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TTC21B (tetratricopeptide repeat domain 21B)

Gene

79809

Tetratricopeptide repeat domain 21B

TTC21B

ATD4, CFAP60, FAP60, FLA17, IFT139, IFT139B, JBTS11, NPHP12, Nbla10696, SRTD4, THM1

2q24.3

This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associa

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs76726265	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs79746977	G>A	Pathogenic	Coding sequence variant, stop gained
rs139441507	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Coding sequence variant, missense variant
rs140384742	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant, 3 prime UTR variant
rs146320075	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146496725	G>C	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs149325238	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs185089786	G>A,C	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs369159801	G>T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387907059	A>T	Pathogenic	Coding sequence variant, stop gained
rs387907060	A>G	Pathogenic	Coding sequence variant, missense variant
rs753627675	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs759086770	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, 3 prime UTR variant, missense variant
rs759648976	->CACCCGC	Likely-pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, inframe indel
rs760214276	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs766132877	T>C	Pathogenic	Splice acceptor variant, synonymous variant, coding sequence variant
rs775836730	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs866222900	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1453462442	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553506530	TA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1553508246	T>C	Likely-pathogenic	Splice acceptor variant
rs1553516687	G>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, missense variant
rs1559056633	G>A	Pathogenic	Stop gained, coding sequence variant
rs1574070787	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant

Show/Hide all(212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046982	hsa-miR-218-5p	CLASH	23622248
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT696584	hsa-miR-3974	HITS-CLIP	23313552
MIRT696583	hsa-miR-624-3p	HITS-CLIP	23313552
MIRT696582	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT696581	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT696580	hsa-miR-940	HITS-CLIP	23313552
MIRT696578	hsa-miR-4457	HITS-CLIP	23313552
MIRT696579	hsa-miR-125b-2-3p	HITS-CLIP	23313552
MIRT696577	hsa-miR-383-3p	HITS-CLIP	23313552
MIRT696576	hsa-miR-1827	HITS-CLIP	23313552
MIRT696575	hsa-miR-6089	HITS-CLIP	23313552
MIRT696574	hsa-miR-3665	HITS-CLIP	23313552
MIRT696573	hsa-miR-4736	HITS-CLIP	23313552
MIRT696572	hsa-miR-7106-5p	HITS-CLIP	23313552
MIRT696571	hsa-miR-149-3p	HITS-CLIP	23313552
MIRT696570	hsa-miR-4728-5p	HITS-CLIP	23313552
MIRT696569	hsa-miR-6785-5p	HITS-CLIP	23313552
MIRT696568	hsa-miR-6883-5p	HITS-CLIP	23313552
MIRT696567	hsa-miR-6799-5p	HITS-CLIP	23313552
MIRT696566	hsa-miR-3165	HITS-CLIP	23313552
MIRT696565	hsa-miR-513b-5p	HITS-CLIP	23313552
MIRT696564	hsa-miR-7977	HITS-CLIP	23313552
MIRT696563	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT696562	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT696561	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT696560	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT696559	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT696558	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT696557	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT696556	hsa-miR-3689c	HITS-CLIP	23313552
MIRT696555	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT696554	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT696553	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT696552	hsa-miR-3122	HITS-CLIP	23313552
