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	79738
Gene name	Bardet-Biedl syndrome 10
Gene symbol	BBS10
Synonyms (NCBI Gene)	C12orf58
Chromosome	12
Chromosome location	12q21.2
Summary	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The protei

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852837	A>C	Pathogenic	Coding sequence variant, missense variant
rs139658279	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs141521925	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs143366878	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148374859	G>C	Pathogenic	Missense variant, coding sequence variant
rs199474722	C>T	Pathogenic	Missense variant, coding sequence variant
rs202228478	T>A	Pathogenic	Stop gained, coding sequence variant
rs375413604	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs549625604	->A	Pathogenic	Coding sequence variant, frameshift variant
rs574032499	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs587777837	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs727503818	T>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs745497072	CTGT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs753604828	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs756632517	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs758522600	CTAA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs758732081	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs759185809	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs759682922	G>C,T	Likely-pathogenic	Stop gained, coding sequence variant
rs760642305	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs760693838	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761101213	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs765561672	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs768385647	G>C	Pathogenic	Coding sequence variant, stop gained
rs768933093	G>A	Pathogenic	Coding sequence variant, missense variant
rs769028262	C>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs770053320	->G	Pathogenic	Coding sequence variant, frameshift variant
rs770556842	TTAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771325212	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs773864735	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs774095109	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs775950661	CA>-	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs778431173	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs780059308	GACT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs781421232	GAT>-	Pathogenic	Inframe deletion, coding sequence variant
rs786204573	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs786204575	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs786204671	TTCT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs786204705	GAGTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs863224522	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs869025209	TTTTTGGCAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025210	->T	Pathogenic	Coding sequence variant, frameshift variant
rs869025211	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042729	C>A	Likely-pathogenic, pathogenic	Splice donor variant
rs886043841	AT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs898539189	C>A	Pathogenic	Coding sequence variant, stop gained
rs1057516240	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516266	AAAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516623	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516628	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516669	CTATT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516701	CTGTGAT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516753	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516754	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516836	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516861	CA>-,CACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516998	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517031	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517156	ATGTAAAGCATCC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057517184	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517206	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060500996	ATAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796315	C>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1156913215	G>A,C	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs1278460471	TCACAGACCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1310735399	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1340165752	A>C	Pathogenic	Coding sequence variant, stop gained
rs1356713858	A>C	Pathogenic	Stop gained, coding sequence variant
