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	129880
Gene name	Bardet-Biedl syndrome 5
Gene symbol	BBS5
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q31.1
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121908581	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908582	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853921	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs143191074	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs179363897	G>A	Pathogenic	Missense variant, coding sequence variant
rs587777828	A>G	Pathogenic	Intron variant
rs753234582	G>C	Pathogenic	Splice acceptor variant
rs767221160	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs767822498	T>A,C	Pathogenic	Initiator codon variant, missense variant
rs772757329	C>T	Pathogenic	Coding sequence variant, stop gained
rs786205636	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205637	GAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1054138918	G>C	Likely-pathogenic	Splice acceptor variant
rs1238632042	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1272140892	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1466289570	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1477098739	A>G	Pathogenic	Splice acceptor variant
rs1553529427	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1559121920	A>G	Pathogenic	Coding sequence variant, missense variant
rs1559122157	T>C	Pathogenic	Splice donor variant
rs1559122277	G>T	Likely-pathogenic	Splice donor variant
rs1574339529	T>A	Pathogenic	Coding sequence variant, stop gained

546

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miRTarBase ID	miRNA	Experiments	Reference
MIRT631876	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT664456	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631875	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631874	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631873	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT664455	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631872	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631871	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631870	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631869	hsa-miR-612	HITS-CLIP	23824327
MIRT631868	hsa-miR-6860	HITS-CLIP	23824327
MIRT631867	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT631866	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT664454	hsa-miR-4252	HITS-CLIP	23824327
MIRT631865	hsa-miR-661	HITS-CLIP	23824327
MIRT631864	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT631863	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631862	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT664453	hsa-miR-7703	HITS-CLIP	23824327
MIRT648549	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT648548	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT620675	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT620674	hsa-miR-4286	HITS-CLIP	23824327
MIRT620673	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT620671	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT631876	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT631875	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631874	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631873	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631872	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631871	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631870	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631869	hsa-miR-612	HITS-CLIP	23824327
MIRT631868	hsa-miR-6860	HITS-CLIP	23824327
MIRT631867	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT631866	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT631865	hsa-miR-661	HITS-CLIP	23824327
MIRT631864	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT631863	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631862	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT620675	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT620674	hsa-miR-4286	HITS-CLIP	23824327
MIRT620673	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT620672	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620671	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT620670	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT620669	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT620668	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT620667	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT551683	hsa-miR-3662	PAR-CLIP	21572407
