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	4750
Gene name	NIMA related kinase 1
Gene symbol	NEK1
Synonyms (NCBI Gene)	ALS24NY-REN-55OFD2SRPS2SRPS2ASRTD6
Chromosome	4
Chromosome location	4q33
Summary	The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs10034957	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs34324114	A>C	Likely-pathogenic, benign, likely-benign	Downstream transcript variant, coding sequence variant, intron variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs56077602	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs189186475	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant
rs199947197	G>C	Pathogenic, risk-factor, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs200161705	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, likely-benign, benign	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs371575563	G>A,C	Risk-factor	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs377607698	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs387906890	G>A,C	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs431905508	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs483352906	T>C	Pathogenic	Splice acceptor variant, intron variant
rs483352907	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs749428135	T>A	Risk-factor	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs752878896	TGTT>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs756830252	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant
rs758677637	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs772747361	C>A,T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, missense variant
rs773496891	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs775849720	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs776098853	A>T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs786205645	TA>-	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs794727032	C>A	Pathogenic	Intron variant, splice acceptor variant
rs794727285	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs985064686	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, 5 prime UTR variant
rs1049502301	C>T	Other, pathogenic	Splice donor variant, genic upstream transcript variant
rs1131690775	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1157065841	T>C,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs1301705612	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs1362848762	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1554020563	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1554053289	CC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1554075284	GTTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, intron variant, frameshift variant
rs1554075506	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, missense variant

140

Show/Hide all (140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026517	hsa-miR-192-5p	Microarray	19074876
MIRT030894	hsa-miR-21-5p	Microarray	18591254
MIRT042284	hsa-miR-484	CLASH	23622248
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT643489	hsa-miR-6507-3p	HITS-CLIP	23824327
MIRT643488	hsa-miR-302a-5p	HITS-CLIP	23824327
MIRT1180087	hsa-miR-1260	CLIP-seq
MIRT1180088	hsa-miR-1260b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT1180090	hsa-miR-188-3p	CLIP-seq
MIRT1180091	hsa-miR-3156-3p	CLIP-seq
MIRT1180092	hsa-miR-4301	CLIP-seq
MIRT1180093	hsa-miR-4718	CLIP-seq
MIRT1180094	hsa-miR-4742-3p	CLIP-seq
MIRT1180095	hsa-miR-136	CLIP-seq
MIRT1180096	hsa-miR-421	CLIP-seq
MIRT1180097	hsa-miR-4446-5p	CLIP-seq
MIRT1180098	hsa-miR-4470	CLIP-seq
MIRT1180099	hsa-miR-4709-5p	CLIP-seq
MIRT1180100	hsa-miR-4742-5p	CLIP-seq
