BBS1 (Bardet-Biedl syndrome 1)

Gene

• Entrez ID: 582
• Gene name: Bardet-Biedl syndrome 1
• Gene symbol: BBS1
• Synonyms (NCBI Gene): BBS2L2
• Chromosome: 11
• Chromosome location: 11q13.2
• Summary: Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113994178	AAGATGGCCGCTGCGTCCTCATCGGATTCCGACGCCTGCG>-	Pathogenic	5 prime UTR variant, frameshift variant, initiator codon variant
rs146052054	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200688985	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs376894444	G>A	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs587777829	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs751753112	G>A,T	Likely-pathogenic	Splice acceptor variant
rs764245266	A>C	Likely-pathogenic	Splice acceptor variant
rs771517209	G>A	Likely-pathogenic	Splice donor variant
rs772917364	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs786204444	C>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs869025204	C>G,T	Pathogenic	Intron variant
rs878855095	G>A	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs1057516449	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant
rs1057516451	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516502	A>G	Likely-pathogenic	Splice acceptor variant
rs1057516507	T>A	Likely-pathogenic	Splice donor variant
rs1057516933	G>C	Likely-pathogenic	Splice acceptor variant
rs1057517007	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1166022838	->C	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1182864166	T>C,G	Likely-pathogenic	Splice donor variant
rs1306821707	A>C,G,T	Likely-pathogenic	Initiator codon variant, missense variant
rs1313590454	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1353098253	T>G	Likely-pathogenic	Splice donor variant
rs1490351829	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555046611	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs1555046748	A>G	Likely-pathogenic	Splice acceptor variant
rs1555047409	GTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590753968	G>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT626384	hsa-miR-3692-5p	HITS-CLIP	23824327
MIRT626383	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT626382	hsa-miR-5002-3p	HITS-CLIP	23824327
MIRT626381	hsa-miR-4731-5p	HITS-CLIP	23824327
MIRT626380	hsa-miR-5589-5p	HITS-CLIP	23824327
MIRT626379	hsa-miR-197-5p	HITS-CLIP	23824327
MIRT626378	hsa-miR-3132	HITS-CLIP	23824327
MIRT626377	hsa-miR-134-5p	HITS-CLIP	23824327
MIRT626376	hsa-miR-3118	HITS-CLIP	23824327
MIRT626375	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT626374	hsa-miR-1229-5p	HITS-CLIP	23824327
MIRT816828	hsa-miR-1265	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT816834	hsa-miR-2861	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT816837	hsa-miR-3150a-3p	CLIP-seq
MIRT816838	hsa-miR-3154	CLIP-seq
MIRT816839	hsa-miR-3175	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816841	hsa-miR-3668	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT816844	hsa-miR-3919	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT816846	hsa-miR-3942-3p	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT816848	hsa-miR-4437	CLIP-seq
MIRT816849	hsa-miR-4505	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT816852	hsa-miR-4667-5p	CLIP-seq
MIRT816853	hsa-miR-4674	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT816855	hsa-miR-4700-5p	CLIP-seq
MIRT816856	hsa-miR-4756-3p	CLIP-seq
MIRT816857	hsa-miR-4761-3p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT816862	hsa-miR-665	CLIP-seq
MIRT816863	hsa-miR-767-3p	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT816834	hsa-miR-2861	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT816849	hsa-miR-4505	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT1941547	hsa-miR-670	CLIP-seq
MIRT816863	hsa-miR-767-3p	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2180278	hsa-miR-125a-3p	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT2180281	hsa-miR-1909	CLIP-seq