MIRT551682	hsa-miR-3646	PAR-CLIP	21572407
MIRT551681	hsa-miR-3184-3p	PAR-CLIP	21572407
MIRT551680	hsa-miR-4698	PAR-CLIP	21572407
MIRT551679	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT551678	hsa-miR-138-1-3p	PAR-CLIP	21572407
MIRT551677	hsa-miR-150-5p	PAR-CLIP	21572407
MIRT551676	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT551675	hsa-miR-2116-3p	PAR-CLIP	21572407
MIRT551674	hsa-miR-3618	PAR-CLIP	21572407
MIRT551673	hsa-miR-934	PAR-CLIP	21572407
MIRT551672	hsa-miR-4713-5p	PAR-CLIP	21572407
MIRT631876	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT664456	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT631875	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631874	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631873	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT664455	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT631872	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631871	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631870	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631869	hsa-miR-612	HITS-CLIP	23824327
MIRT631868	hsa-miR-6860	HITS-CLIP	23824327
MIRT631867	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT631866	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT664454	hsa-miR-4252	HITS-CLIP	23824327
MIRT631865	hsa-miR-661	HITS-CLIP	23824327
MIRT631864	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT631863	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631862	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT664453	hsa-miR-7703	HITS-CLIP	23824327
MIRT648549	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT648548	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT620675	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT620674	hsa-miR-4286	HITS-CLIP	23824327
MIRT620673	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT620671	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT631876	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT631875	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT631874	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT631873	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT631872	hsa-miR-1285-3p	HITS-CLIP	23824327
MIRT631871	hsa-miR-3187-5p	HITS-CLIP	23824327
MIRT631870	hsa-miR-5189-5p	HITS-CLIP	23824327
MIRT631869	hsa-miR-612	HITS-CLIP	23824327
MIRT631868	hsa-miR-6860	HITS-CLIP	23824327
MIRT631867	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT631866	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT631865	hsa-miR-661	HITS-CLIP	23824327
MIRT631864	hsa-miR-593-5p	HITS-CLIP	23824327
MIRT631863	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT631862	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT620675	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT620674	hsa-miR-4286	HITS-CLIP	23824327
MIRT620673	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT620672	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620671	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT620670	hsa-miR-513c-5p	HITS-CLIP	23824327
MIRT620669	hsa-miR-514b-5p	HITS-CLIP	23824327
MIRT620668	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT620667	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT551683	hsa-miR-3662	PAR-CLIP	21572407
MIRT551682	hsa-miR-3646	PAR-CLIP	21572407
MIRT551681	hsa-miR-3184-3p	PAR-CLIP	21572407
MIRT551680	hsa-miR-4698	PAR-CLIP	21572407
MIRT551679	hsa-miR-589-3p	PAR-CLIP	21572407
MIRT551678	hsa-miR-138-1-3p	PAR-CLIP	21572407
MIRT551677	hsa-miR-150-5p	PAR-CLIP	21572407
MIRT551676	hsa-miR-532-3p	PAR-CLIP	21572407
MIRT551675	hsa-miR-2116-3p	PAR-CLIP	21572407
MIRT551674	hsa-miR-3618	PAR-CLIP	21572407
MIRT551673	hsa-miR-934	PAR-CLIP	21572407
MIRT551672	hsa-miR-4713-5p	PAR-CLIP	21572407
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816898	hsa-miR-125a-3p	CLIP-seq
MIRT816899	hsa-miR-1273f	CLIP-seq
MIRT816900	hsa-miR-1285	CLIP-seq
MIRT816901	hsa-miR-1293	CLIP-seq
MIRT816902	hsa-miR-135a	CLIP-seq
MIRT816903	hsa-miR-135b	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT816905	hsa-miR-150	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816909	hsa-miR-2909	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT816912	hsa-miR-3157-5p	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816915	hsa-miR-3184	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT816917	hsa-miR-3197	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT816919	hsa-miR-3648	CLIP-seq