MIRT696551	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT696550	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT696549	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT1461039	hsa-miR-1287	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT1461041	hsa-miR-3135b	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT1461046	hsa-miR-4434	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461049	hsa-miR-4516	CLIP-seq
MIRT1461050	hsa-miR-4531	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2138458	hsa-miR-24	CLIP-seq
MIRT1461043	hsa-miR-3922-5p	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2138460	hsa-miR-4284	CLIP-seq
MIRT2138461	hsa-miR-4466	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2138462	hsa-miR-4505	CLIP-seq
MIRT2138463	hsa-miR-4746-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138468	hsa-miR-675	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2138457	hsa-miR-1227	CLIP-seq
MIRT2359373	hsa-miR-1278	CLIP-seq
MIRT2359374	hsa-miR-1323	CLIP-seq
MIRT2359375	hsa-miR-136	CLIP-seq
MIRT2359376	hsa-miR-15a	CLIP-seq
MIRT2359377	hsa-miR-15b	CLIP-seq
MIRT2359378	hsa-miR-16	CLIP-seq
MIRT2359379	hsa-miR-195	CLIP-seq
MIRT2359380	hsa-miR-23a	CLIP-seq
MIRT2359381	hsa-miR-23b	CLIP-seq
MIRT2359382	hsa-miR-23c	CLIP-seq
MIRT2359383	hsa-miR-3120-3p	CLIP-seq
MIRT2359384	hsa-miR-3121-3p	CLIP-seq
MIRT2359385	hsa-miR-3171	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2359387	hsa-miR-3591-3p	CLIP-seq
MIRT2359388	hsa-miR-3671	CLIP-seq
MIRT2359389	hsa-miR-3682-5p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2359390	hsa-miR-424	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT2359391	hsa-miR-4261	CLIP-seq
MIRT2359392	hsa-miR-4267	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2359393	hsa-miR-4459	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT2359394	hsa-miR-4496	CLIP-seq
MIRT2359395	hsa-miR-4695-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT2359396	hsa-miR-4749-3p	CLIP-seq
MIRT2359397	hsa-miR-4753-3p	CLIP-seq
MIRT2359398	hsa-miR-4762-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT2359399	hsa-miR-4797-5p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2359400	hsa-miR-497	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2359401	hsa-miR-548o	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT2359402	hsa-miR-658	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2359403	hsa-miR-665	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT2359404	hsa-miR-885-5p	CLIP-seq
MIRT2359405	hsa-miR-942	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2652624	hsa-miR-183	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq
MIRT1461040	hsa-miR-2114	CLIP-seq
MIRT2359386	hsa-miR-335	CLIP-seq
MIRT2462598	hsa-miR-3613-3p	CLIP-seq
MIRT1461042	hsa-miR-3675-3p	CLIP-seq
MIRT1461044	hsa-miR-3929	CLIP-seq
MIRT2138459	hsa-miR-4252	CLIP-seq
MIRT1461045	hsa-miR-4419b	CLIP-seq
MIRT2462599	hsa-miR-4455	CLIP-seq
MIRT1461047	hsa-miR-4478	CLIP-seq
MIRT1461048	hsa-miR-4486	CLIP-seq
MIRT1461051	hsa-miR-4540	CLIP-seq
MIRT1461052	hsa-miR-4684-5p	CLIP-seq
MIRT1461053	hsa-miR-4722-5p	CLIP-seq
MIRT1461054	hsa-miR-4768-3p	CLIP-seq
MIRT2138464	hsa-miR-4793-3p	CLIP-seq
MIRT1461055	hsa-miR-485-5p	CLIP-seq
MIRT2138465	hsa-miR-508-5p	CLIP-seq
MIRT2138466	hsa-miR-513b	CLIP-seq
MIRT2652625	hsa-miR-532-5p	CLIP-seq
MIRT1461056	hsa-miR-548c-3p	CLIP-seq
MIRT1461057	hsa-miR-605	CLIP-seq
MIRT2138467	hsa-miR-624	CLIP-seq
MIRT1461058	hsa-miR-661	CLIP-seq
MIRT2138469	hsa-miR-766	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	22302990
GO:0030991	Component	Intraciliary transport particle A	IBA	21873635
GO:0030991	Component	Intraciliary transport particle A	IDA	20889716, 27932497
GO:0035721	Process	Intraciliary retrograde transport	IBA	21873635
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0061512	Process	Protein localization to cilium	IBA	21873635
GO:0061512	Process	Protein localization to cilium	IMP	20889716
GO:0097542	Component	Ciliary tip	TAS
GO:1905799	Process	Regulation of intraciliary retrograde transport	IMP	27932497

