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	9742
Gene name	Intraflagellar transport 140
Gene symbol	IFT140
Synonyms (NCBI Gene)	CED5MZSDSPKD9RP80SRTD9WDTC2c305C8.4c380F5.1gs114
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surfa

Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35823417	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs137925718	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, genic upstream transcript variant
rs141542834	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs141779807	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144028766	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs144513458	G>C	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs144726977	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs145549969	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs146172074	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs199826737	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, intron variant
rs201384469	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs372233286	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs374661866	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs376586707	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs387907192	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs431905520	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs554196965	G>A,C	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs559371453	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs587776909	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs746697405	TTGGCC>-,TTGGCCTTGGCC	Uncertain-significance, likely-pathogenic	Inframe insertion, genic downstream transcript variant, inframe deletion, coding sequence variant
rs764770536	C>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs766084603	->GCCC	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs777889289	C>A,T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs779007169	C>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs794727473	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1002670900	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs1057518064	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1417500285	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1423102192	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs1555474009	->TAGG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555486629	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1555487977	TATT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1567327347	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567330535	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant

Show/Hide all (61)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038876	hsa-miR-93-3p	CLASH	23622248
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT572795	hsa-miR-22-3p	PAR-CLIP	20371350
MIRT572794	hsa-miR-3681-5p	PAR-CLIP	20371350
MIRT572793	hsa-miR-6849-5p	PAR-CLIP	20371350
MIRT572791	hsa-miR-6080	PAR-CLIP	20371350
MIRT572792	hsa-miR-558	PAR-CLIP	20371350
MIRT572790	hsa-miR-4633-3p	PAR-CLIP	20371350
MIRT572789	hsa-miR-6500-5p	PAR-CLIP	20371350
MIRT572788	hsa-miR-6874-5p	PAR-CLIP	20371350
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT1060999	hsa-miR-4743	CLIP-seq
MIRT1061000	hsa-miR-541	CLIP-seq
MIRT1061001	hsa-miR-654-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014242	hsa-miR-103a	CLIP-seq
MIRT2014243	hsa-miR-107	CLIP-seq
MIRT2014244	hsa-miR-1184	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2014246	hsa-miR-15a	CLIP-seq
MIRT2014247	hsa-miR-15b	CLIP-seq
MIRT2014248	hsa-miR-16	CLIP-seq
MIRT2014249	hsa-miR-1909	CLIP-seq
MIRT2014250	hsa-miR-1912	CLIP-seq
MIRT2014251	hsa-miR-195	CLIP-seq
MIRT2014252	hsa-miR-22	CLIP-seq
MIRT2014253	hsa-miR-3158-5p	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2014254	hsa-miR-3665	CLIP-seq
MIRT2014255	hsa-miR-3681	CLIP-seq
MIRT2014256	hsa-miR-424	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2014257	hsa-miR-4736	CLIP-seq
MIRT2014258	hsa-miR-486-3p	CLIP-seq
MIRT2014259	hsa-miR-497	CLIP-seq
MIRT2014260	hsa-miR-532-5p	CLIP-seq
MIRT2014261	hsa-miR-544	CLIP-seq
MIRT2014262	hsa-miR-764	CLIP-seq
MIRT2014245	hsa-miR-1205	CLIP-seq
MIRT2246458	hsa-miR-3150a-3p	CLIP-seq
MIRT2246459	hsa-miR-3175	CLIP-seq
MIRT1060996	hsa-miR-3202	CLIP-seq
MIRT2246460	hsa-miR-3664-3p	CLIP-seq
MIRT2246461	hsa-miR-4267	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq
MIRT2246462	hsa-miR-939	CLIP-seq
MIRT1060997	hsa-miR-4287	CLIP-seq
MIRT1060998	hsa-miR-4685-3p	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27173435, 27932497, 29220510
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IDA	23418020
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IDA	27932497
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	NAS	27806291
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IEA
GO:0005930	Component	Axoneme	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0021532	Process	Neural tube patterning	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030991	Component	Intraciliary transport particle A	IBA
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0030991	Component	Intraciliary transport particle A	IEA
GO:0030991	Component	Intraciliary transport particle A	IPI	27173435
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035721	Process	Intraciliary retrograde transport	IBA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IEA
GO:0035721	Process	Intraciliary retrograde transport	IMP	22503633
GO:0035721	Process	Intraciliary retrograde transport	NAS	27806291
GO:0035845	Process	Photoreceptor cell outer segment organization	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	22503633
GO:0036064	Component	Ciliary basal body	IEA
GO:0042073	Process	Intraciliary transport	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042995	Component	Cell projection	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	28724397
GO:0060271	Process	Cilium assembly	NAS	27806291
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0061512	Process	Protein localization to cilium	IMP	22503633
GO:0097542	Component	Ciliary tip	TAS
GO:0097730	Component	Non-motile cilium	IEA
GO:0120199	Component	Cone photoreceptor outer segment	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	22503633
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
614620	29077	ENSG00000187535

