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	55605
Gene name	Kinesin family member 21A
Gene symbol	KIF21A
Synonyms (NCBI Gene)	CFEOM1FEOM1FEOM3A
Chromosome	12
Chromosome location	12q12
Summary	This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubul

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912585	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912586	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912587	A>G	Pathogenic	Coding sequence variant, missense variant
rs121912588	A>G	Pathogenic	Coding sequence variant, missense variant
rs121912589	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912590	A>C	Pathogenic	Coding sequence variant, missense variant
rs267607200	C>T	Pathogenic	Missense variant, coding sequence variant
rs864321718	G>A,C	Pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1555167299	A>G	Likely-pathogenic	Missense variant, coding sequence variant

219

Show/Hide all (219)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021669	hsa-miR-140-3p	Sequencing	20371350
MIRT047583	hsa-miR-10a-5p	CLASH	23622248
MIRT047583	hsa-miR-10a-5p	CLASH	23622248
MIRT047583	hsa-miR-10a-5p	CLASH	23622248
MIRT047432	hsa-miR-10b-5p	CLASH	23622248
MIRT045268	hsa-miR-186-5p	CLASH	23622248
MIRT437612	hsa-miR-145-5p	MicroarrayqRT-PCR	22815788
MIRT437660	hsa-miR-195-5p	MicroarrayqRT-PCR	22815788
MIRT571977	hsa-miR-5683	PAR-CLIP	20371350
MIRT021669	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT571976	hsa-miR-208a-5p	PAR-CLIP	20371350
MIRT571975	hsa-miR-208b-5p	PAR-CLIP	20371350
MIRT571974	hsa-miR-7705	PAR-CLIP	20371350
MIRT571973	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT571972	hsa-miR-1224-3p	PAR-CLIP	20371350
MIRT571970	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT571971	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT571969	hsa-miR-1260a	PAR-CLIP	20371350
MIRT571968	hsa-miR-1260b	PAR-CLIP	20371350
MIRT571966	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT571967	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT440372	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440371	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT440372	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440371	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT571977	hsa-miR-5683	PAR-CLIP	20371350
MIRT021669	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT571976	hsa-miR-208a-5p	PAR-CLIP	20371350
MIRT571975	hsa-miR-208b-5p	PAR-CLIP	20371350
MIRT571974	hsa-miR-7705	PAR-CLIP	20371350
MIRT571973	hsa-miR-1245b-3p	PAR-CLIP	20371350