MIM	HGNC	e!Ensembl
612014	25660	ENSG00000123607

Protein

UniProt ID

Q7Z4L5

Protein name

Tetratricopeptide repeat protein 21B (TPR repeat protein 21B) (Intraflagellar transport 139 homolog)

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). Essential for retrograde trafficking of IFT-1, IFT-B and GPCRs (PubMed:27932497). Negatively

PDB

8BBE , 8BBG , 8FGW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13181	TPR_8	722 → 755	Tetratricopeptide repeat	Repeat
PF13181	TPR_8	790 → 822	Tetratricopeptide repeat	Repeat
PF14559	TPR_19	894 → 961		Domain

Sequence

MDSQELKTLINYYCQERYFHHVLLVASEGIKRYGSDPVFRFYHAYGTLMEGKTQEALREF
EAIKNKQDVSLCSLLALIYAHKMSPNPDREAILESDARVKEQRKGAGEKALYHAGLFLWH
IGRHDKAREYIDRMIKISDGSKQGHVLKAWLDITRGKEPYTKKALKYFEEGLQDGNDTFA
LLGKAQCLEMRQNYSGALETVNQIIVNFPSFLPAFVKKMKLQLALQDWDQTVETAQRLLL
QDSQNVEALRMQALYYVCREGDIEKASTKLENLGNTLDAMEPQNAQLFYNITLAFSRTCG
RSQLILQKIQTLLERAFSLNPQQSEFATELGYQMILQGRVKEALKWYKTAMTLDETSVSA
LVGFIQCQLIEGQLQDADQQLEFLNEIQQSIGKSAELIYLHAVLAMKKNKRQEEVINLLN
DVLDTHFSQLEGLPLGIQYFEKLNPDFLLEIVMEYLSFCPMQPASPGQPLCPLLRRCISV
LETVVRTVPGLLQTVFLIAKVKYLSGDIEAAFNNLQHCLEHNPSYADAHLLLAQVYLSQE
KVKLCSQSLELCLSYDFKVRDYPLYHLIKAQSQKKMGEIADAIKTLHMAMSLPGMKRIGA
STKSKDRKTEVDTSHRLSIFLELIDVHRLNGEQHEATKVLQDAIHEFSGTSEEVRVTIAN
ADLALAQGDIERALSILQNVTAEQPYFIEAREKMADIYLKHRKDKMLYITCFREIAERMA
NPRSFLLLGDAYMNILEPEEAIVAYEQALNQNPKDGTLASKMGKALIKTHNYSMAITYYE
AALKTGQKNYLCYDLAELLLKLKWYDKAEKVLQHALAHEPVNELSALMEDGRCQVLLAKV
YSKMEKLGDAITALQQARELQARVLKRVQMEQPDAVPAQKHLAAEICAEIAKHSVAQRDY
EKAIKFYREALVHCETDNKIMLELARLYLAQDDPDSCLRQCALLLQSDQDNEAATMMMAD
LMFRKQDYEQAVFHLQQLLERKPDNYMTLSRLIDLLRRCGKLEDVPRFFSMAEKRNSRAK
LEPGFQYCKGLYLWYTGEPNDALRHFNKARKDRDWGQNALYNMIEICLNPDNETVGGEVF
ENLDGDLGNSTEKQESVQLAVRTAEKLLKELKPQTVQGHVQLRIMENYCLMATKQKSNVE
QALNTFTEIAASEKEHIPALLGMATAYMILKQTPRARNQLKRIAKMNWNAIDAEEFEKSW
LLLADIYIQSAKYDMAEDLLKRCLRHNRSCCKAYEYMGYIMEKEQAYTDAALNYEMAWKY
SNRTNPAVGYKLAFNYLKAKRYVDSIDICHQVLEAHPTYPKIRKDILDKARASLRP

Sequence length

1316

Interactions

View interactions

	Reactome
			Hedgehog 'off' state Intraflagellar transport

Associated diseases

Show/Hide Causal Diseases (14)