MIRT1180101	hsa-miR-4755-5p	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2281436	hsa-miR-3613-3p	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT2579741	hsa-miR-1255a	CLIP-seq
MIRT2579742	hsa-miR-1255b	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2579744	hsa-miR-142-5p	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2579751	hsa-miR-337-3p	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579752	hsa-miR-3685	CLIP-seq
MIRT2579753	hsa-miR-384	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2579756	hsa-miR-4314	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579758	hsa-miR-4670-3p	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2579765	hsa-miR-548a-5p	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579766	hsa-miR-548ab	CLIP-seq
MIRT2579767	hsa-miR-548ac	CLIP-seq
MIRT2281437	hsa-miR-548ae	CLIP-seq
MIRT2281438	hsa-miR-548aj	CLIP-seq
MIRT2579768	hsa-miR-548ak	CLIP-seq
MIRT2281439	hsa-miR-548am	CLIP-seq
MIRT2579769	hsa-miR-548b-5p	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2579771	hsa-miR-548c-5p	CLIP-seq
MIRT2579772	hsa-miR-548d-3p	CLIP-seq
MIRT2579773	hsa-miR-548d-5p	CLIP-seq
MIRT2579774	hsa-miR-548h	CLIP-seq
MIRT2579775	hsa-miR-548i	CLIP-seq
MIRT2579776	hsa-miR-548j	CLIP-seq
MIRT2579777	hsa-miR-548k	CLIP-seq
MIRT2579778	hsa-miR-548l	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579779	hsa-miR-548w	CLIP-seq
MIRT2281440	hsa-miR-548x	CLIP-seq
MIRT2579780	hsa-miR-548y	CLIP-seq
MIRT2579781	hsa-miR-548z	CLIP-seq
MIRT2579782	hsa-miR-559	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579784	hsa-miR-659	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2579788	hsa-miR-9	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq
MIRT2579740	hsa-miR-1238	CLIP-seq
MIRT1180089	hsa-miR-127-5p	CLIP-seq
MIRT2579743	hsa-miR-128	CLIP-seq
MIRT2052120	hsa-miR-1323	CLIP-seq
MIRT2052121	hsa-miR-153	CLIP-seq
MIRT2579745	hsa-miR-21	CLIP-seq
MIRT2579746	hsa-miR-224	CLIP-seq
MIRT2579747	hsa-miR-2355-3p	CLIP-seq
MIRT2052122	hsa-miR-25	CLIP-seq
MIRT2579748	hsa-miR-27a	CLIP-seq
MIRT2579749	hsa-miR-27b	CLIP-seq
MIRT2579750	hsa-miR-3143	CLIP-seq
MIRT2052123	hsa-miR-32	CLIP-seq
MIRT2052124	hsa-miR-363	CLIP-seq
MIRT2052125	hsa-miR-367	CLIP-seq
MIRT2579754	hsa-miR-3924	CLIP-seq
MIRT2579755	hsa-miR-3973	CLIP-seq
MIRT2052126	hsa-miR-448	CLIP-seq
MIRT2579757	hsa-miR-4635	CLIP-seq
MIRT2579759	hsa-miR-4691-5p	CLIP-seq
MIRT2579760	hsa-miR-4698	CLIP-seq
MIRT2579761	hsa-miR-4738-3p	CLIP-seq
MIRT2579762	hsa-miR-4802-5p	CLIP-seq
MIRT2579763	hsa-miR-520g	CLIP-seq
MIRT2579764	hsa-miR-520h	CLIP-seq
MIRT2052127	hsa-miR-548aa	CLIP-seq
MIRT2579770	hsa-miR-548c-3p	CLIP-seq
MIRT2052128	hsa-miR-548o	CLIP-seq
MIRT2579783	hsa-miR-590-5p	CLIP-seq
MIRT2579785	hsa-miR-676	CLIP-seq
MIRT2579786	hsa-miR-765	CLIP-seq
MIRT2579787	hsa-miR-888	CLIP-seq
MIRT2052129	hsa-miR-92a	CLIP-seq
MIRT2052130	hsa-miR-92b	CLIP-seq
MIRT2579789	hsa-miR-944	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000242	Component	Pericentriolar material	IDA	21211617
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IDA	15604234
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	14690447, 24510904, 24947832, 26167768, 26290490, 28514442, 33961781, 35271311, 36931259
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	15604234
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15604234
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	IDA	19158487
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	IMP	19158487
GO:0016740	Function	Transferase activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IMP	21211617
GO:0071889	Function	14-3-3 protein binding	ISS
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
604588	7744	ENSG00000137601