Q96RY7

Protein name

Intraflagellar transport protein 140 homolog (WD and tetratricopeptide repeats protein 2)

Protein function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function o

PDB

8BBF , 8BBG , 8FGW , 8FH3

Family and domains

Sequence

MALYYDHQIEAPDAAGSPSFISWHPVHPFLAVAYISTTSTGSVDIYLEQGECVPDTHVER
PFRVASLCWHPTRLVLAVGWETGEVTVFNKQDKEQHTMPLTHTADITVLRWSPSGNCLLS
GDRLGVLLLWRLDQRGRVQGTPLLKHEYGKHLTHCIFRLPPPGEDLVQLAKAAVSGDEKA
LDMFNWKKSSSGSLLKMGSHEGLLFFVSLMDGTVHYVDEKGKTTQVVSADSTIQMLFYME
KREALVVVTENLRLSLYTVPPEGKAEEVMKVKLSGKTGRRADIALIEGSLLVMAVGEAAL
RFWDIERGENYILSPDEKFGFEKGENMNCVCYCKVKGLLAAGTDRGRVAMWRKVPDFLGS
PGAEGKDRWALQTPTELQGNITQIQWGSRKNLLAVNSVISVAILSERAMSSHFHQQVAAM
QVSPSLLNVCFLSTGVAHSLRTDMHISGVFATKDAVAVWNGRQVAIFELSGAAIRSAGTF
LCETPVLAMHEENVYTVESNRVQVRTWQGTVKQLLLFSETEGNPCFLDICGNFLVVGTDL
AHFKSFDLSRREAKAHCSCRSLAELVPGVGGIASLRCSSSGSTISILPSKADNSPDSKIC
FYDVEMDTVTVFDFKTGQIDRRETLSFNEQETNKSHLFVDEGLKNYVPVNHFWDQSEPRL
FVCEAVQETPRSQPQSANGQPQDGRAGPAADVLILSFFISEEHGFLLHESFPRPATSHSL
LGMEVPYYYFTRKPEEADREDEVEPGCHHIPQMVSRRPLRDFVGLEDCDKATRDAMLHFS
FFVTIGDMDEAFKSIKLIKSEAVWENMARMCVKTQRLDVAKVCLGNMGHARGARALREAE
QEPELEARVAVLATQLGMLEDAEQLYRKCKRHDLLNKFYQAAGRWQEALQVAEHHDRVHL
RSTYHRYAGHLEASADCSRALSYYEKSDTHRFEVPRMLSEDLPSLELYVNKMKDKTLWRW
WAQYLESQGEMDAALHYYELARDHFSLVRIHCFQGNVQKAAQIANETGNLAASYHLARQY
ESQEEVGQAVHFYTRAQAFKNAIRLCKENGLDDQLMNLALLSSPEDMIEAARYYEEKGVQ
MDRAVMLYHKAGHFSKALELAFATQQFVALQLIAEDLDETSDPALLARCSDFFIEHSQYE
RAVELLLAARKYQEALQLCLGQNMSITEEMAEKMTVAKDSSDLPEESRRELLEQIADCCM
RQGSYHLATKKYTQAGNKLKAMRALLKSGDTEKITFFASVSRQKEIYIMAANYLQSLDWR
KEPEIMKNIIGFYTKGRALDLLAGFYDACAQVEIDEYQNYDKAHGALTEAYKCLAKAKAK
SPLDQETRLAQLQSRMALVKRFIQARRTYTEDPKESIKQCELLLEEPDLDSTIRIGDVYG
FLVEHYVRKEEYQTAYRFLEEMRRRLPLANMSYYVSPQAVDAVHRGLGLPLPRTVPEQVR
HNSMEDARELDEEVVEEADDDP

