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

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 (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma	Likely pathogenic	rs1329552995	RCV005927725	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Likely pathogenic; Pathogenic	rs119103286	RCV000415339	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs119103286	RCV005887213	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial foot polydactyly	Likely pathogenic; Pathogenic	rs119103286	RCV000415339	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs139234943, rs119103286, rs587777809, rs948160026	RCV004816991 RCV001074706 RCV004794322 RCV004818285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Truncal obesity	Likely pathogenic; Pathogenic	rs119103286	RCV000415339	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TTC8-related disorder	Pathogenic; Likely pathogenic	rs2140976096, rs119103286, rs1566839401, rs1431207606	RCV004728994 RCV003415630 RCV004747298 RCV003918771	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (17)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leber congenital amaurosis	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIMITED SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY AFFECTING THE 5TH TOE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	ClinVar ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet ClinVar, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (58)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	14520415, 16308660, 19402160, 21646512		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	14520415		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	20451172		★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 8	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	14520415, 19402160		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 8	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 8	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	31072410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	30416334	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	19402160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Retinitis Pigmentosa	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	20451172		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	20451172, 37322672	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 51	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	20451172		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 51	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RETINITIS PIGMENTOSA 51	Retinitis Pigmentosa	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

TTC8 (tetratricopeptide repeat domain 8)