MIRT571972	hsa-miR-1224-3p	PAR-CLIP	20371350
MIRT571970	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT571971	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT571969	hsa-miR-1260a	PAR-CLIP	20371350
MIRT571968	hsa-miR-1260b	PAR-CLIP	20371350
MIRT571966	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT571967	hsa-miR-4446-5p	PAR-CLIP	20371350
MIRT1094022	hsa-miR-105	CLIP-seq
MIRT1094023	hsa-miR-1305	CLIP-seq
MIRT1094024	hsa-miR-3127-5p	CLIP-seq
MIRT1094025	hsa-miR-3144-3p	CLIP-seq
MIRT1094026	hsa-miR-3148	CLIP-seq
MIRT1094027	hsa-miR-338-5p	CLIP-seq
MIRT1094028	hsa-miR-3617	CLIP-seq
MIRT1094029	hsa-miR-3671	CLIP-seq
MIRT1094030	hsa-miR-4668-5p	CLIP-seq
MIRT1094031	hsa-miR-548a-3p	CLIP-seq
MIRT1094032	hsa-miR-548c-3p	CLIP-seq
MIRT1094033	hsa-miR-548e	CLIP-seq
MIRT1094034	hsa-miR-548f	CLIP-seq
MIRT1094035	hsa-miR-607	CLIP-seq
MIRT1094036	hsa-miR-641	CLIP-seq
MIRT1094037	hsa-miR-103a	CLIP-seq
MIRT1094038	hsa-miR-103b	CLIP-seq
MIRT1094039	hsa-miR-107	CLIP-seq
MIRT1094040	hsa-miR-1260	CLIP-seq
MIRT1094041	hsa-miR-1280	CLIP-seq
MIRT1094042	hsa-miR-1284	CLIP-seq
MIRT1094023	hsa-miR-1305	CLIP-seq
MIRT1094043	hsa-miR-1323	CLIP-seq
MIRT1094044	hsa-miR-1324	CLIP-seq
MIRT1094045	hsa-miR-133a	CLIP-seq
MIRT1094046	hsa-miR-133b	CLIP-seq
MIRT1094047	hsa-miR-145	CLIP-seq
MIRT1094048	hsa-miR-15a	CLIP-seq
MIRT1094049	hsa-miR-15b	CLIP-seq
MIRT1094050	hsa-miR-16	CLIP-seq
MIRT1094051	hsa-miR-186	CLIP-seq
MIRT1094052	hsa-miR-195	CLIP-seq
MIRT1094053	hsa-miR-214	CLIP-seq
MIRT1094054	hsa-miR-300	CLIP-seq
MIRT1094055	hsa-miR-3065-5p	CLIP-seq
MIRT1094056	hsa-miR-3121-3p	CLIP-seq
MIRT1094024	hsa-miR-3127-5p	CLIP-seq
MIRT1094057	hsa-miR-3133	CLIP-seq
MIRT1094058	hsa-miR-3135	CLIP-seq
MIRT1094059	hsa-miR-3143	CLIP-seq
MIRT1094026	hsa-miR-3148	CLIP-seq
MIRT1094060	hsa-miR-3152-5p	CLIP-seq
MIRT1094061	hsa-miR-3163	CLIP-seq
MIRT1094062	hsa-miR-3166	CLIP-seq
MIRT1094063	hsa-miR-3180-5p	CLIP-seq
MIRT1094028	hsa-miR-3617	CLIP-seq
MIRT1094064	hsa-miR-3619-5p	CLIP-seq
MIRT1094065	hsa-miR-376c	CLIP-seq
MIRT1094066	hsa-miR-381	CLIP-seq
MIRT1094067	hsa-miR-3942-3p	CLIP-seq
MIRT1094068	hsa-miR-424	CLIP-seq
MIRT1094069	hsa-miR-4269	CLIP-seq
MIRT1094070	hsa-miR-4291	CLIP-seq
MIRT1094071	hsa-miR-4303	CLIP-seq
MIRT1094072	hsa-miR-4436a	CLIP-seq
MIRT1094073	hsa-miR-4438	CLIP-seq
MIRT1094074	hsa-miR-4452	CLIP-seq
MIRT1094075	hsa-miR-4468	CLIP-seq
MIRT1094076	hsa-miR-4474-5p	CLIP-seq
MIRT1094077	hsa-miR-4496	CLIP-seq
MIRT1094078	hsa-miR-4503	CLIP-seq
MIRT1094079	hsa-miR-450b-5p	CLIP-seq
MIRT1094080	hsa-miR-4524	CLIP-seq
MIRT1094081	hsa-miR-4662a-3p	CLIP-seq