MIRT2180282	hsa-miR-27a	CLIP-seq
MIRT2180283	hsa-miR-27b	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT2180285	hsa-miR-3126-5p	CLIP-seq
MIRT2180286	hsa-miR-3127-3p	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2180289	hsa-miR-3934	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2180295	hsa-miR-4277	CLIP-seq
MIRT2180296	hsa-miR-4292	CLIP-seq
MIRT2180297	hsa-miR-4308	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2180299	hsa-miR-4419a	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2180304	hsa-miR-4510	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT2180306	hsa-miR-4640-3p	CLIP-seq
MIRT2180307	hsa-miR-4660	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2180311	hsa-miR-513a-5p	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180315	hsa-miR-646	CLIP-seq
MIRT2180316	hsa-miR-654-3p	CLIP-seq
MIRT1941547	hsa-miR-670	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT2180318	hsa-miR-764	CLIP-seq
MIRT816829	hsa-miR-134	CLIP-seq
MIRT816840	hsa-miR-3545-3p	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2444649	hsa-miR-1264	CLIP-seq
MIRT816844	hsa-miR-3919	CLIP-seq
MIRT816846	hsa-miR-3942-3p	CLIP-seq
MIRT816856	hsa-miR-4756-3p	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2483647	hsa-miR-1226	CLIP-seq
MIRT2483648	hsa-miR-1229	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT2483649	hsa-miR-1291	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT2483650	hsa-miR-1976	CLIP-seq
MIRT2483651	hsa-miR-216a	CLIP-seq
MIRT2483652	hsa-miR-2467-5p	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT2483653	hsa-miR-28-5p	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT2483654	hsa-miR-3124-3p	CLIP-seq
MIRT2483655	hsa-miR-3135b	CLIP-seq
MIRT2483656	hsa-miR-3139	CLIP-seq
MIRT2483657	hsa-miR-3150b-3p	CLIP-seq
MIRT2483658	hsa-miR-3151	CLIP-seq
MIRT2483659	hsa-miR-3160-5p	CLIP-seq
MIRT2483660	hsa-miR-3183	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT2483661	hsa-miR-324-5p	CLIP-seq
MIRT2483662	hsa-miR-328	CLIP-seq
MIRT2483663	hsa-miR-339-5p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2483664	hsa-miR-3652	CLIP-seq
MIRT2483665	hsa-miR-3667-3p	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT2483666	hsa-miR-378g	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2483667	hsa-miR-4266	CLIP-seq
MIRT2483668	hsa-miR-4267	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2483669	hsa-miR-4283	CLIP-seq
MIRT2483670	hsa-miR-4297	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2483671	hsa-miR-4314	CLIP-seq
MIRT2483672	hsa-miR-4417	CLIP-seq
MIRT2483673	hsa-miR-4428	CLIP-seq
MIRT2483674	hsa-miR-4430	CLIP-seq
MIRT2483675	hsa-miR-4433	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2483676	hsa-miR-4459	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2483677	hsa-miR-4466	CLIP-seq
MIRT2483678	hsa-miR-4481	CLIP-seq
MIRT2483679	hsa-miR-4486	CLIP-seq
MIRT2483680	hsa-miR-4489	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2483681	hsa-miR-451b	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT2483682	hsa-miR-4656	CLIP-seq
MIRT2483683	hsa-miR-4675	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT2483684	hsa-miR-4685-5p	CLIP-seq
MIRT2483685	hsa-miR-4690-3p	CLIP-seq
MIRT2483686	hsa-miR-4695-5p	CLIP-seq
MIRT2483687	hsa-miR-4707-3p	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2483688	hsa-miR-4723-3p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2483689	hsa-miR-4741	CLIP-seq
MIRT2483690	hsa-miR-4745-5p	CLIP-seq
MIRT2483691	hsa-miR-4758-5p	CLIP-seq
MIRT2483692	hsa-miR-4768-3p	CLIP-seq
MIRT2483693	hsa-miR-4784	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2483694	hsa-miR-508-5p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT2483695	hsa-miR-548q	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT2483696	hsa-miR-610	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180315	hsa-miR-646	CLIP-seq
MIRT2483697	hsa-miR-651	CLIP-seq
MIRT2483698	hsa-miR-675	CLIP-seq
