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	123016
Gene name	Tetratricopeptide repeat domain 8
Gene symbol	TTC8
Synonyms (NCBI Gene)	BBS8RP51
Chromosome	14
Chromosome location	14q31.3
Summary	This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryot

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119103286	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs140698625	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs142938748	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs200113889	C>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs587777806	GAGTAT>-	Pathogenic	Intron variant, inframe deletion, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs587777807	TGC>-	Pathogenic	Intron variant, splice donor variant
rs587777808	G>A	Pathogenic	Intron variant, splice donor variant
rs587777809	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant, intron variant
rs876661403	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs1595939517	GT>-	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant

186

Show/Hide all (186)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002556	hsa-miR-373-3p	Microarray	15685193
MIRT002556	hsa-miR-373-3p	Microarray;Other	15685193
MIRT022749	hsa-miR-124-3p	Microarray	18668037
MIRT048124	hsa-miR-197-3p	CLASH	23622248
MIRT038637	hsa-miR-125a-3p	CLASH	23622248
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	20371350
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT551106	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT551104	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT551105	hsa-miR-605-5p	PAR-CLIP	21572407
MIRT551103	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT551102	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT551101	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT551100	hsa-miR-5692b	PAR-CLIP	21572407
MIRT551099	hsa-miR-5692c	PAR-CLIP	21572407
MIRT551098	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT551097	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT551095	hsa-miR-486-5p	PAR-CLIP	21572407
MIRT551096	hsa-miR-4742-3p	PAR-CLIP	21572407
MIRT551094	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT551093	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT551092	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT551091	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	22012620
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23446348
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23446348
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT439378	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT439378	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	27292025
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	20371350
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	20371350
MIRT551106	hsa-miR-548at-5p	PAR-CLIP	21572407
MIRT551104	hsa-miR-561-3p	PAR-CLIP	21572407
MIRT551105	hsa-miR-605-5p	PAR-CLIP	21572407
MIRT551103	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT551102	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT551101	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT551100	hsa-miR-5692b	PAR-CLIP	21572407
MIRT551099	hsa-miR-5692c	PAR-CLIP	21572407
MIRT551098	hsa-miR-656-3p	PAR-CLIP	21572407
MIRT551097	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT551095	hsa-miR-486-5p	PAR-CLIP	21572407
MIRT551096	hsa-miR-4742-3p	PAR-CLIP	21572407
MIRT551094	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT551093	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT551092	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT551091	hsa-miR-4795-3p	PAR-CLIP	21572407