Q96PY6

Protein name

Serine/threonine-protein kinase Nek1 (EC 2.7.11.1) (Never in mitosis A-related kinase 1) (NimA-related protein kinase 1) (Renal carcinoma antigen NY-REN-55)

Protein function

Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity (PubMed:20230784). Involved in DNA damage checkpoint control and for proper DNA damage repair (PubMed:20230784). In response to injury that includes DNA

PDB

4APC , 4B9D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	4 → 258	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: High fetal expression in the brain and kidney. {ECO:0000269|PubMed:21211617}.

Sequence

MEKYVRLQKIGEGSFGKAILVKSTEDGRQYVIKEINISRMSSKEREESRREVAVLANMKH
PNIVQYRESFEENGSLYIVMDYCEGGDLFKRINAQKGVLFQEDQILDWFVQICLALKHVH
DRKILHRDIKSQNIFLTKDGTVQLGDFGIARVLNSTVELARTCIGTPYYLSPEICENKPY
NNKSDIWALGCVLYELCTLKHAFEAGSMKNLVLKIISGSFPPVSLHYSYDLRSLVSQLFK
RNPRDRPSVNSILEKGFIAKRIEKFLSPQLIAEEFCLKTFSKFGSQPIPAKRPASGQNSI
SVMPAQKITKPAAKYGIPLAYKKYGDKKLHEKKPLQKHKQAHQTPEKRVNTGEERRKISE
EAARKRRLEFIEKEKKQKDQIISLMKAEQMKRQEKERLERINRAREQGWRNVLSAGGSGE
VKAPFLGSGGTIAPSSFSSRGQYEHYHAIFDQMQQQRAEDNEAKWKREIYGRGLPERGIL
PGVRPGFPYGAAGHHHFPDADDIRKTLKRLKAVSKQANANRQKGQLAVERAKQVEEFLQR
KREAMQNKARAEGHMVYLARLRQIRLQNFNERQQIKAKLRGEKKEANHSEGQEGSEEADM
RRKKIESLKAHANARAAVLKEQLERKRKEAYEREKKVWEEHLVAKGVKSSDVSPPLGQHE
TGGSPSKQQMRSVISVTSALKEVGVDSSLTDTRETSEEMQKTNNAISSKREILRRLNENL
KAQEDEKGKQNLSDTFEINVHEDAKEHEKEKSVSSDRKKWEAGGQLVIPLDELTLDTSFS
TTERHTVGEVIKLGPNGSPRRAWGKSPTDSVLKILGEAELQLQTELLENTTIRSEISPEG
EKYKPLITGEKKVQCISHEINPSAIVDSPVETKSPEFSEASPQMSLKLEGNLEEPDDLET
EILQEPSGTNKDESLPCTITDVWISEEKETKETQSADRITIQENEVSEDGVSSTVDQLSD
IHIEPGTNDSQHSKCDVDKSVQPEPFFHKVVHSEHLNLVPQVQSVQCSPEESFAFRSHSH
LPPKNKNKNSLLIGLSTGLFDANNPKMLRTCSLPDLSKLFRTLMDVPTVGDVRQDNLEID
EIEDENIKEGPSDSEDIVFEETDTDLQELQASMEQLLREQPGEEYSEEEESVLKNSDVEP
TANGTDVADEDDNPSSESALNEEWHSDNSDGEIASECECDSVFNHLEELRLHLEQEMGFE
KFFEVYEKIKAIHEDEDENIEICSKIVQNILGNEHQHLYAKILHLVMADGAYQEDNDE

Sequence length

1258

Interactions

View interactions

807

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis, susceptibility to, 24	Pathogenic; Likely pathogenic	rs773156346, rs201769828, rs199947197, rs2546764617, rs750159428, rs2546553407, rs969452649, rs371575563, rs1744312712	RCV003147682 RCV002497931 RCV000585742 RCV003334442 RCV003444228 RCV003885442 RCV004577991 RCV000585741 RCV001283787
Asphyxiating thoracic dystrophy 3	Pathogenic; Likely pathogenic	rs786205645, rs483352907	RCV000256463 RCV000023383
Connective tissue disorder	Pathogenic	rs1049502301	RCV002278254
Mohr syndrome	Pathogenic; Likely pathogenic	rs2546929612, rs985064686	RCV003881706 RCV003766906
Motor neuron disease	Pathogenic; Likely pathogenic	rs202115635, rs1131690775, rs1049502301	RCV000492640 RCV000492184 RCV000492619
NEK1-related disorder	Likely pathogenic; Pathogenic	rs199947197, rs202115635, rs1049502301, rs760894879, rs1469219144, rs936818837, rs1736367074, rs387906890, rs483352907, rs758677637, rs1276960586	RCV003947589 RCV003947821 RCV003955418 RCV003399463 RCV003983419 RCV003904423 RCV003954704 RCV004742231 RCV004742232 RCV004742475 RCV004742036
Short rib-polydactyly syndrome	Likely pathogenic; Pathogenic	rs368940355	RCV004017941
Short-rib thoracic dysplasia 6 with or without polydactyly	Pathogenic; Likely pathogenic	rs2149558070, rs773156346, rs2111032650, rs2150139071, rs1482234746, rs2111354717, rs2150034070, rs201769828, rs763310804, rs2149690411, rs2150079083, rs2111335168, rs2111007067, rs1432921892, rs2546929747 View all (42 more)	RCV001784738 RCV001806406 RCV001806415 RCV001822975 RCV001960542 RCV001897902 RCV001970136 RCV001971012 RCV001892336 RCV001930939 RCV001949594 RCV002052124 RCV002225180 RCV002269801 RCV002290318 RCV003988831 RCV000174122 RCV001852159 RCV003106460 RCV002579804 RCV002622532 RCV000190609 RCV003017667 RCV003055481 RCV002521865 RCV000515986 RCV003337747 RCV003523370 RCV003524184 RCV003522196 RCV003522452 RCV003523715 RCV003524473 RCV003523834 RCV003636302 RCV003637082 RCV003837212 RCV003882438 RCV000023381 RCV000023382 RCV000515958 RCV000516122 RCV000515854 RCV000515894 RCV000516096 RCV000515960 RCV000515987 RCV000515859 RCV000033162 RCV001380778 RCV000656514 RCV000656516 RCV001051793 RCV001196960 RCV001215518 RCV004762049 RCV001291528