MIRT2483699	hsa-miR-708	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq
MIRT2180276	hsa-miR-1184	CLIP-seq
MIRT2180277	hsa-miR-1206	CLIP-seq
MIRT2483648	hsa-miR-1229	CLIP-seq
MIRT2180279	hsa-miR-1285	CLIP-seq
MIRT2483649	hsa-miR-1291	CLIP-seq
MIRT816830	hsa-miR-1343	CLIP-seq
MIRT2180280	hsa-miR-140-5p	CLIP-seq
MIRT2675877	hsa-miR-150	CLIP-seq
MIRT816831	hsa-miR-1587	CLIP-seq
MIRT816832	hsa-miR-185	CLIP-seq
MIRT2483650	hsa-miR-1976	CLIP-seq
MIRT816833	hsa-miR-28-3p	CLIP-seq
MIRT2180284	hsa-miR-3074-3p	CLIP-seq
MIRT816835	hsa-miR-3074-5p	CLIP-seq
MIRT816836	hsa-miR-3123	CLIP-seq
MIRT2483654	hsa-miR-3124-3p	CLIP-seq
MIRT2483657	hsa-miR-3150b-3p	CLIP-seq
MIRT2483659	hsa-miR-3160-5p	CLIP-seq
MIRT2483660	hsa-miR-3183	CLIP-seq
MIRT2180287	hsa-miR-3187-5p	CLIP-seq
MIRT2675878	hsa-miR-323-3p	CLIP-seq
MIRT2483661	hsa-miR-324-5p	CLIP-seq
MIRT2483662	hsa-miR-328	CLIP-seq
MIRT2483663	hsa-miR-339-5p	CLIP-seq
MIRT2180288	hsa-miR-3545-5p	CLIP-seq
MIRT2483665	hsa-miR-3667-3p	CLIP-seq
MIRT816842	hsa-miR-3692	CLIP-seq
MIRT816843	hsa-miR-370	CLIP-seq
MIRT2483666	hsa-miR-378g	CLIP-seq
MIRT816845	hsa-miR-3925-5p	CLIP-seq
MIRT2180290	hsa-miR-3945	CLIP-seq
MIRT2675879	hsa-miR-410	CLIP-seq
MIRT2180291	hsa-miR-421	CLIP-seq
MIRT2180292	hsa-miR-425	CLIP-seq
MIRT2180293	hsa-miR-4253	CLIP-seq
MIRT2180294	hsa-miR-4270	CLIP-seq
MIRT2180296	hsa-miR-4292	CLIP-seq
MIRT2483670	hsa-miR-4297	CLIP-seq
MIRT816847	hsa-miR-4306	CLIP-seq
MIRT2180298	hsa-miR-4311	CLIP-seq
MIRT2483671	hsa-miR-4314	CLIP-seq
MIRT2483672	hsa-miR-4417	CLIP-seq
MIRT2483673	hsa-miR-4428	CLIP-seq
MIRT2483675	hsa-miR-4433	CLIP-seq
MIRT2180300	hsa-miR-4441	CLIP-seq
MIRT2483676	hsa-miR-4459	CLIP-seq
MIRT2180301	hsa-miR-4460	CLIP-seq
MIRT2483677	hsa-miR-4466	CLIP-seq
MIRT2483678	hsa-miR-4481	CLIP-seq
MIRT2483679	hsa-miR-4486	CLIP-seq
MIRT2180302	hsa-miR-4492	CLIP-seq
MIRT2180303	hsa-miR-4498	CLIP-seq
MIRT2675880	hsa-miR-4501	CLIP-seq
MIRT2483681	hsa-miR-451b	CLIP-seq
MIRT816850	hsa-miR-452	CLIP-seq
MIRT2675881	hsa-miR-4528	CLIP-seq
MIRT2180305	hsa-miR-4536	CLIP-seq
MIRT816851	hsa-miR-4644	CLIP-seq
MIRT2483682	hsa-miR-4656	CLIP-seq
MIRT2483683	hsa-miR-4675	CLIP-seq
MIRT816854	hsa-miR-4676-3p	CLIP-seq
MIRT2483684	hsa-miR-4685-5p	CLIP-seq
MIRT2483685	hsa-miR-4690-3p	CLIP-seq
MIRT2483687	hsa-miR-4707-3p	CLIP-seq
MIRT2180308	hsa-miR-4709-5p	CLIP-seq
MIRT2675882	hsa-miR-4713-5p	CLIP-seq
MIRT2483688	hsa-miR-4723-3p	CLIP-seq
MIRT2180309	hsa-miR-4727-3p	CLIP-seq
MIRT2483689	hsa-miR-4741	CLIP-seq
MIRT2483690	hsa-miR-4745-5p	CLIP-seq
MIRT2483691	hsa-miR-4758-5p	CLIP-seq
MIRT2483692	hsa-miR-4768-3p	CLIP-seq
MIRT2483693	hsa-miR-4784	CLIP-seq
MIRT2180310	hsa-miR-505	CLIP-seq
MIRT2483694	hsa-miR-508-5p	CLIP-seq
MIRT816858	hsa-miR-520d-5p	CLIP-seq
MIRT816859	hsa-miR-524-5p	CLIP-seq
MIRT2675883	hsa-miR-532-3p	CLIP-seq
MIRT816860	hsa-miR-548g	CLIP-seq
MIRT2483695	hsa-miR-548q	CLIP-seq
MIRT2180312	hsa-miR-549	CLIP-seq
MIRT2180313	hsa-miR-564	CLIP-seq
MIRT816861	hsa-miR-578	CLIP-seq
MIRT2483696	hsa-miR-610	CLIP-seq
MIRT2180314	hsa-miR-612	CLIP-seq
MIRT2180316	hsa-miR-654-3p	CLIP-seq
MIRT2483698	hsa-miR-675	CLIP-seq
MIRT2180317	hsa-miR-762	CLIP-seq
MIRT816864	hsa-miR-892a	CLIP-seq
MIRT816865	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001895	Process	Retina homeostasis	IEA
GO:0001895	Process	Retina homeostasis	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005113	Function	Patched binding	IBA
GO:0005113	Function	Patched binding	IPI	22228099
GO:0005119	Function	Smoothened binding	IBA
GO:0005119	Function	Smoothened binding	IPI	22228099
GO:0005515	Function	Protein binding	IPI	16327777, 17574030, 18000879, 18762586, 19081074, 19150989, 20080638, 20603001, 22139371, 22500027, 24939912, 25402481, 25552655, 27173435, 29039417, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	18762586
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	IEA
GO:0005930	Component	Axoneme	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0007608	Process	Sensory perception of smell	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008594	Process	Photoreceptor cell morphogenesis	IEA
