely pathogenic; Pathogenic	rs2149046665, rs2149199098, rs587784452, rs2523341350, rs863225464, rs2521954674, rs121918609, rs199422207, rs199422206, rs1644859651, rs398122976	RCV002226927 RCV002238588 RCV000147700 RCV002284013 RCV000202415 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoepithelial tumor	Pathogenic	rs2524016367	RCV002463901	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neutrophil inclusion bodies	Likely pathogenic	rs757631449	RCV002292658	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STIL-related disorder	Likely pathogenic	rs755837661	RCV003397478	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (24)

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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet CTD, ClinGen, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOLOPROSENCEPHALY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LOBAR HOLOPROSENCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Microcephaly, Recessive	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMI-LOBAR HOLOPROSENCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEMILOBAR HOLOPROSENCEPHALY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEPTOPREOPTIC HOLOPROSENCEPHALY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (75)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	29968961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15878620, 26264145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	11390401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22496620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15878620, 26264145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22581002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	19215732, 24485834, 32677750	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	19778709, 21857152, 24148351, 24485834		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Primary Microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★★☆☆☆ 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
Carcinogenesis	Carcinogenesis	Pubtator	22496620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	23319113, 25782708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28423708		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20537184, 25461847, 31067838		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	29112019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17549406, 17709267, 20537184, 25461847, 31067838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15878620, 26264145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	8547132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33958846	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	BEFREE	24040098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30391466		★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	25218063, 25658757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	LHGDN	19215732		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	27477083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	12601763, 25384883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1311214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24040098, 29556024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	19778709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lobar Holoprosencephaly	Lobar Holoprosencephaly	BEFREE	25218063		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	8547132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8547132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	8547132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28423708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30453068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31187582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1387813, 14504110, 17456584, 22334400, 29352115, 31187582, 31754215, 8640718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20537184, 25461847, 31067838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	LHGDN	19215732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	19215732, 24052813, 24485834, 24556440, 28811500, 31197030, 32677750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24485834, 24986681, 25218063, 25486474, 25658757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly, Primary Autosomal Recessive, 6	Microcephaly	BEFREE	20978018		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	UNIPROT_DG	19215732, 22989186		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	GENOMICS_ENGLAND_DG	19215732, 25218063		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	BEFREE	20978018		★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)	Microcephaly	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	31607137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15878620, 17456584, 25782708, 30453068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28736882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28423708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	18829525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	18829525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	9171354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	12199779, 12531481, 1311214, 14961040, 15637138, 17039236, 19055661, 19562638, 24040098, 24200685, 28736882, 29968961, 7773964, 8350619, 8630377, 9171354, 9695959 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	19215732, 22020124, 24076405, 24951839, 29352115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	25218063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30453068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	23600532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25614457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31187582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumor Lysis Syndrome	Tumor Lysis Syndrome	BEFREE	24040098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unilateral agenesis of kidney	Renal aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urologic Neoplasms	Urologic neoplasm	Pubtator	33489471	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

STIL (STIL centriolar assembly protein)