rs1389599028	AA>-,A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1460517643	A>G	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1555202546	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202562	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202572	A>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202583	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202584	G>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555202599	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202607	A>TC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202614	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202636	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202642	->GAACA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202645	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1555202654	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202656	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202657	->TC	Likely-pathogenic	Stop gained, coding sequence variant
rs1555202681	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202687	->TA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202695	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202697	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555202698	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202700	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555202717	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202731	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202737	->AATGTTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555202740	C>G	Likely-pathogenic	Splice acceptor variant
rs1555202801	GC>CT	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555202806	AACGCCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565809409	G>T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1565809478	->T	Pathogenic	Stop gained, coding sequence variant
rs1565809597	TTTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565809867	A>T	Pathogenic	Stop gained, coding sequence variant
rs1565809995	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565810301	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1592491950	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592492255	G>A	Likely-pathogenic	Stop gained, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019602	hsa-miR-340-5p	Sequencing	20371350
MIRT021120	hsa-miR-186-5p	Sequencing	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT573789	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT573788	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT573786	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT573787	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT573785	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT563283	hsa-miR-3126-3p	PAR-CLIP	20371350
MIRT563282	hsa-miR-1298-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563279	hsa-miR-7152-3p	PAR-CLIP	20371350
MIRT563280	hsa-miR-3663-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563275	hsa-miR-3149	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT573789	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT573788	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT573786	hsa-miR-6887-3p	PAR-CLIP	20371350
MIRT573787	hsa-miR-6795-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT573785	hsa-miR-6826-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT563311	hsa-miR-548a-5p	PAR-CLIP	20371350
MIRT563310	hsa-miR-548ab	PAR-CLIP	20371350
MIRT563309	hsa-miR-548ad-5p	PAR-CLIP	20371350
MIRT563308	hsa-miR-548ae-5p	PAR-CLIP	20371350
MIRT563307	hsa-miR-548ak	PAR-CLIP	20371350
MIRT563306	hsa-miR-548am-5p	PAR-CLIP	20371350
MIRT563305	hsa-miR-548ap-5p	PAR-CLIP	20371350
MIRT563304	hsa-miR-548aq-5p	PAR-CLIP	20371350
MIRT563303	hsa-miR-548ar-5p	PAR-CLIP	20371350
MIRT563302	hsa-miR-548as-5p	PAR-CLIP	20371350
MIRT563301	hsa-miR-548au-5p	PAR-CLIP	20371350
MIRT563300	hsa-miR-548ay-5p	PAR-CLIP	20371350
MIRT563299	hsa-miR-548b-5p	PAR-CLIP	20371350
MIRT563298	hsa-miR-548bb-5p	PAR-CLIP	20371350
MIRT563297	hsa-miR-548c-5p	PAR-CLIP	20371350
MIRT563296	hsa-miR-548d-5p	PAR-CLIP	20371350
MIRT563295	hsa-miR-548h-5p	PAR-CLIP	20371350
MIRT563294	hsa-miR-548i	PAR-CLIP	20371350
MIRT563293	hsa-miR-548j-5p	PAR-CLIP	20371350
MIRT563292	hsa-miR-548o-5p	PAR-CLIP	20371350
MIRT563291	hsa-miR-548w	PAR-CLIP	20371350
MIRT563290	hsa-miR-548y	PAR-CLIP	20371350
MIRT563289	hsa-miR-559	PAR-CLIP	20371350
MIRT563288	hsa-miR-548av-5p	PAR-CLIP	20371350
MIRT563287	hsa-miR-548k	PAR-CLIP	20371350
MIRT563286	hsa-miR-8054	PAR-CLIP	20371350
MIRT563285	hsa-miR-548l	PAR-CLIP	20371350
MIRT563284	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT563283	hsa-miR-3126-3p	PAR-CLIP	20371350
MIRT563282	hsa-miR-1298-3p	PAR-CLIP	20371350