Sequence length

1462

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

2580

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs770185023	RCV005895484
Asphyxiating thoracic dystrophy 1	Pathogenic	rs559314300	RCV004770312
Autosomal dominant polycystic kidney disease	Pathogenic; Likely pathogenic	rs376586707, rs144513458	RCV003993751 RCV005250107
Cranioectodermal dysplasia	Pathogenic	rs1417500285	RCV000626464
Cystic renal disease	Pathogenic; Likely pathogenic	rs2141800223, rs1432688490, rs376586707, rs140039128	RCV005860236 RCV005922537 RCV006252553 RCV006440035
IFT140-associated disorder	Likely pathogenic; Pathogenic	rs140039128	RCV005622011
IFT140-related disorder	Likely pathogenic; Pathogenic	rs777399400, rs1424099914, rs1432688490, rs1206753537, rs559314300, rs1221367358, rs554927827, rs1172857937, rs1253188873, rs2507642161, rs1567386464, rs1404356337, rs1226646214, rs376586707, rs201188361 View all (5 more)	RCV003416302 RCV003405632 RCV004753392 RCV003416523 RCV003913466 RCV003409908 RCV004731512 RCV003404251 RCV003408686 RCV003397540 RCV004753734 RCV003911620 RCV003979283 RCV003924859 RCV004752723 RCV003411642 RCV003411699 RCV004753029 RCV003892700 RCV004753238
Jeune thoracic dystrophy	Likely pathogenic; Pathogenic	rs431905521, rs770185023, rs201188361, rs587776909	RCV000515922 RCV000516131 RCV000515934 RCV000515983
Joubert syndrome with Jeune asphyxiating thoracic dystrophy	Likely pathogenic; Pathogenic	rs431905521, rs764770536	RCV000626469 RCV000626463
Nephronophthisis	Likely pathogenic; Pathogenic	rs201188361	RCV001328311
Polycystic kidney disease	Likely pathogenic; Pathogenic	rs1226646214, rs376586707	RCV005860406 RCV004760343
Polycystic kidney disease 9, susceptibility to	Pathogenic; Likely pathogenic	rs1253188873, rs376586707, rs140039128	RCV005871153 RCV005255556 RCV005260366
Renal cyst	Pathogenic; Likely pathogenic	rs1166261279, rs431905522, rs777399400, rs1432688490, rs1206753537, rs780965515, rs554927827, rs1253188873, rs1404356337, rs376586707, rs140039128, rs1567413573, rs144513458, rs762817061	RCV004785311 RCV004786361 RCV004789564 RCV006249771 RCV004785356 RCV004785570 RCV006249862 RCV004786937 RCV006257390 RCV004786282 RCV004788137 RCV004788149 RCV006249678 RCV005417387
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	Likely pathogenic; Pathogenic	rs201188361, rs1555474009	RCV000626465 RCV000626466
Retinal disorder	Pathogenic	rs770731272	RCV006261751
Retinal dystrophy	Pathogenic; Likely pathogenic	rs1166261279, rs431905521, rs1432688490, rs779007169, rs1221627009, rs1567386464, rs2506064268, rs2506103002, rs2506113603, rs2141172134, rs749330035, rs2141180025, rs376586707, rs758052634, rs1002670900 View all (8 more)	RCV004815633 RCV004815018 RCV003888321 RCV004816249 RCV004817049 RCV003889359 RCV003889695 RCV003889697 RCV003889702 RCV003889703 RCV003889704 RCV003889708 RCV001075306 RCV001073305 RCV001075043 RCV001073518 RCV001074940 RCV001075334 RCV001075809 RCV001075497 RCV001073385 RCV001074232 RCV001073817