MIRT816920	hsa-miR-3656	CLIP-seq
MIRT816921	hsa-miR-3682-5p	CLIP-seq
MIRT816922	hsa-miR-3934	CLIP-seq
MIRT816923	hsa-miR-3940-3p	CLIP-seq
MIRT816924	hsa-miR-423-5p	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816926	hsa-miR-4268	CLIP-seq
MIRT816927	hsa-miR-4283	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816929	hsa-miR-4467	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816931	hsa-miR-4483	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT816933	hsa-miR-4514	CLIP-seq
MIRT816934	hsa-miR-4515	CLIP-seq
MIRT816935	hsa-miR-4651	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816937	hsa-miR-4672	CLIP-seq
MIRT816938	hsa-miR-4683	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816940	hsa-miR-4691-3p	CLIP-seq
MIRT816941	hsa-miR-4692	CLIP-seq
MIRT816942	hsa-miR-4717-5p	CLIP-seq
MIRT816943	hsa-miR-4720-3p	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816945	hsa-miR-4738-5p	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816947	hsa-miR-4747-5p	CLIP-seq
MIRT816948	hsa-miR-4756-3p	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT816950	hsa-miR-4783-5p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT816952	hsa-miR-483-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816955	hsa-miR-548aa	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816957	hsa-miR-555	CLIP-seq
MIRT816958	hsa-miR-608	CLIP-seq
MIRT816959	hsa-miR-644	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT816961	hsa-miR-764	CLIP-seq
MIRT816962	hsa-miR-766	CLIP-seq
MIRT816963	hsa-miR-885-3p	CLIP-seq
MIRT816964	hsa-miR-940	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT816917	hsa-miR-3197	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT1556023	hsa-miR-3192	CLIP-seq
MIRT1556024	hsa-miR-3689a-3p	CLIP-seq
MIRT1556025	hsa-miR-3689c	CLIP-seq
MIRT1556026	hsa-miR-3689d	CLIP-seq
MIRT816938	hsa-miR-4683	CLIP-seq
MIRT1556027	hsa-miR-4728-5p	CLIP-seq
MIRT1941558	hsa-miR-1207-3p	CLIP-seq
MIRT1941559	hsa-miR-1225-5p	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816899	hsa-miR-1273f	CLIP-seq
MIRT816900	hsa-miR-1285	CLIP-seq
MIRT816901	hsa-miR-1293	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT816905	hsa-miR-150	CLIP-seq
MIRT1941560	hsa-miR-184	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT1941561	hsa-miR-3147	CLIP-seq
MIRT1941562	hsa-miR-3160-3p	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816915	hsa-miR-3184	CLIP-seq
MIRT1556023	hsa-miR-3192	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT816917	hsa-miR-3197	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT816919	hsa-miR-3648	CLIP-seq
MIRT816921	hsa-miR-3682-5p	CLIP-seq
MIRT1556024	hsa-miR-3689a-3p	CLIP-seq
MIRT1556025	hsa-miR-3689c	CLIP-seq
MIRT1556026	hsa-miR-3689d	CLIP-seq
MIRT1941564	hsa-miR-3690	CLIP-seq
MIRT1941565	hsa-miR-384	CLIP-seq
MIRT1941566	hsa-miR-3907	CLIP-seq
MIRT816923	hsa-miR-3940-3p	CLIP-seq
MIRT816924	hsa-miR-423-5p	CLIP-seq
MIRT1941567	hsa-miR-4257	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT1941568	hsa-miR-4267	CLIP-seq
MIRT816926	hsa-miR-4268	CLIP-seq
MIRT816927	hsa-miR-4283	CLIP-seq
MIRT1941569	hsa-miR-4425	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816929	hsa-miR-4467	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816931	hsa-miR-4483	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT816933	hsa-miR-4514	CLIP-seq
MIRT816935	hsa-miR-4651	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816937	hsa-miR-4672	CLIP-seq
MIRT816938	hsa-miR-4683	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816941	hsa-miR-4692	CLIP-seq
MIRT1941570	hsa-miR-4704-3p	CLIP-seq
MIRT816942	hsa-miR-4717-5p	CLIP-seq
MIRT1556027	hsa-miR-4728-5p	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816948	hsa-miR-4756-3p	CLIP-seq
MIRT1941571	hsa-miR-4766-5p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT1941572	hsa-miR-4795-3p	CLIP-seq
MIRT1941573	hsa-miR-4804-5p	CLIP-seq
MIRT816952	hsa-miR-483-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT1941574	hsa-miR-486-3p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT1941575	hsa-miR-556-5p	CLIP-seq
MIRT1941576	hsa-miR-558	CLIP-seq
MIRT816958	hsa-miR-608	CLIP-seq
MIRT1941577	hsa-miR-654-3p	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT816962	hsa-miR-766	CLIP-seq