MIRT1094082	hsa-miR-4666-3p	CLIP-seq
MIRT1094083	hsa-miR-4668-3p	CLIP-seq
MIRT1094030	hsa-miR-4668-5p	CLIP-seq
MIRT1094084	hsa-miR-4694-3p	CLIP-seq
MIRT1094085	hsa-miR-4698	CLIP-seq
MIRT1094086	hsa-miR-4699-3p	CLIP-seq
MIRT1094087	hsa-miR-4700-3p	CLIP-seq
MIRT1094088	hsa-miR-4729	CLIP-seq
MIRT1094089	hsa-miR-4731-3p	CLIP-seq
MIRT1094090	hsa-miR-4760-3p	CLIP-seq
MIRT1094091	hsa-miR-4774-3p	CLIP-seq
MIRT1094092	hsa-miR-4789-5p	CLIP-seq
MIRT1094093	hsa-miR-4797-5p	CLIP-seq
MIRT1094094	hsa-miR-4801	CLIP-seq
MIRT1094095	hsa-miR-485-3p	CLIP-seq
MIRT1094096	hsa-miR-497	CLIP-seq
MIRT1094097	hsa-miR-501-5p	CLIP-seq
MIRT1094098	hsa-miR-503	CLIP-seq
MIRT1094099	hsa-miR-505	CLIP-seq
MIRT1094100	hsa-miR-507	CLIP-seq
MIRT1094101	hsa-miR-5095	CLIP-seq
MIRT1094102	hsa-miR-518a-5p	CLIP-seq
MIRT1094103	hsa-miR-522	CLIP-seq
MIRT1094104	hsa-miR-527	CLIP-seq
MIRT1094105	hsa-miR-543	CLIP-seq
MIRT1094032	hsa-miR-548c-3p	CLIP-seq
MIRT1094106	hsa-miR-548o	CLIP-seq
MIRT1094107	hsa-miR-557	CLIP-seq
MIRT1094108	hsa-miR-577	CLIP-seq
MIRT1094109	hsa-miR-579	CLIP-seq
MIRT1094110	hsa-miR-587	CLIP-seq
MIRT1094111	hsa-miR-628-3p	CLIP-seq
MIRT1094036	hsa-miR-641	CLIP-seq
MIRT1094112	hsa-miR-646	CLIP-seq
MIRT1094113	hsa-miR-656	CLIP-seq
MIRT1094114	hsa-miR-761	CLIP-seq
MIRT1094115	hsa-miR-9	CLIP-seq
MIRT1094116	hsa-miR-922	CLIP-seq
MIRT1094038	hsa-miR-103b	CLIP-seq
MIRT1094117	hsa-miR-376a	CLIP-seq
MIRT1094118	hsa-miR-376b	CLIP-seq
MIRT1094078	hsa-miR-4503	CLIP-seq
MIRT1094088	hsa-miR-4729	CLIP-seq
MIRT1094109	hsa-miR-579	CLIP-seq
MIRT1094038	hsa-miR-103b	CLIP-seq
MIRT1094040	hsa-miR-1260	CLIP-seq
MIRT1094041	hsa-miR-1280	CLIP-seq
MIRT1094042	hsa-miR-1284	CLIP-seq
MIRT1094054	hsa-miR-300	CLIP-seq
MIRT1094055	hsa-miR-3065-5p	CLIP-seq
MIRT2025214	hsa-miR-3074-3p	CLIP-seq
MIRT1094058	hsa-miR-3135	CLIP-seq
MIRT1094060	hsa-miR-3152-5p	CLIP-seq
MIRT2025215	hsa-miR-3618	CLIP-seq
MIRT2025216	hsa-miR-3622a-5p	CLIP-seq
MIRT1094029	hsa-miR-3671	CLIP-seq
MIRT1094065	hsa-miR-376c	CLIP-seq
MIRT1094066	hsa-miR-381	CLIP-seq
MIRT2025217	hsa-miR-3942-5p	CLIP-seq
MIRT1094069	hsa-miR-4269	CLIP-seq
MIRT2025218	hsa-miR-4422	CLIP-seq
MIRT2025219	hsa-miR-4423-3p	CLIP-seq
MIRT1094072	hsa-miR-4436a	CLIP-seq
MIRT1094073	hsa-miR-4438	CLIP-seq
MIRT1094076	hsa-miR-4474-5p	CLIP-seq
MIRT1094081	hsa-miR-4662a-3p	CLIP-seq
MIRT1094082	hsa-miR-4666-3p	CLIP-seq
MIRT1094086	hsa-miR-4699-3p	CLIP-seq
MIRT1094087	hsa-miR-4700-3p	CLIP-seq
MIRT2025220	hsa-miR-4703-5p	CLIP-seq
MIRT2025221	hsa-miR-4719	CLIP-seq
MIRT1094088	hsa-miR-4729	CLIP-seq
MIRT1094089	hsa-miR-4731-3p	CLIP-seq