MIRT563281	hsa-miR-517-5p	PAR-CLIP	20371350
MIRT563279	hsa-miR-7152-3p	PAR-CLIP	20371350
MIRT563280	hsa-miR-3663-5p	PAR-CLIP	20371350
MIRT563278	hsa-miR-889-3p	PAR-CLIP	20371350
MIRT563277	hsa-miR-4777-5p	PAR-CLIP	20371350
MIRT563276	hsa-miR-587	PAR-CLIP	20371350
MIRT563275	hsa-miR-3149	PAR-CLIP	20371350
MIRT563274	hsa-miR-375	PAR-CLIP	20371350
MIRT563273	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT816763	hsa-miR-1208	CLIP-seq
MIRT816764	hsa-miR-1225-5p	CLIP-seq
MIRT816765	hsa-miR-136	CLIP-seq
MIRT816766	hsa-miR-141	CLIP-seq
MIRT816767	hsa-miR-146a	CLIP-seq
MIRT816768	hsa-miR-146b-5p	CLIP-seq
MIRT816769	hsa-miR-200a	CLIP-seq
MIRT816770	hsa-miR-2052	CLIP-seq
MIRT816771	hsa-miR-27a	CLIP-seq
MIRT816772	hsa-miR-27b	CLIP-seq
MIRT816773	hsa-miR-3065-5p	CLIP-seq
MIRT816774	hsa-miR-3074-3p	CLIP-seq
MIRT816775	hsa-miR-3148	CLIP-seq
MIRT816776	hsa-miR-3160-3p	CLIP-seq
MIRT816777	hsa-miR-3161	CLIP-seq
MIRT816778	hsa-miR-3163	CLIP-seq
MIRT816779	hsa-miR-323-3p	CLIP-seq
MIRT816780	hsa-miR-3545-3p	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT816782	hsa-miR-3647-3p	CLIP-seq
MIRT816783	hsa-miR-3680	CLIP-seq
MIRT816784	hsa-miR-3691-3p	CLIP-seq
MIRT816785	hsa-miR-3919	CLIP-seq
MIRT816786	hsa-miR-3925-5p	CLIP-seq
MIRT816787	hsa-miR-3927	CLIP-seq
MIRT816788	hsa-miR-421	CLIP-seq
MIRT816789	hsa-miR-4272	CLIP-seq
MIRT816790	hsa-miR-4282	CLIP-seq
MIRT816791	hsa-miR-4329	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT816793	hsa-miR-452	CLIP-seq
MIRT816794	hsa-miR-4650-3p	CLIP-seq
MIRT816795	hsa-miR-4659a-3p	CLIP-seq
MIRT816796	hsa-miR-4659b-3p	CLIP-seq
MIRT816797	hsa-miR-4662a-5p	CLIP-seq
MIRT816798	hsa-miR-4668-5p	CLIP-seq
MIRT816799	hsa-miR-4676-3p	CLIP-seq
MIRT816800	hsa-miR-4704-3p	CLIP-seq
MIRT816801	hsa-miR-4711-5p	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816803	hsa-miR-4733-5p	CLIP-seq
MIRT816804	hsa-miR-4735-5p	CLIP-seq
MIRT816805	hsa-miR-4768-5p	CLIP-seq
MIRT816806	hsa-miR-4797-5p	CLIP-seq
MIRT816807	hsa-miR-4798-3p	CLIP-seq
MIRT816808	hsa-miR-4803	CLIP-seq
MIRT816809	hsa-miR-505	CLIP-seq
MIRT816810	hsa-miR-510	CLIP-seq
MIRT816811	hsa-miR-512-5p	CLIP-seq
MIRT816812	hsa-miR-513a-5p	CLIP-seq
MIRT816813	hsa-miR-548ac	CLIP-seq
MIRT816814	hsa-miR-548ae	CLIP-seq
MIRT816815	hsa-miR-548aj	CLIP-seq
MIRT816816	hsa-miR-548am	CLIP-seq
MIRT816817	hsa-miR-548c-3p	CLIP-seq
MIRT816818	hsa-miR-548d-3p	CLIP-seq
MIRT816819	hsa-miR-548m	CLIP-seq
MIRT816820	hsa-miR-548x	CLIP-seq
MIRT816821	hsa-miR-548z	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816823	hsa-miR-570	CLIP-seq
MIRT816824	hsa-miR-603	CLIP-seq
MIRT816825	hsa-miR-610	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq
MIRT816763	hsa-miR-1208	CLIP-seq
MIRT816764	hsa-miR-1225-5p	CLIP-seq
MIRT816765	hsa-miR-136	CLIP-seq
MIRT1941540	hsa-miR-151-3p	CLIP-seq
MIRT816770	hsa-miR-2052	CLIP-seq
MIRT816771	hsa-miR-27a	CLIP-seq
MIRT816772	hsa-miR-27b	CLIP-seq
MIRT1941541	hsa-miR-3685	CLIP-seq
MIRT1941542	hsa-miR-384	CLIP-seq
MIRT1941543	hsa-miR-411	CLIP-seq
MIRT1941544	hsa-miR-4463	CLIP-seq
MIRT1941545	hsa-miR-4499	CLIP-seq
MIRT816793	hsa-miR-452	CLIP-seq
MIRT816795	hsa-miR-4659a-3p	CLIP-seq
MIRT816796	hsa-miR-4659b-3p	CLIP-seq
MIRT816799	hsa-miR-4676-3p	CLIP-seq
MIRT816800	hsa-miR-4704-3p	CLIP-seq
MIRT816803	hsa-miR-4733-5p	CLIP-seq
MIRT816812	hsa-miR-513a-5p	CLIP-seq
MIRT1941546	hsa-miR-562	CLIP-seq
MIRT816776	hsa-miR-3160-3p	CLIP-seq
MIRT816791	hsa-miR-4329	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT2483645	hsa-miR-3646	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT2483646	hsa-miR-4517	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq
MIRT816781	hsa-miR-3545-5p	CLIP-seq
MIRT2483645	hsa-miR-3646	CLIP-seq
MIRT816792	hsa-miR-4424	CLIP-seq
MIRT2483646	hsa-miR-4517	CLIP-seq
MIRT816802	hsa-miR-4717-3p	CLIP-seq
MIRT816822	hsa-miR-561	CLIP-seq
MIRT816826	hsa-miR-659	CLIP-seq
MIRT816827	hsa-miR-890	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	20080638, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009416	Process	Response to light stimulus	IEA
GO:0019228	Process	Neuronal action potential	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0042670	Process	Retinal cone cell differentiation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043254	Process	Regulation of protein-containing complex assembly	IMP	22500027
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	17980398
GO:0046530	Process	Photoreceptor cell differentiation	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IBA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IEA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IMP	20080638
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1904390	Process	Cone retinal bipolar cell differentiation	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	17980398