GO:0009566	Process	Fertilization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0021756	Process	Striatum development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0031514	Component	Motile cilium	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:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0042048	Process	Olfactory behavior	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	19150989
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	17980398
GO:0048854	Process	Brain morphogenesis	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051219	Function	Phosphoprotein binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	17574030
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061512	Process	Protein localization to cilium	IBA
GO:0061512	Process	Protein localization to cilium	IMP	23943788
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:1905515	Process	Non-motile cilium assembly	IMP	17980398

Other IDs

• MIM: 209901
• HGNC: 966
• e!Ensembl: ENSG00000174483

Protein

• UniProt ID: Q8NFJ9
• Protein name: BBSome complex member BBS1 (BBS2-like protein 2) (Bardet-Biedl syndrome 1 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
• PDB: 6XT9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14779	BBS1	23 → 276	Ciliary BBSome complex subunit 1	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.
• Sequence:

  MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLG
  PGGQQPRLKVLKGPLVMTESPLPALPAAAATFLMEQHEPRTPALALASGPCVYVYKNLRP
  YFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
  EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILA
  KMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRRDSKHPKYCIELSAQPVGLIRVHK
  VLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
  KALLNVIHTPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGGSEVGPPPA
  QAMKLNVPRKTRLYVDQTLREREAGTAMHRAFQTDLYLLRLRAARAYLQALESSLSPLST
  TAREPLKLHAVVQGLGPTFKLTLHLQNTSTTRPVLGLLVCFLYNEALYSLPRAFFKVPLL
  VPGLNYPLETFVESLSNKGISDIIKVLVLREGQSAPLLSAHVNMPGSEGLAAA

• Sequence length: 593

Pathways

Reactome:

BBSome-mediated cargo-targeting to cilium

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs1855937296, rs769820955, rs2134771570, rs2134771631, rs1856209517, rs2134797289, rs1856520165, rs1856788934, rs777143614, rs751753112, rs1475257145, rs1166459319, rs2134841394, rs2134780429, rs1434577015, rs2134836723, rs2134836882, rs2134836650, rs2134797993, rs1348187150, rs1306821707, rs2134837160, rs786204444, rs786204701, rs768443448, rs2495780320, rs777765120, rs794727006, rs2495802280, rs1222159281, rs2495779741, rs2495736089, rs1565286223, rs2495728996, rs1426746606, rs2495830435, rs1590766771, rs2495752844, rs1855918305, rs2495795815, rs863224782, rs869025205, rs370132070, rs2495752994, rs878855095, rs886039798, rs113624356, rs121917777, rs587777829, rs587777830, rs942862410, rs1295318869, rs2495739867, rs1856209722, rs2495752615, rs2495736709, rs2495776917, rs764245266, rs2495760139, rs2495800494, rs1565287512, rs2495728234, rs766218865, rs2495830212, rs2495760621, rs2495830146, rs2495736635, rs2495736716, rs2495741498, rs2495830848, rs2495847870, rs1311699085, rs1416464603, rs1856035514, rs113994178, rs1057516449, rs1057516451, rs376894444, rs1057517332, rs1057516427, rs1057517143, rs746875134, rs1057516661, rs1057516371, rs1057516533, rs775769424, rs773632109, rs1060503690, rs1166022838, rs1555049194, rs1555047409, rs200116631, rs748523268, rs1555050427, rs1014835928, rs1313590454, rs1555046611, rs1555049893, rs1555050404, rs1353098253, rs183771956, rs1565289799, rs1160669210, rs1486200900, rs1565291081, rs772917364, rs1565287921, rs762276925, rs745656125, rs1490351829, rs1590762360, rs778850233, rs138744839, rs761969357, rs1856202628, rs1856699646, rs1856346961, rs1856141939, rs1855932012, rs1012901050, rs1856011993, rs1856010064, rs1856517666, rs1856785950, rs1856035426, rs1856011738	