MIRT1094090	hsa-miR-4760-3p	CLIP-seq
MIRT1094091	hsa-miR-4774-3p	CLIP-seq
MIRT1094094	hsa-miR-4801	CLIP-seq
MIRT1094095	hsa-miR-485-3p	CLIP-seq
MIRT2025222	hsa-miR-488	CLIP-seq
MIRT1094101	hsa-miR-5095	CLIP-seq
MIRT1094032	hsa-miR-548c-3p	CLIP-seq
MIRT2025223	hsa-miR-548g	CLIP-seq
MIRT1094109	hsa-miR-579	CLIP-seq
MIRT2025224	hsa-miR-595	CLIP-seq
MIRT1094035	hsa-miR-607	CLIP-seq
MIRT1094111	hsa-miR-628-3p	CLIP-seq
MIRT2025225	hsa-miR-934	CLIP-seq
MIRT2025226	hsa-miR-942	CLIP-seq
MIRT1094090	hsa-miR-4760-3p	CLIP-seq
MIRT1094095	hsa-miR-485-3p	CLIP-seq
MIRT2256495	hsa-miR-298	CLIP-seq
MIRT2025216	hsa-miR-3622a-5p	CLIP-seq
MIRT1094029	hsa-miR-3671	CLIP-seq
MIRT2256496	hsa-miR-3678-3p	CLIP-seq
MIRT2025219	hsa-miR-4423-3p	CLIP-seq
MIRT2025221	hsa-miR-4719	CLIP-seq
MIRT1094088	hsa-miR-4729	CLIP-seq
MIRT1094090	hsa-miR-4760-3p	CLIP-seq
MIRT2025222	hsa-miR-488	CLIP-seq
MIRT2256497	hsa-miR-520d-5p	CLIP-seq
MIRT2256498	hsa-miR-524-5p	CLIP-seq
MIRT2025224	hsa-miR-595	CLIP-seq
MIRT1094035	hsa-miR-607	CLIP-seq
MIRT1094051	hsa-miR-186	CLIP-seq
MIRT1094057	hsa-miR-3133	CLIP-seq
MIRT1094093	hsa-miR-4797-5p	CLIP-seq
MIRT1094110	hsa-miR-587	CLIP-seq
MIRT1094051	hsa-miR-186	CLIP-seq
MIRT1094057	hsa-miR-3133	CLIP-seq
MIRT1094093	hsa-miR-4797-5p	CLIP-seq
MIRT1094110	hsa-miR-587	CLIP-seq
MIRT2025221	hsa-miR-4719	CLIP-seq
MIRT1094029	hsa-miR-3671	CLIP-seq
MIRT2025221	hsa-miR-4719	CLIP-seq
MIRT1094090	hsa-miR-4760-3p	CLIP-seq
MIRT2025222	hsa-miR-488	CLIP-seq
MIRT2025224	hsa-miR-595	CLIP-seq
MIRT1094035	hsa-miR-607	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003777	Function	Microtubule motor activity	IBA
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	19020088, 19559006, 22084092, 24120883, 26496610
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007018	Process	Microtubule-based movement	IBA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008574	Function	Plus-end-directed microtubule motor activity	IDA	24120883
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030426	Component	Growth cone	IEA
GO:0031113	Process	Regulation of microtubule polymerization	IMP	24120883
GO:0031114	Process	Regulation of microtubule depolymerization	IMP	24120883
GO:0042995	Component	Cell projection	IEA
GO:0043622	Process	Cortical microtubule organization	IMP	24120883
GO:0044295	Component	Axonal growth cone	IDA	24120883
GO:0071532	Function	Ankyrin repeat binding	IPI	29183992
GO:0098793	Component	Presynapse	IEA
GO:1902667	Process	Regulation of axon guidance	IMP	24120883
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
608283	19349	ENSG00000139116