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	21572407
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	21572407
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	22012620
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	22012620
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23446348
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23446348
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23446348
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT457448	hsa-miR-138-2-3p	PAR-CLIP	23592263
MIRT457447	hsa-miR-4524a-3p	PAR-CLIP	23592263
MIRT1461932	hsa-miR-1228	CLIP-seq
MIRT1461933	hsa-miR-140-3p	CLIP-seq
MIRT1461934	hsa-miR-18a	CLIP-seq
MIRT1461935	hsa-miR-18b	CLIP-seq
MIRT1461936	hsa-miR-3199	CLIP-seq
MIRT1461937	hsa-miR-3622a-5p	CLIP-seq
MIRT1461938	hsa-miR-410	CLIP-seq
MIRT1461939	hsa-miR-4328	CLIP-seq
MIRT1461940	hsa-miR-4423-3p	CLIP-seq
MIRT1461941	hsa-miR-4735-3p	CLIP-seq
MIRT1461942	hsa-miR-548m	CLIP-seq
MIRT1461943	hsa-miR-562	CLIP-seq
MIRT2138769	hsa-miR-221	CLIP-seq
MIRT2138770	hsa-miR-222	CLIP-seq
MIRT2138771	hsa-miR-3129-3p	CLIP-seq
MIRT2138772	hsa-miR-889	CLIP-seq
MIRT2359646	hsa-miR-1224-3p	CLIP-seq
MIRT2359647	hsa-miR-1260	CLIP-seq
MIRT2359648	hsa-miR-1260b	CLIP-seq
MIRT2359649	hsa-miR-1280	CLIP-seq
MIRT2359650	hsa-miR-340	CLIP-seq
MIRT2359651	hsa-miR-3941	CLIP-seq
MIRT2359652	hsa-miR-466	CLIP-seq
MIRT2359653	hsa-miR-4672	CLIP-seq
MIRT2359654	hsa-miR-532-3p	CLIP-seq
MIRT2694445	hsa-miR-153	CLIP-seq
MIRT2694446	hsa-miR-155	CLIP-seq
MIRT2694447	hsa-miR-299-3p	CLIP-seq
MIRT2694448	hsa-miR-3127-3p	CLIP-seq
MIRT2694449	hsa-miR-3140-3p	CLIP-seq
MIRT2694450	hsa-miR-3679-3p	CLIP-seq
MIRT2694451	hsa-miR-3977	CLIP-seq
MIRT2694452	hsa-miR-4446-5p	CLIP-seq
MIRT2694453	hsa-miR-4473	CLIP-seq
MIRT2694454	hsa-miR-448	CLIP-seq
MIRT2694455	hsa-miR-4491	CLIP-seq
MIRT2694456	hsa-miR-4511	CLIP-seq
MIRT2694457	hsa-miR-4657	CLIP-seq
MIRT2694458	hsa-miR-512-3p	CLIP-seq
MIRT2694459	hsa-miR-520f	CLIP-seq
MIRT2694460	hsa-miR-548b-3p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0005515	Function	Protein binding	IPI	14520415, 16327777, 17574030, 18762586, 24550735, 24939912, 25552655
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005813	Component	Centrosome	IDA	14520415
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	14520415
GO:0005929	Component	Cilium	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007600	Process	Sensory perception	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0034464	Component	BBSome	IBA
GO:0034464	Component	BBSome	IDA	17574030, 20080638, 24550735
GO:0034464	Component	BBSome	IEA
GO:0034464	Component	BBSome	IPI	19081074
GO:0035264	Process	Multicellular organism growth	IEA
GO:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IDA	14520415
GO:0042995	Component	Cell projection	IEA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0048560	Process	Establishment of anatomical structure orientation	IMP	14520415
GO:0050893	Process	Sensory processing	TAS	14520415
GO:0051492	Process	Regulation of stress fiber assembly	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060219	Process	Camera-type eye photoreceptor cell differentiation	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060271	Process	Cilium assembly	TAS	14520415
GO:0061326	Process	Renal tubule development	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0097730	Component	Non-motile cilium	IBA
GO:1903251	Process	Multi-ciliated epithelial cell differentiation	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