RCV002670834 RCV001340368 RCV001387771 RCV001383137 RCV001388588 RCV001381582 RCV001388071 RCV001390868 RCV003222339 RCV001882796 RCV003523108 RCV001900483 RCV001980127 RCV001963048 RCV002029113 RCV002007222 RCV002035351 RCV001985950 RCV002036324 RCV002045926 RCV001953605 RCV001962560 RCV000169066 RCV000169515 RCV000169362 RCV003062412 RCV003080656 RCV001852117 RCV002774857 RCV002770915 RCV002796945 RCV002814454 RCV002838247 RCV002853300 RCV002866470 RCV002881244 RCV002900622 RCV002872427 RCV002923444 RCV002953660 RCV000198771 RCV001225677 RCV003026148 RCV003019265 RCV000230074 RCV000256414 RCV000174408 RCV000169202 RCV000169013 RCV000780955 RCV003388220 RCV003523195 RCV003523992 RCV003523980 RCV003523961 RCV003524207 RCV003525327 RCV003523633 RCV003523791 RCV003524471 RCV003524763 RCV003524841 RCV003524709 RCV003634748 RCV003635010 RCV003635041 RCV003635033 RCV003635117 RCV003635227 RCV003635246 RCV003635373 RCV003633048 RCV003633127 RCV003871398 RCV000020906 RCV001377426 RCV003522961 RCV001237365 RCV001387773 RCV000410589 RCV002523851 RCV001239133 RCV000735921 RCV001850947 RCV001865261 RCV000411561 RCV001380944 RCV001383772 RCV000466299 RCV000470099 RCV001381854 RCV000638373 RCV000638357 RCV001861753 RCV001377611 RCV003222093 RCV001060606 RCV002531301 RCV001049362 RCV003523008 RCV003523009 RCV001855530 RCV001868212 RCV001377153 RCV003633533 RCV000735916 RCV000735917 RCV000735918 RCV000735919 RCV001862123 RCV000782273 RCV000782274 RCV000787532 RCV000804705 RCV001247808 RCV001002873 RCV001045107 RCV001056484 RCV001035665 RCV001862504 RCV003523058 RCV002555443 RCV001224979 RCV001213515 RCV001213374 RCV001209548 RCV001235230 RCV001241641 RCV001244810 RCV001246287 RCV001242050 RCV005057180	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic; Likely pathogenic	rs746875134, rs769820955, rs2134771570, rs1856520165, rs751753112, rs2134784600, rs1475257145, rs2134765690, rs1166459319, rs2134780429, rs1434577015, rs1348187150, rs1306821707, rs2134837160, rs2495779138, rs2495779544, rs2495800891, rs1445972147, rs2495801307, rs2495739801, rs2495759836, rs786204444, rs768443448, rs777765120, rs794727006, rs1222159281, rs2495830435, rs1855918305, rs863224782, rs869025204, rs869025205, rs2495752994, rs878855095, rs113624356, rs121917777, rs587777829, rs587777830, rs200335137, rs2495741505, rs2495776834, rs2495728066, rs2495800506, rs1295318869, rs2495741578, rs2495726324, rs1590766771, rs2495779682, rs1182864166, rs2495752615, rs1311699085, rs2495728074, rs1223395982, rs2495760531, rs764245266, rs1057516449, rs1057516507, rs1057517007, rs1057516451, rs376894444, rs1057516933, rs1057516502, rs1057516330, rs1057517332, rs1057516427, rs1057517143, rs1057516661, rs1057516371, rs1057516533, rs1057516901, rs775769424, rs773632109, rs1060503690, rs1166022838, rs1555048487, rs1555047786, rs1555047409, rs200116631, rs1555046748, rs771517209, rs748523268, rs1555050394, rs1555050427, rs1014835928, rs1555049933, rs1450045618, rs1313590454, rs1555046611, rs1555049893, rs1555050268, rs1555050404, rs1353098253, rs183771956, rs1565289799, rs1160669210, rs1565286202, rs762276925, rs745656125, rs1490351829, rs1590772920, rs1590762360, rs1856758582, rs778850233, rs761969357, rs1856790811, rs1856202628, rs1856010874, rs1856209722, rs1856346961, rs1855932012, rs1012901050, rs1856010064, rs1856035426, rs1855932058, rs1856007963, rs1856011738, rs35520756, rs1856354695, rs1856358703, rs1021331909, rs1421044140	RCV001329988 RCV004570814 RCV003463020 RCV005050371 RCV001730053 RCV001730054 RCV001780997 RCV001823857 RCV005050433 RCV003464322 RCV003138033 RCV003464390 RCV005050484 RCV003464263 RCV002306786 RCV002309715 RCV002309953 RCV002308058 RCV002308326 RCV002307115 RCV002310140 RCV001272374 RCV000984149 RCV005930494 RCV002500463 RCV005635618 RCV004584235 RCV005050662 RCV001542479 RCV000207828 RCV000207577 RCV003459699 RCV000778336 RCV000012926 RCV000012927 RCV000012928 RCV000012929 RCV003465010 