Causal
Disease name	Disease term	dbSNP ID	References
Asphyxiating thoracic dystrophy	Saldino-Noonan Syndrome, Asphyxiating Thoracic Dystrophy 1	rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980, rs387906982, rs185089786, rs387907060, rs397514637, rs431905507, rs138004478, rs786205645, rs794727944, rs780539887, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs864622358, rs200460601, rs755883373, rs754919042, rs886039815, rs886039812, rs758522600, rs886039795, rs201037487, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs431905497, rs368631447, rs759086770, rs775836730, rs1456300819, rs1554478948, rs1554770620, rs1554771066, rs555339053, rs896105030, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555051720, rs745870321, rs1555052524, rs901629870, rs1555054771, rs1461272672, rs780855765, rs1555060411, rs1243999036, rs1555060940, rs1555061228, rs747348765, rs1322884865, rs1555062340, rs1555063811, rs537704873, rs1386343205, rs762588952, rs1350329646, rs1555064376, rs1555066796, rs200614421, rs964711006, rs1196317554, rs747857715, rs1214801816, rs371940321, rs1555068270, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1555077194, rs780600124, rs1261505725, rs200710887, rs181011657, rs1555082470, rs1453448143, rs369658526, rs766816050, rs756811136, rs368654019, rs1223907858, rs759549373, rs760214276, rs1565317399, rs1565329461, rs767846762, rs1565359085, rs751891969, rs1565390180, rs1384888093, rs1565394086, rs1565438488, rs561778796, rs373536938, rs767206815, rs371932985, rs372878677, rs1577822861, rs1327583103, rs1862810311	21258341
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Finnish congenital nephrotic syndrome	Finnish congenital nephrotic syndrome	rs28939378, rs137853042, rs267606919, rs267606917, rs17107315, rs140511594, rs386833863, rs386833864, rs386833865, rs386833866, rs386833867, rs386833869, rs386833871, rs386833870, rs386833872, rs386833874, rs386833873, rs386833875, rs386833876, rs386833877, rs386833878, rs386833880, rs386833881, rs386833882, rs386833883, rs386833884, rs386833885, rs386833886, rs386833887, rs386833888, rs386833889, rs386833890, rs386833891, rs386833892, rs386833893, rs386833894, rs386833895, rs386833897, rs386833898, rs386833899, rs191807913, rs386833900, rs386833901, rs386833902, rs386833903, rs386833904, rs386833905, rs386833906, rs386833907, rs386833908, rs386833909, rs386833910, rs386833911, rs114203578, rs386833912, rs386833913, rs386833914, rs386833915, rs386833916, rs386833917, rs386833918, rs386833919, rs386833920, rs386833921, rs386833922, rs386833923, rs386833924, rs386833925, rs386833926, rs386833927, rs386833928, rs386833929, rs386833930, rs386833931, rs386833932, rs386833935, rs386833937, rs386833938, rs386833939, rs386833940, rs386833941, rs386833942, rs386833943, rs386833944, rs386833945, rs386833946, rs386833947, rs386833948, rs386833949, rs386833950, rs386833951, rs386833952, rs386833953, rs386833954, rs386833955, rs1555763603, rs386833957, rs386833958, rs386833959, rs386833961, rs386833962, rs730880176, rs730880174, rs530318579, rs150855173, rs786204729, rs138656762, rs150038620, rs139598219, rs1057516637, rs748819031, rs369410355, rs751809997, rs755763002, rs1057517022, rs1057517021, rs1057516918, rs1057516776, rs1057517413, rs781584590, rs778217926, rs1057517275, rs1054950770, rs1057516942, rs1057524695, rs1131692245, rs1555761997, rs1555763372, rs749341977, rs762392183, rs1555758163, rs767887213, rs756436580, rs758432802, rs34124941, rs1555762381, rs1244884053, rs763972372, rs1555763503, rs1555764281, rs750714387, rs771953692, rs1555763974, rs1430464721, rs1555758856, rs1009762900, rs762184939, rs778951863, rs1555762591, rs1555763090, rs1555763460, rs772979927, rs767832658, rs140018064, rs1315968443, rs1579327590, rs1599835856, rs1599845714, rs1420307327, rs1599845689, rs1972879328, rs1161720919, rs1973176439
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677	21258341, 24876116, 22791528
Kidney disease	Kidney Diseases, Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	21258341
Nephronophthisis	Nephronophthisis, NEPHRONOPHTHISIS 2, NEPHRONOPHTHISIS 12, Infantile nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs759330, rs2070634, rs2070635, rs353623, rs353618, rs353612, rs353637, rs353630, rs353647, rs3794110, rs3794109, rs112762, rs3794105, rs7110737, rs7116432, rs6055363, rs2294305, rs2235250, rs2294301, rs2423326, rs6118004, rs2205818, rs2142697, rs6140463, rs2235245, rs2255183, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	24876116, 21258341, 21258341, 24876116, 26940125, 21258341, 22425360
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Renal insufficiency	Renal Insufficiency	rs1596536873
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Senior-loken syndrome	Senior-Loken Syndrome 1	rs397515335, rs387906218, rs397515336, rs397515337, rs2137713030, rs121918244, rs750962965, rs1156803164, rs1474058708, rs121918245, rs137852922, rs137852923, rs387906980, rs786200929, rs373909351, rs387907009, rs398123538, rs62638179, rs587777348, rs587777351, rs79436363, rs587777352, rs587783011, rs727503968, rs727503969, rs786204852, rs374400438, rs794727964, rs797045946, rs797045947, rs797045948, rs771454167, rs886037896, rs765903345, rs886037897, rs886037898, rs886037899, rs886039814, rs886041912, rs201405662, rs745340459, rs866982675, rs1189889920, rs370210428, rs1280238814, rs1390963789, rs748174246, rs779696701, rs745954112, rs1949141890
Short rib-polydactyly syndrome	Short Rib-Polydactyly Syndrome, Short rib-polydactyly syndrome, Beemer type, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815	24876116, 21258341
Short-rib thoracic dysplasia with polydactyly	SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY	rs1553516241
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Ciliopathies	Ciliopathies
Congenital hepatic fibrosis	Hepatic Fibrosis, Congenital		26940125, 24876116
Disorder of eye	Disorder of eye
Dwarfism	Dwarfism
Foot polydactyly	Postaxial foot polydactyly
Jeune syndrome	Jeune syndrome
Liver cyst	Liver cyst
Majewski syndrome	Majewski Syndrome
Micromelia	Micromelia
Syndactyly of the toes	Syndactyly of the toes
Postaxial hand polydactyly	Ulnar polydactyly of fingers

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