MIRT816963	hsa-miR-885-3p	CLIP-seq
MIRT816964	hsa-miR-940	CLIP-seq
MIRT2180326	hsa-miR-1178	CLIP-seq
MIRT2180327	hsa-miR-1182	CLIP-seq
MIRT2180328	hsa-miR-1202	CLIP-seq
MIRT1941558	hsa-miR-1207-3p	CLIP-seq
MIRT1941559	hsa-miR-1225-5p	CLIP-seq
MIRT2180329	hsa-miR-1226	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816898	hsa-miR-125a-3p	CLIP-seq
MIRT2180330	hsa-miR-1277	CLIP-seq
MIRT816900	hsa-miR-1285	CLIP-seq
MIRT816901	hsa-miR-1293	CLIP-seq
MIRT2180331	hsa-miR-139-3p	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT816905	hsa-miR-150	CLIP-seq
MIRT1941560	hsa-miR-184	CLIP-seq
MIRT2180332	hsa-miR-1910	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT1941561	hsa-miR-3147	CLIP-seq
MIRT2180333	hsa-miR-3150a-5p	CLIP-seq
MIRT2180334	hsa-miR-3150b-5p	CLIP-seq
MIRT1941562	hsa-miR-3160-3p	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT2180335	hsa-miR-3180-5p	CLIP-seq
MIRT816915	hsa-miR-3184	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT816917	hsa-miR-3197	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT2180336	hsa-miR-361-5p	CLIP-seq
MIRT816921	hsa-miR-3682-5p	CLIP-seq
MIRT1941564	hsa-miR-3690	CLIP-seq
MIRT1941565	hsa-miR-384	CLIP-seq
MIRT1941566	hsa-miR-3907	CLIP-seq
MIRT2180337	hsa-miR-3909	CLIP-seq
MIRT2180338	hsa-miR-3937	CLIP-seq
MIRT816923	hsa-miR-3940-3p	CLIP-seq
MIRT2180339	hsa-miR-3972	CLIP-seq
MIRT816924	hsa-miR-423-5p	CLIP-seq
MIRT2180340	hsa-miR-4254	CLIP-seq
MIRT1941567	hsa-miR-4257	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816926	hsa-miR-4268	CLIP-seq
MIRT2180341	hsa-miR-4279	CLIP-seq
MIRT816927	hsa-miR-4283	CLIP-seq
MIRT2180342	hsa-miR-4287	CLIP-seq
MIRT2180343	hsa-miR-4330	CLIP-seq
MIRT1941569	hsa-miR-4425	CLIP-seq
MIRT2180344	hsa-miR-4448	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT2180345	hsa-miR-4463	CLIP-seq
MIRT816929	hsa-miR-4467	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816931	hsa-miR-4483	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT2180346	hsa-miR-4494	CLIP-seq
MIRT2180347	hsa-miR-4505	CLIP-seq
MIRT2180348	hsa-miR-4513	CLIP-seq
MIRT816933	hsa-miR-4514	CLIP-seq
MIRT816934	hsa-miR-4515	CLIP-seq
MIRT2180349	hsa-miR-4520b-3p	CLIP-seq
MIRT2180350	hsa-miR-4529-3p	CLIP-seq
MIRT2180351	hsa-miR-4535	CLIP-seq
MIRT2180352	hsa-miR-4645-5p	CLIP-seq
MIRT816935	hsa-miR-4651	CLIP-seq
MIRT2180353	hsa-miR-4656	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816937	hsa-miR-4672	CLIP-seq
MIRT2180354	hsa-miR-4673	CLIP-seq
MIRT816938	hsa-miR-4683	CLIP-seq
MIRT2180355	hsa-miR-4685-3p	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816941	hsa-miR-4692	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT2180356	hsa-miR-4731-5p	CLIP-seq
MIRT2180357	hsa-miR-4733-3p	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816947	hsa-miR-4747-5p	CLIP-seq
MIRT2180358	hsa-miR-4749-3p	CLIP-seq
MIRT2180359	hsa-miR-4755-3p	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT2180360	hsa-miR-4776-5p	CLIP-seq
MIRT2180361	hsa-miR-4780	CLIP-seq
MIRT816950	hsa-miR-4783-5p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT1941573	hsa-miR-4804-5p	CLIP-seq
MIRT816952	hsa-miR-483-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT1941574	hsa-miR-486-3p	CLIP-seq
MIRT2180362	hsa-miR-492	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT2180363	hsa-miR-520a-5p	CLIP-seq
MIRT2180364	hsa-miR-525-5p	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT1941575	hsa-miR-556-5p	CLIP-seq
MIRT1941576	hsa-miR-558	CLIP-seq
MIRT816958	hsa-miR-608	CLIP-seq
MIRT2180365	hsa-miR-623	CLIP-seq
MIRT2180366	hsa-miR-647	CLIP-seq
MIRT2180367	hsa-miR-658	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT816962	hsa-miR-766	CLIP-seq
MIRT2180368	hsa-miR-767-3p	CLIP-seq
MIRT2180369	hsa-miR-9	CLIP-seq
MIRT816964	hsa-miR-940	CLIP-seq
MIRT816900	hsa-miR-1285	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT816917	hsa-miR-3197	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816933	hsa-miR-4514	CLIP-seq
MIRT816938	hsa-miR-4683	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816941	hsa-miR-4692	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816962	hsa-miR-766	CLIP-seq
MIRT816964	hsa-miR-940	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816900	hsa-miR-1285	CLIP-seq
MIRT816901	hsa-miR-1293	CLIP-seq
MIRT2180331	hsa-miR-139-3p	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT1941560	hsa-miR-184	CLIP-seq