MIM	HGNC	e!Ensembl
610148	26291	ENSG00000179941

Q8TAM1

Protein name

BBSome complex assembly protein BBS10 (Bardet-Biedl syndrome 10 protein)

Protein function

Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). In

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00118	Cpn60_TCP1	21 → 109	TCP-1/cpn60 chaperonin family	Family
PF00118	Cpn60_TCP1	137 → 430	TCP-1/cpn60 chaperonin family	Family

Sequence

MLSSMAAAGSVKAALQVAEVLEAIVSCCVGPEGRQVLCTKPTGEVLLSRNGGRLLEALHL
EHPIARMIVDCVSSHLKKTGDGAKTFIIFLCHLLRGLHAITDREKDPLMCENIQTHGRHW
KNCSRWKFISQALLTFQTQILDGIMDQYLSRHFLSIFSSAKERTLCRSSLELLLEAYFCG
RVGRNNHKFISQLMCDYFFKCMTCKSGIGVFELVDDHFVELNVGVTGLPVSDSRIIAGLV
LQKDFSVYRPADGDMRMVIVTETIQPLFSTSGSEFILNSEAQFQTSQFWIMEKTKAIMKH
LHSQNVKLLISSVKQPDLVSYYAGVNGISVVECLSSEEVSLIRRIIGLSPFVPPQAFSQC
EIPNTALVKFCKPLILRSKRYVHLGLISTCAFIPHSIVLCGPVHGLIEQHEDALHGALKM
LRQLFKDLDLNYMTQTNDQNGTSSLFIYKNSGESYQAPDPGNGSIQRPYQDTVAENKDAL
EKTQTYLKVHSNLVIPDVELETYIPYSTPTLTPTDTFQTVETLTCLSLERNRLTDYYEPL
LKNNSTAYSTRGNRIEISYENLQVTNITRKGSMLPVSCKLPNMGTSQSYLSSSMPAGCVL
PVGGNFEILLHYYLLNYAKKCHQSEETMVSMIIANALLGIPKVLYKSKTGKYSFPHTYIR
AVHALQTNQPLVSSQTGLESVMGKYQLLTSVLQCLTKILTIDMVITVKRHPQKVHNQDSE
DEL