MIM	HGNC	e!Ensembl
608132	20087	ENSG00000165533

Q8TAM2

Protein name

Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet-Biedl syndrome 8 protein)

Protein function

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13176	TPR_7	320 → 353	Tetratricopeptide repeat	Repeat
PF13432	TPR_16	427 → 490		Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTE
MVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPIT
GFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRL
NLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAA
LSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQP
VTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGS
NHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEE
EAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALL
QTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAM
L

Sequence length

541

Interactions

View interactions

	Reactome
			BBSome-mediated cargo-targeting to cilium

826

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs2140977987, rs2140999630, rs771218088, rs2141033061, rs2140999501, rs2141033426, rs2141044380, rs2140976096, rs2094691095, rs1273244823, rs1271312946, rs139234943, rs587777807, rs119103286, rs2546212753 View all (13 more)	RCV001377063 RCV001377429 RCV001378356 RCV001377275 RCV001390662 RCV001388960 RCV002042538 RCV001956372 RCV001948592 RCV002033666 RCV001955745 RCV003095955 RCV000546783 RCV000203928 RCV002623277 RCV003104968 RCV003116994 RCV003031145 RCV003047464 RCV003222512 RCV003222531 RCV005240780 RCV003523194 RCV003522538 RCV003634996 RCV005101916 RCV001863105 RCV001293547
Bardet-Biedl syndrome 8	Likely pathogenic; Pathogenic	rs1273244823, rs1271312946, rs139234943, rs587777806, rs587777807, rs119103286, rs587777808, rs2546212753, rs1347407994, rs1566839401, rs2546126494, rs2094937970, rs2546169588, rs1595939517, rs1595959305, rs2094690718, rs376035653 View all (2 more)	RCV002269385 RCV005006287 RCV002262185 RCV000002637 RCV000002638 RCV000002639 RCV000002640 RCV004577961 RCV003324644 RCV005012974 RCV003990461 RCV004017210 RCV004555769 RCV000991451 RCV001175233 RCV001281111 RCV004004950
Hepatocellular carcinoma	Likely pathogenic	rs1329552995	RCV005927725
Moderate intellectual disability	Likely pathogenic; Pathogenic	rs119103286	RCV000415339
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs119103286	RCV005887213
Postaxial foot polydactyly	Likely pathogenic; Pathogenic	rs119103286	RCV000415339
Retinal dystrophy	Likely pathogenic; Pathogenic	rs139234943, rs119103286, rs587777809, rs948160026	RCV004816991 RCV001074706 RCV004794322 RCV004818285
Retinitis pigmentosa 51	Likely pathogenic; Pathogenic	rs771218088, rs2141038703, rs1271312946, rs139234943, rs119103286, rs587777809, rs948160026, rs928368462, rs2546230995, rs876661403, rs2546170566, rs2546234815, rs757429317, rs1566839401, rs1329552995 View all (19 more)	RCV004570928 RCV001591873 RCV004571678 RCV002262185 RCV001197566 RCV000002641 RCV003459776 RCV003459780 RCV003459713 RCV000223936 RCV003464746 RCV003464747 RCV003464733 RCV003464734 RCV003464735 RCV003464736 RCV003464737 RCV003464738 RCV003464739 RCV003466480 RCV003464740 RCV003464741 RCV003464742 RCV003466481 RCV003464743 RCV003464744 RCV004573795 RCV004573796 RCV004573797 RCV004573798 RCV004573799 RCV000991451 RCV001196322 RCV003462854
Truncal obesity	Likely pathogenic; Pathogenic	rs119103286	RCV000415339
TTC8-related disorder	Pathogenic; Likely pathogenic	rs2140976096, rs119103286, rs1566839401, rs1431207606	RCV004728994 RCV003415630 RCV004747298 RCV003918771

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs575952395, rs187484893	RCV005926715 RCV005893310
Leber congenital amaurosis	Uncertain significance	rs2546242910	RCV005419482
Macular dystrophy	Conflicting classifications of pathogenicity	rs140698625	RCV000787890
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	rs575952395, rs187484893	RCV005926714 RCV005893309
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs137853922, rs200113889, rs150880478, rs150896551, rs142073418, rs7145692, rs114557412, rs141304350, rs114064158, rs79747892, rs886050877, rs768485587, rs139195149, rs199649536, rs886050876 View all (27 more)	RCV000787922 RCV001117606 RCV001117608 RCV001116280 RCV001121289 RCV000362261 RCV001117605 RCV000372849 RCV000307936 RCV000359069 RCV000264168 RCV000352180 RCV000394532 RCV000300734 RCV000400851 RCV000260562 RCV000368826 RCV000293836 RCV000301896 RCV000389074 RCV000331010 RCV000291148 RCV000382846 RCV000304181 RCV000263140 RCV001117716 RCV001117718 RCV000787889 RCV001119199 RCV001119200 RCV001121198 RCV001116275 RCV001116277 RCV001116279 RCV001121290 RCV001121292 RCV001116373 RCV001116374 RCV001116377 RCV001117822 RCV001117824 RCV001119391
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs114557412	RCV005894290

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bardet Biedl Syndrome	Associate	20451172, 28761321
Breast Neoplasms	Associate	30947698
Leber Congenital Amaurosis	Associate	30416334
Neoplastic Syndromes Hereditary	Associate	30416334, 30947698
Retinal Dystrophies	Associate	30416334
Retinitis Pigmentosa	Associate	20451172, 37322672

TTC8 (tetratricopeptide repeat domain 8)