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17544885	RCV005886530
Amyotrophic lateral sclerosis	Uncertain significance	rs199678116, rs1404362599	RCV001095489 RCV001260207
Asphyxiating thoracic dystrophy 1	Uncertain significance	rs1554020960, rs1561165983	RCV000662209 RCV000785124
Colorectal cancer	Benign	rs17544885	RCV005886531
Familial cancer of breast	Benign; Likely benign	rs199717920	RCV005869345
Gastric cancer	Benign	rs4692733	RCV005902174
Germ cell tumor of testis	Benign	rs17544885	RCV005886536
Hepatocellular carcinoma	Benign	rs10022479	RCV005915925
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	rs992324423	RCV000515992
Lymphoma	Likely benign	rs115624903	RCV005916169
Malignant tumor of esophagus	Benign; Likely benign	rs199717920, rs4692733	RCV005869346 RCV005902172
Melanoma	Benign	rs17544885	RCV005886535
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity; Benign	rs73867833, rs897732893, rs4692733	RCV005917831 RCV005920803 RCV005902175
Sarcoma	Likely benign; Benign; Uncertain significance	rs73867833, rs76012666, rs375956427, rs908699767, rs4692733, rs765591688	RCV005917830 RCV005918178 RCV005920856 RCV005934746 RCV005902173 RCV005913883
Thymoma	Benign	rs17544885, rs4692733	RCV005886533 RCV005902176
Thyroid cancer, nonmedullary, 1	Benign	rs17544885	RCV005886534
Type IV short rib polydactyly syndrome	Conflicting classifications of pathogenicity	rs1301705612	RCV000515887
Uterine carcinosarcoma	Benign	rs17544885	RCV005886532
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs76012666, rs199717920	RCV005918179 RCV005869347
Uveal melanoma	Benign	rs10022479	RCV005915926

Show/Hide Text Mining Associations (31)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	27455347, 28710492, 28935222, 29929116, 30940688, 30976013, 31768050, 32462798, 33709219, 36443167, 37188479, 37328865, 37585529, 37849306
Amyotrophic Lateral Sclerosis	Stimulate	29149916
Amyotrophic lateral sclerosis 1	Associate	27455347
Breast Neoplasms	Associate	27081041
Carcinoma Hepatocellular	Associate	37043475
Carcinoma Non Small Cell Lung	Associate	35105934
Carcinoma Renal Cell	Associate	24970796
Ciliary Motility Disorders	Associate	27530628
Ciliopathies	Associate	21211617, 28017521, 28710492
Cysts	Associate	23255108
Fetal Diseases	Associate	37875969
Genetic Diseases Inborn	Associate	28710492
HEM dysplasia	Associate	32752906
Liver Neoplasms	Associate	35426263, 37043475
Lymphatic Metastasis	Stimulate	31906878
Motor Neuron Disease	Associate	28089114, 37585529
Muscle Weakness	Associate	32462798
Neoplasms	Associate	28710492, 31906878, 31914854
Neurodegenerative Diseases	Associate	37849306
Neuroendocrine Tumors	Associate	34571875
Orofaciodigital Syndromes	Associate	27530628, 28710492
Osteochondrodysplasias	Associate	21211617
Pancreatic Neoplasms	Associate	26546047
Parkinson Disease	Associate	33523105, 37328865
Polycystic Kidney Diseases	Associate	28710492
Prostatic Neoplasms	Associate	31914854
Short Rib Polydactyly Syndrome	Associate	21211617, 22482978, 22795106, 28710492
Short rib polydactyly syndrome Verma Naumoff type	Associate	22795106
Spondylometaphyseal dysplasia axial	Associate	37188479
Thyroid Neoplasms	Associate	31906878
Wilms Tumor	Associate	26317783

NEK1 (NIMA related kinase 1)