Q7Z4S6

Protein name

Kinesin-like protein KIF21A (Kinesin-like protein KIF2) (Renal carcinoma antigen NY-REN-62)

Protein function

Processive microtubule plus-end directed motor protein involved in neuronal axon guidance. Is recruited by KANK1 to cortical microtubule stabilizing complexes (CMSCs) at focal adhesions (FAs) rims where it promotes microtubule capture and stabil

PDB

5D3A , 5NFD , 5YBU , 5YBV , 7KLJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	15 → 371	Kinesin motor domain	Domain
PF00400	WD40	1337 → 1373	WD domain, G-beta repeat	Repeat
PF00400	WD40	1482 → 1523	WD domain, G-beta repeat	Repeat
PF00400	WD40	1575 → 1612	WD domain, G-beta repeat	Repeat
PF00400	WD40	1616 → 1652	WD domain, G-beta repeat	Repeat

Sequence

MLGAPDESSVRVAVRIRPQLAKEKIEGCHICTSVTPGEPQVFLGKDKAFTFDYVFDIDSQ
QEQIYIQCIEKLIEGCFEGYNATVFAYGQTGAGKTYTMGTGFDVNIVEEELGIISRAVKH
LFKSIEEKKHIAIKNGLPAPDFKVNAQFLELYNEEVLDLFDTTRDIDAKSKKSNIRIHED
STGGIYTVGVTTRTVNTESEMMQCLKLGALSRTTASTQMNVQSSRSHAIFTIHVCQTRVC
PQIDADNATDNKIISESAQMNEFETLTAKFHFVDLAGSERLKRTGATGERAKEGISINCG
LLALGNVISALGDKSKRATHVPYRDSKLTRLLQDSLGGNSQTIMIACVSPSDRDFMETLN
TLKYANRARNIKNKVMVNQDRASQQINALRSEITRLQMELMEYKTGKRIIDEEGVESIND
MFHENAMLQTENNNLRVRIKAMQETVDALRSRITQLVSDQANHVLARAGEGNEEISNMIH
SYIKEIEDLRAKLLESEAVNENLRKNLTRATARAPYFSGSSTFSPTILSSDKETIEIIDL
AKKDLEKLKRKEKRKKKRLQKLEESNREERSVAGKEDNTDTDQEKKEEKGVSERENNELE
VEESQEVSDHEDEEEEEEEEEDDIDGGESSDESDSESDEKANYQADLANITCEIAIKQKL
IDELENSQKRLQTLKKQYEEKLMMLQHKIRDTQLERDQVLQNLGSVESYSEEKAKKVRSE
YEKKLQAMNKELQRLQAAQKEHARLLKNQSQYEKQLKKLQQDVMEMKKTKVRLMKQMKEE
QEKARLTESRRNREIAQLKKDQRKRDHQLRLLEAQKRNQEVVLRRKTEEVTALRRQVRPM
SDKVAGKVTRKLSSSDAPAQDTGSSAAAVETDASRTGAQQKMRIPVARVQALPTPATNGN
RKKYQRKGLTGRVFISKTARMKWQLLERRVTDIIMQKMTISNMEADMNRLLKQREELTKR
REKLSKRREKIVKENGEGDKNVANINEEMESLTANIDYINDSISDCQANIMQMEEAKEEG
ETLDVTAVINACTLTEARYLLDHFLSMGINKGLQAAQKEAQIKVLEGRLKQTEITSATQN
QLLFHMLKEKAELNPELDALLGHALQDLDSVPLENVEDSTDEDAPLNSPGSEGSTLSSDL
MKLCGEVKPKNKARRRTTTQMELLYADSSELASDTSTGDASLPGPLTPVAEGQEIGMNTE
TSGTSAREKELSPPPGLPSKIGSISRQSSLSEKKIPEPSPVTRRKAYEKAEKSKAKEQKH
SDSGTSEASLSPPSSPPSRPRNELNVFNRLTVSQGNTSVQQDKSDESDSSLSEVHRSSRR
GIINPFPASKGIRAFPLQCIHIAEGHTKAVLCVDSTDDLLFTGSKDRTCKVWNLVTGQEI
MSLGGHPNNVVSVKYCNYTSLVFTVSTSYIKVWDIRDSAKCIRTLTSSGQVTLGDACSAS
TSRTVAIPSGENQINQIALNPTGTFLYAASGNAVRMWDLKRFQSTGKLTGHLGPVMCLTV
DQISSGQDLIITGSKDHYIKMFDVTEGALGTVSPTHNFEPPHYDGIEALTIQGDNLFSGS
RDNGIKKWDLTQKDLLQQVPNAHKDWVCALGVVPDHPVLLSGCRGGILKVWNMDTFMPVG
EMKGHDSPINAICVNSTHIFTAADDRTVRIWKARNLQDGQISDTGDLGEDIASN