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs431905521, rs780965515, rs779007169, rs1221367358, rs2507421825, rs770185023, rs1253188873, rs773372123, rs758052634, rs1423102192, rs140039128, rs772757427	RCV004579537 RCV002308671 RCV000201484 RCV005406501 RCV003485805 RCV003155145 RCV005406679 RCV000504730 RCV002282196 RCV001779029 RCV001724143 RCV005432644
Retinitis pigmentosa 80	Pathogenic; Likely pathogenic	rs1166261279, rs431905521, rs431905522, rs2141172226, rs777399400, rs763737398, rs2040683256, rs2141800223, rs2141882563, rs1415763185, rs2141816540, rs1432688490, rs1206753537, rs2040685752, rs1307461796 View all (52 more)	RCV002503275 RCV005016363 RCV002498438 RCV001535861 RCV005005913 RCV002551562 RCV001542690 RCV001542781 RCV001591792 RCV002496049 RCV002503266 RCV002503283 RCV005014743 RCV002492177 RCV005016841 RCV002250785 RCV005008310 RCV005016777 RCV005016933 RCV002503625 RCV002503448 RCV005017202 RCV005019246 RCV005008700 RCV005019360 RCV005008737 RCV005019413 RCV006249398 RCV003152928 RCV002503978 RCV005021939 RCV005014785 RCV005013161 RCV005015069 RCV003991103 RCV003991116 RCV003991363 RCV003992094 RCV004545928 RCV004555307 RCV004555499 RCV005010314 RCV000515561 RCV000515584 RCV001249674 RCV005007894 RCV005010467 RCV000515559 RCV000515582 RCV000515606 RCV005010468 RCV002506390 RCV005260253 RCV005019038 RCV001535954 RCV002500984 RCV005021163 RCV000786892 RCV005012417 RCV002482151 RCV005021433 RCV005012630 RCV002497752 RCV002480683 RCV002497804 RCV002499458 RCV002250740
Saldino-Mainzer syndrome	Pathogenic; Likely pathogenic	rs2035852852, rs1166261279, rs431905520, rs431905521, rs431905522, rs574450870, rs2141172226, rs372746686, rs777399400, rs1424099914, rs763737398, rs2142100542, rs2141800223, rs1415763185, rs2141816540 View all (100 more)	RCV002746624 RCV001785239 RCV000083296 RCV000083297 RCV001854453 RCV001353344 RCV001535861 RCV001381146 RCV001381246 RCV001383877 RCV001387808 RCV001386540 RCV005014583 RCV001726721 RCV002503266 RCV001795667 RCV002541298 RCV001892734 RCV001878656 RCV001970594 RCV001907936 RCV001973205 RCV001951871 RCV001964909 RCV001893287 RCV001911115 RCV001975158 RCV001922623 RCV002007187 RCV001923946 RCV001875192 RCV001942275 RCV001885593 RCV001975244 RCV001975110 RCV001910217 RCV002009106 RCV005017202 RCV003085346 RCV003104695 RCV002583614 RCV002695487 RCV002736210 RCV002760937 RCV002786680 RCV002761577 RCV002825211 RCV002835047 RCV002866735 RCV002847247 RCV002866951 RCV003041770 RCV003046017 RCV003032727 RCV003050292 RCV000490349 RCV001055096 RCV003236626 RCV005021939 RCV003530369 RCV003530871 RCV003531074 RCV003531018 RCV003646176 RCV003646389 RCV003646528 RCV003646500 RCV003646639 RCV003646848 RCV003646931 RCV003647104 RCV003876661 RCV005101488 RCV005015111 RCV005015179 RCV004555781 RCV001386349 RCV000024359 RCV000024360 RCV000024361 RCV000024362 RCV000024363 RCV000024364 RCV001002703 RCV005010467 RCV001857877 RCV000515580 RCV001230423 RCV001860011 RCV000626463 RCV000626460 RCV000626464 RCV000626468 RCV000626461 RCV000704469 RCV002535022 RCV001281143 RCV002500984 RCV000779179 RCV000989408 RCV002482151 RCV003645884 RCV002554659 RCV003645883 RCV001197586 RCV005012630 RCV002497752 RCV001208661 RCV001246196 RCV001234793 RCV001237006 RCV001244818 RCV001251125 RCV002499458 RCV001379861
See cases	Likely pathogenic; Pathogenic	rs2141540660	RCV002252731