RCV003465011 RCV003465012 RCV003465014 RCV003465015 RCV003465016 RCV003465017 RCV003465019 RCV003465020 RCV003465022 RCV003465023 RCV003465024 RCV004584237 RCV005051359 RCV004573992 RCV004573993 RCV004573994 RCV000409451 RCV000411354 RCV000410043 RCV000410530 RCV000412002 RCV000411434 RCV000409654 RCV000411894 RCV000409955 RCV000709658 RCV000411176 RCV000410229 RCV000410778 RCV000410767 RCV000410213 RCV000709659 RCV000408994 RCV000410181 RCV000411939 RCV000984148 RCV000984150 RCV000503709 RCV000674877 RCV000625559 RCV005049628 RCV002483815 RCV000666501 RCV000673570 RCV000675034 RCV000667863 RCV000667597 RCV000674900 RCV000673043 RCV000667051 RCV000669045 RCV000674193 RCV000668745 RCV000671952 RCV000671467 RCV000669016 RCV000672587 RCV000670168 RCV000671318 RCV000669884 RCV000666424 RCV000668784 RCV000678523 RCV003106027 RCV000761258 RCV005606710 RCV001273360 RCV000988579 RCV000988581 RCV005633800 RCV002481807 RCV003461466 RCV001832373 RCV003462629 RCV005049763 RCV001175185 RCV001175184 RCV001175186 RCV005049792 RCV003462716 RCV002491758 RCV005050312 RCV003462818 RCV001263833 RCV001263834 RCV001263835 RCV001263836 RCV001264002 RCV001264003 RCV001264004 RCV001264005	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS1-related disorder	Likely pathogenic; Pathogenic	rs2134836650, rs1348187150, rs786204444, rs768443448, rs777765120, rs878855095, rs113624356, rs121917777, rs587777829, rs587777830, rs376894444, rs1057517143, rs775769424, rs183771956, rs1490351829, rs1856202628, rs1856209722	RCV004729009 RCV004744211 RCV003398862 RCV004742303 RCV004744587 RCV004742345 RCV003390672 RCV003934827 RCV004742225 RCV003914829 RCV003922662 RCV003409566 RCV003902454 RCV004723052 RCV004743242 RCV003405292 RCV004726919	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast	Likely pathogenic	rs200335137	RCV005927728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic	rs200335137	RCV005927730	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal disorder	Likely pathogenic; Pathogenic	rs113624356	RCV006272250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs751753112, rs786204444, rs786204701, rs794727006, rs113624356, rs2495739948, rs1057516451, rs376894444, rs746875134, rs1166022838, rs772917364, rs745656125, rs1856478505, rs1856787758, rs1856790811, rs1856202628, rs1856699646	RCV004815608 RCV004815258 RCV004815261 RCV001075229 RCV000210319 RCV003889602 RCV001073741 RCV001074216 RCV004816633 RCV001075560 RCV004817985 RCV004818039 RCV001075803 RCV001073740 RCV001073857 RCV001073554 RCV001074148	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1856699646, rs777765120, rs113624356, rs121917777, rs376894444, rs1555050487, rs1555048487, rs1555049194, rs1160669210, rs762276925, rs1856758582	RCV001724834 RCV005419565 RCV000504693 RCV001723562 RCV000504813 RCV000505145 RCV001199648 RCV001199646 RCV001724144 RCV000787786 RCV001199431	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe early-childhood-onset retinal dystrophy	Likely pathogenic; Pathogenic	rs113624356	RCV005621849	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs200335137	RCV005927729	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Usher syndrome	Likely pathogenic; Pathogenic	rs113624356	RCV000787785	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 1/7, digenic	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BBS1-related ciliopathy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