Sequence length

1674

Interactions

View interactions

	KEGG		Reactome
	Motor proteins		COPI-dependent Golgi-to-ER retrograde traffic Kinesins

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of eye movement	Pathogenic	rs121912586	RCV005234777	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital fibrosis of extraocular muscles type 1	Pathogenic; Likely pathogenic	rs121912585, rs121912586, rs121912587, rs121912588, rs121912589, rs121912590, rs2500143880, rs2500405629, rs267603451	RCV000002538 RCV000002540 RCV000002542 RCV000002543 RCV000002544 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrosis of extraocular muscles, congenital, 3b	Pathogenic	rs121912585, rs121912586, rs267607200	RCV000002539 RCV000002541 RCV000002546	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIF21A-related disorder	Pathogenic; Likely pathogenic	rs121912585, rs121912590, rs1555167299	RCV003398420 RCV003402275 RCV003159607	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (22)

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.
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital aniridia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital fibrosis of extraocular muscles	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, GWAS catalog, Orphanet ClinGen, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FETAL AKINESIA DEFORMATION SEQUENCE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Papillary renal cell carcinoma type 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	39643435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	BEFREE	23799907		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	23799907	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31489986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	BEFREE	11960793, 15671279, 18332320, 19489868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	39643435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31489986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital bilateral ptosis	Congenital bilateral ptosis	BEFREE	10922204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	10844060, 10922204, 11180757, 11882252, 11960793, 12181522, 12899874, 14595441, 15223798, 15621876, 15671279, 15827546, 16131480, 16157808, 16365788 View all (24 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	11882252, 12181522, 15747768, 17511870, 21042561, 21264235, 23535681, 23799907, 24715754, 27513105, 31541710, 33251926, 33806565, 36494820, 39643435	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	GENOMICS_ENGLAND_DG	18332320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	19373680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corneal Ulcer	Corneal ulcer	Pubtator	31541710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	39643435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22968744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane Retraction Syndrome	BEFREE	18055799, 20393110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	36494820	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	BEFREE	21264235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	BEFREE	11180757, 11882252, 15621876, 17551929, 21264235, 22465342, 27485312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	UNIPROT_DG	14595441, 16157808, 17511870, 24715754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	GENOMICS_ENGLAND_DG	18332320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	BEFREE	10844060, 11882252		★★★★★ ★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)	CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)	CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31725680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	24715754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius syndrome	Pubtator	24715754	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15671279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31725680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31718774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	BEFREE	16131480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	28930843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	9683611	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	39643435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive ophthalmoplegia	Ophthalmoplegia	BEFREE	22465342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	11960793, 18332320, 19489868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory exotropia	Sensory exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	14595441, 17511870, 21264235, 22465342		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	21042561, 39643435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	15362574		★★★★★ ★☆☆☆☆ Found in Text Mining only

KIF21A (kinesin family member 21A)