MIRT2444650	hsa-miR-1908	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816915	hsa-miR-3184	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT2444651	hsa-miR-3652	CLIP-seq
MIRT1941564	hsa-miR-3690	CLIP-seq
MIRT816923	hsa-miR-3940-3p	CLIP-seq
MIRT816924	hsa-miR-423-5p	CLIP-seq
MIRT2180340	hsa-miR-4254	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816926	hsa-miR-4268	CLIP-seq
MIRT816927	hsa-miR-4283	CLIP-seq
MIRT2444652	hsa-miR-4430	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816931	hsa-miR-4483	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT2180347	hsa-miR-4505	CLIP-seq
MIRT816933	hsa-miR-4514	CLIP-seq
MIRT816934	hsa-miR-4515	CLIP-seq
MIRT816935	hsa-miR-4651	CLIP-seq
MIRT2180353	hsa-miR-4656	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816939	hsa-miR-4688	CLIP-seq
MIRT816941	hsa-miR-4692	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT1941573	hsa-miR-4804-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT1941574	hsa-miR-486-3p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816955	hsa-miR-548aa	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT2444653	hsa-miR-604	CLIP-seq
MIRT816958	hsa-miR-608	CLIP-seq
MIRT2180366	hsa-miR-647	CLIP-seq
MIRT2444654	hsa-miR-663	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT2444655	hsa-miR-744	CLIP-seq
MIRT816962	hsa-miR-766	CLIP-seq
MIRT816964	hsa-miR-940	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816901	hsa-miR-1293	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT1941560	hsa-miR-184	CLIP-seq
MIRT2444650	hsa-miR-1908	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816907	hsa-miR-2467-3p	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816915	hsa-miR-3184	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT2444651	hsa-miR-3652	CLIP-seq
MIRT1941564	hsa-miR-3690	CLIP-seq
MIRT816924	hsa-miR-423-5p	CLIP-seq
MIRT2180340	hsa-miR-4254	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816926	hsa-miR-4268	CLIP-seq
MIRT816927	hsa-miR-4283	CLIP-seq
MIRT2444652	hsa-miR-4430	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816931	hsa-miR-4483	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT2180347	hsa-miR-4505	CLIP-seq
MIRT816934	hsa-miR-4515	CLIP-seq
MIRT816935	hsa-miR-4651	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816946	hsa-miR-4743	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT1941573	hsa-miR-4804-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816958	hsa-miR-608	CLIP-seq
MIRT2444654	hsa-miR-663	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816904	hsa-miR-1470	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816910	hsa-miR-3135b	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT816913	hsa-miR-3180	CLIP-seq
MIRT816914	hsa-miR-3180-3p	CLIP-seq
MIRT816916	hsa-miR-3196	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816918	hsa-miR-361-3p	CLIP-seq
MIRT816923	hsa-miR-3940-3p	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816930	hsa-miR-4469	CLIP-seq
MIRT816932	hsa-miR-4487	CLIP-seq
MIRT816936	hsa-miR-4667-3p	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT816951	hsa-miR-4786-5p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq
MIRT816897	hsa-miR-1258	CLIP-seq
MIRT816906	hsa-miR-2276	CLIP-seq
MIRT816908	hsa-miR-28-5p	CLIP-seq
MIRT816911	hsa-miR-3139	CLIP-seq
MIRT1941563	hsa-miR-3613-3p	CLIP-seq
MIRT816925	hsa-miR-4266	CLIP-seq
MIRT816928	hsa-miR-4462	CLIP-seq
MIRT816944	hsa-miR-4730	CLIP-seq
MIRT816949	hsa-miR-4772-3p	CLIP-seq
MIRT816953	hsa-miR-485-5p	CLIP-seq
MIRT816954	hsa-miR-513c	CLIP-seq
MIRT816956	hsa-miR-548al	CLIP-seq
MIRT816960	hsa-miR-708	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001947	Process	Heart looping	ISS
GO:0005515	Function	Protein binding	IPI	16327777, 17574030, 18762586, 20080638, 22500027, 24550735, 24939912, 25416956, 25552655, 27173435, 29039417, 33144677, 33961781
GO:0005737	Component	Cytoplasm	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	IEA
GO:0007601	Process	Visual perception	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IDA	17574030
GO:0032402	Process	Melanosome transport	ISS
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:0036064	Component	Ciliary basal body	IBA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	ISS
GO:0046907	Process	Intracellular transport	IBA
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IMP	17574030
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990