concomitant exotropia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Albinism	Albinism	Pubtator	39596324	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia of Phonation	Apraxia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Asperger Syndrome	Asperger syndrome	Pubtator	22940089	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22940089	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	10973251, 11050632, 12016587, 12118255, 12524598, 12677556, 12872256, 15266619, 15666242, 16823392, 17065520, 17980398, 18669544, 18766993, 21209035, 21520335, 22940089, 23143442, 23554981, 23559858, 25402481, 25494902, 25533820, 26082521, 26518167, 27434533, 28624958, 29603519, 30142598, 30484961, 30839500, 31216194, 9888993		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	12118255, 12524598, 12677556, 12837689, 12920096, 15314642, 15770229, 16327777, 17980398, 18032602, 18327255, 18669544, 18766993, 20177705, 20498079, 20876674, 21052717, 21517826, 21642631, 22410627, 22581970, 22940089, 23143442, 23432027, 26518167, 27032803, 28224992, 30614526, 30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	12567324		★★★★★ 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	BEFREE	10564830, 10577921, 15517396, 17065520		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	11567139, 12118255, 12524598		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG	12118255, 12524598, 12677556, 12920096, 15770229, 18032602, 19797195, 20120035, 20177705, 20498079, 20876674, 21052717, 21344540, 21517826, 21520335, 21642631, 22353939, 22410627, 22581970, 22773737, 22940089, 23143442, 23565731, 23943788, 25170860, 26261414, 26518167, 27659767, 28143435		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	UNIPROT_DG	12118255, 12524598, 12567324, 12677556, 12920096, 15770229, 21052717, 21344540		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl syndrome 1 (disorder)	Bardet-Biedl Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24611735		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	24611735	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	31506453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Cohen syndrome	Cohen Syndrome	BEFREE	16493448		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	CLINVAR_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
Cranioectodermal Dysplasia	Craniodiaphyseal dysplasia	Pubtator	33369054	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	22940089	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	17065520		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_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
Glycosuria Renal	Renal glycosuria	Pubtator	35960079	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26082521		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35695966	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	22998390	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11096143, 26965286		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Night blindness, congenital stationary	Night blindness	BEFREE	31144483		★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	12677556, 9888993		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	22940089	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12118255, 24081230		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24081230, 29217499, 33921825	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG	11567139		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	17065520, 22940089		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG	12118255, 26872967		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	GENOMICS_ENGLAND_DG	12118255, 23143442		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG	12118255, 15770229, 30718709		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	23143442, 31144483, 31541798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	25494902	Associate	★★★★★ 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
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	35695966	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	9405936		★☆☆☆☆ Found in Text Mining only
STARGARDT DISEASE 1 (disorder)	Stargardt disease	BEFREE	31144483		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	26082521		★☆☆☆☆ Found in Text Mining only
Usher Syndrome	Usher Syndrome	CLINVAR_DG	30718709		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitamin B 12 Deficiency	Cobalamin deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only