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs115039155, rs114832254	RCV005916806 RCV005924787
Cholangiocarcinoma	Benign	rs7192480, rs2273679	RCV005914951 RCV005918208
Cleft palate	Conflicting classifications of pathogenicity	rs139619013, rs201065562	RCV005625365 RCV005625546
Cranioectodermal dysplasia 5	Conflicting classifications of pathogenicity	rs199826737, rs769075694	RCV005259988 RCV005262240
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs774109456, rs896702540, rs143491016, rs143537808	RCV005924003 RCV005928469 RCV005903227 RCV005912512
Gastric cancer	Conflicting classifications of pathogenicity; Benign	rs139619013, rs137995818	RCV005889731 RCV005894421
Hepatocellular carcinoma	Benign	rs137995818	RCV005894419
Kidney disorder	Likely benign	rs560111717	RCV004701869
Leber congenital amaurosis	Uncertain significance	rs2141175065, rs771116194	RCV001591786 RCV001591791
Lung cancer	Benign	rs114832254	RCV005924789
Malignant lymphoma, large B-cell, diffuse	Benign	rs2273679	RCV005918206
Malignant tumor of esophagus	Benign	rs117976472, rs137995818	RCV005925051 RCV005894420
Malignant tumor of urinary bladder	Uncertain significance	rs143537808	RCV005912513
Microcephaly	Conflicting classifications of pathogenicity	rs201384469, rs147292597	RCV001252699 RCV001252753
Myoepithelial tumor	Uncertain significance	rs2507831197	RCV002463913
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	rs35433680	RCV005907201
Optic atrophy	Uncertain significance	rs751413638	RCV004816856
Orofacial-digital syndrome III	Conflicting classifications of pathogenicity	rs746697405	RCV000256471
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs115039155, rs117976472, rs139619013, rs137995818	RCV005916807 RCV005925052 RCV005889732 RCV005894422
Sarcoma	Benign; Conflicting classifications of pathogenicity	rs114832254, rs35433680	RCV005924788 RCV005907202
Thymoma	Benign; Conflicting classifications of pathogenicity	rs115039155, rs117976472, rs137995818, rs372183503	RCV005916808 RCV005925053 RCV005894423 RCV005913773
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs369425839	RCV005893427
Uterine carcinosarcoma	Likely benign; Benign	rs759566930, rs7192480, rs2273679	RCV005912699 RCV005914950 RCV005918207
Uterine corpus endometrial carcinoma	Benign	rs115039155, rs114832254	RCV005916809 RCV005924790
Uveal melanoma	Benign	rs7192480, rs2273679	RCV005914949 RCV005918205

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arrest of spermatogenesis	Associate	38084016
Ciliary Motility Disorders	Associate	34556108
Ciliopathies	Associate	26968735, 29688594, 29706353, 34890546, 37628605
Cranioectodermal Dysplasia	Associate	32007091, 37628605
Cysts	Associate	40428294
Disease	Associate	26968735
Familial paroxysmal dystonia	Associate	34890546
Hamartoma	Associate	35137044
Hypertension	Associate	39732359
Hyperuricemia	Associate	40428294
Hypothalamic hamartomas	Associate	35137044
Infertility	Associate	38084016
Infertility Male	Associate	38084016
Jeune syndrome	Associate	22503633
Kidney Diseases	Associate	29706353, 39732359
Kidney Diseases Cystic	Associate	34890546, 36573973
Kidney Failure Chronic	Associate	32007091, 37628605
Leber Congenital Amaurosis	Associate	26216056
Liver Failure	Associate	34890546
Nephronophthisis familial juvenile	Associate	29706353
Nystagmus Pathologic	Associate	37628605
Polycystic Kidney Autosomal Dominant	Associate	34890546, 39732359, 40428294
Renal Insufficiency	Associate	32007091, 34890546, 39732359
Retinal Degeneration	Associate	26216056
Retinal Dystrophies	Associate	26968735, 36084042
Retinitis Pigmentosa	Associate	26216056, 26968735, 29688594, 38084016
RHYNS syndrome	Associate	38084016
Short Rib Polydactyly Syndrome	Associate	22503633, 29688594, 34217267, 34890546, 37628605, 38084016
Spermatogenic Failure Nonobstructive Y Linked	Associate	38084016
Thymoma	Associate	34219124

IFT140 (intraflagellar transport 140)