MIM	HGNC	e!Ensembl
603650	970	ENSG00000163093

Q8N3I7

Protein name

BBSome complex member BBS5 (Bardet-Biedl syndrome 5 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

6XTB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07289	BBL5	7 → 339	Bardet-Biedl syndrome 5 protein	Family

Sequence

MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWH
SLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRL
FTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTF
FITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPV
EKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFV
AYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS

Sequence length

341

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs1471916487, rs2105291750, rs373396081, rs1574339529, rs2105297751, rs2105300418, rs2105304338, rs2105297825, rs1172161975, rs2468033187, rs756684256, rs786205636, rs1285925896, rs759233586, rs2105290053 View all (26 more)	RCV002546737 RCV001378765 RCV001383653 RCV001866093 RCV001925601 View all (37 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 5	Pathogenic; Likely pathogenic	rs1471916487, rs373396081, rs1683644409, rs1574339529, rs2105303591, rs536117380, rs1172161975, rs786205636, rs1285925896, rs2468033258, rs587777828, rs767221160, rs121908581, rs121908582, rs2468041599 View all (15 more)	RCV001335471 RCV005023140 RCV001526710 RCV001780411 RCV001808003 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS5-related disorder	Pathogenic; Likely pathogenic	rs2105300418, rs1238632042, rs1054138918, rs1272140892	RCV004753416 RCV003403181 RCV003392526 RCV004753002	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cone dystrophy	Likely pathogenic	rs1238632042	RCV000504629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bardet-Biedl syndrome 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

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	11179009, 12107442, 15137946, 16723438, 30850397, 31760295, 9888993		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	15137946, 18203199		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	15137946, 26325687, 30614526, 30718709		★★★★★ ★★★★★ 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	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 5	Bardet-Biedl Syndrome	UNIPROT_DG	15137946, 18203199, 21344540		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 5	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	15137946, 18203199		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 5	Bardet-Biedl Syndrome	BEFREE	16723438, 26867008		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 5	Bardet-Biedl Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 5	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	31173343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cone Dystrophy	Cone Dystrophy	CLINVAR_DG	15137946		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
Deafness Autosomal Recessive 31	Deafness	Pubtator	29806606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23562823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	CLINVAR_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	BEFREE	27520585		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	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 + Unknown/Other Associations
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MORM syndrome	MORM Syndrome	BEFREE	31173343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_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
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

BBS5 (Bardet-Biedl syndrome 5)