Sequence length

723

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Asphyxiating thoracic dystrophy 3	Pathogenic	rs758522600	RCV000256445	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs1951764875, rs778731343, rs2136090024, rs2136091120, rs199998327, rs2136091240, rs2136091633, rs2136091654, rs760693838, rs1472533012, rs2136089877, rs2136090624, rs2136090739, rs2136090423, rs1951755742 View all (129 more)	RCV001319159 RCV002546463 RCV001386811 RCV001383308 RCV001381069 View all (145 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic; Likely pathogenic	rs549625604, rs727503818, rs768933093, rs148374859, rs1460517643, rs1592492255, rs778431173	RCV000709625 RCV001004383 RCV003228914 RCV003228900 RCV000625185 RCV001004384 RCV003229015 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-biedl syndrome 1/10, digenic	Pathogenic	rs780059308	RCV002508143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 10	Likely pathogenic; Pathogenic	rs1230692815, rs778731343, rs2136090024, rs2136091654, rs760693838, rs1472533012, rs1555202662, rs1389599028, rs1191479533, rs2136091244, rs1476664656, rs775090151, rs549625604, rs137852837, rs2540956687 View all (131 more)	RCV005002003 RCV001331336 RCV005005237 RCV001535981 RCV001580638 View all (147 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-biedl syndrome 6/10, digenic	Pathogenic	rs549625604	RCV000144680	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BBS10-related disorder	Pathogenic; Likely pathogenic	rs2136091166, rs549625604, rs770556842, rs786204575, rs786204671, rs761101213, rs768933093, rs886043841, rs375413604, rs780059308, rs1555202584, rs759185809, rs1565809478, rs778431173	RCV003408005 RCV003407252 RCV003927566 RCV003390883 RCV004739550 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs1230692815, rs2136090243, rs549625604, rs137852837, rs768933093, rs148374859, rs775950661, rs375413604, rs1555202584, rs760693838	RCV004815330 RCV004816806 RCV001074512 RCV004814790 RCV001075496 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Pathogenic; Likely pathogenic	rs549625604, rs756632517	RCV000504690 RCV000504949	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
BBS10-related ciliopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY OF TOES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALDINO-NOONAN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULNAR POLYDACTYLY OF FINGERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	Pubtator	39596324	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asphyxiating Thoracic Dystrophy 1	Asphyxiating Thoracic Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	16582908, 17106446, 17980398, 20080638, 20805367, 22500027, 23219996, 23403234, 24849935, 25439097, 28143435, 30312873, 31639430		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	16582908, 17106446, 17980398, 19190184, 20177705, 20472660, 20498079, 20805367, 21044901, 21052717, 21157496, 21209035, 22353939, 22410627, 22773737 View all (12 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	17101080		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	ORPHANET_DG	23219996, 23403234		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 10	Bardet-Biedl Syndrome	UNIPROT_DG	16582908, 16823392, 20080638, 20120035, 21344540, 23219996, 28808579		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 10	Bardet-Biedl Syndrome	CLINVAR_DG	16582908, 17106446, 20080638, 20120035, 20177705, 20472660, 20498079, 20805367, 20876674, 21044901, 21052717, 21157496, 21209035, 21344540, 21463199 View all (22 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 10	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	16582908		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 10	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast Neoplasms	Breast neoplasm	Pubtator	29954368, 30947698	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathy	Pubtator	35764379, 39596324	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone Dystrophy	Cone dystrophy	Pubtator	34940782, 37031301	Associate	★★★★★ ★☆☆☆☆ 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
Cystic kidney	Cystic Kidney Disease	BEFREE	20805367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25439097		★★★★★ ★☆☆☆☆ 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
Hearing Loss, High-Frequency	Hearing Loss	CLINVAR_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
Hypogonadism	Hypogonadism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26082521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21209035	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	20876674, 28143435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10874630, 11179009, 11567139, 16582908, 16823392, 17980398, 20080638, 20120035, 20177705, 20498079, 20805367, 20876674, 21209035, 21344540, 21642631, 22353939, 22713813 View all (2 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	16582908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21209035, 30335236	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25439097		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	20805367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Postaxial foot polydactyly	Foot Polydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	28143435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	34940782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	16582908		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	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	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	26082521		★★★★★ ★☆☆☆☆ Found in Text Mining only

BBS10 (Bardet-Biedl syndrome 10)