BBS7 (Bardet-Biedl syndrome 7)

Gene

• Entrez ID: 55212
• Gene name: Bardet-Biedl syndrome 7
• Gene symbol: BBS7
• Synonyms (NCBI Gene): BBS2L1
• Chromosome: 4
• Chromosome location: 4q27
• Summary: This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex ass

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs111442398	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs114718913	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, coding sequence variant
rs119466001	T>C	Pathogenic	Missense variant, coding sequence variant
rs119466002	G>A	Pathogenic	Missense variant, coding sequence variant
rs146617227	T>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150743868	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs202102193	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs587777812	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777836	GGAACT>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs672601379	TA>G	Pathogenic	Frameshift variant, coding sequence variant
rs760165634	CTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs761403504	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs773139166	TA>-	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs863224529	TGC>A	Pathogenic	Frameshift variant, coding sequence variant
rs863224530	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs869025207	G>C	Pathogenic	Coding sequence variant, missense variant
rs878853352	AG>TCT	Likely-pathogenic	Stop gained, coding sequence variant
rs886044668	->C	Pathogenic	Coding sequence variant, frameshift variant
rs991365297	A>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1057519027	T>G	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant
rs1221499782	C>T	Pathogenic	Missense variant, coding sequence variant
rs1233058112	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553933472	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1560638613	C>A	Likely-pathogenic	Splice donor variant
rs1560647130	A>G	Pathogenic	Splice donor variant
rs1560658189	T>A	Pathogenic	Stop gained, coding sequence variant
rs1578522416	TGATACTTCATTTATCTCTAGAAGGAGTTGACCAGATGCAGTTAGATAAATCACTTTGATCAGAAACATTAATAATGTAACAACAACACAAAATAAACATCAGAAAGAATTATTAATTTTGTTTGTTTACCGTATGATATGTTGAGGTTAATTTTCCTTTTTGTAGCTTCTTTAGAAAGCACATCTTTTAGGATGGAGATAGTAGAAATGTTGTCAGATTTAAAAACTCCCTCTCCTTTTCTATAAAATTAATAT	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, splice donor variant
rs1578537379	C>T	Likely-pathogenic	Splice donor variant
rs1578564877	->TCATAC	Pathogenic	Coding sequence variant, inframe insertion
rs1578577361	GT>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024648	hsa-miR-215-5p	Microarray	19074876
MIRT026140	hsa-miR-192-5p	Microarray	19074876
MIRT051927	hsa-let-7b-5p	CLASH	23622248
MIRT816965	hsa-miR-181a	CLIP-seq
MIRT816966	hsa-miR-181b	CLIP-seq
MIRT816967	hsa-miR-181c	CLIP-seq
MIRT816968	hsa-miR-181d	CLIP-seq
MIRT816969	hsa-miR-3144-3p	CLIP-seq
MIRT816970	hsa-miR-376a	CLIP-seq
MIRT816971	hsa-miR-376b	CLIP-seq
MIRT816972	hsa-miR-4262	CLIP-seq
MIRT816973	hsa-miR-579	CLIP-seq
MIRT816974	hsa-miR-664	CLIP-seq
MIRT816975	hsa-miR-1248	CLIP-seq
MIRT816976	hsa-miR-1302	CLIP-seq
MIRT816977	hsa-miR-1913	CLIP-seq
MIRT816978	hsa-miR-21	CLIP-seq
MIRT816979	hsa-miR-3122	CLIP-seq
MIRT816980	hsa-miR-3199	CLIP-seq
MIRT816981	hsa-miR-320a	CLIP-seq
MIRT816982	hsa-miR-320b	CLIP-seq
MIRT816983	hsa-miR-320c	CLIP-seq
MIRT816984	hsa-miR-320d	CLIP-seq
MIRT816985	hsa-miR-324-3p	CLIP-seq
MIRT816986	hsa-miR-346	CLIP-seq
MIRT816987	hsa-miR-3611	CLIP-seq
MIRT816988	hsa-miR-3913-5p	CLIP-seq
MIRT816989	hsa-miR-3940-5p	CLIP-seq
MIRT816990	hsa-miR-4298	CLIP-seq
MIRT816991	hsa-miR-4429	CLIP-seq
MIRT816992	hsa-miR-4507	CLIP-seq
MIRT816993	hsa-miR-4635	CLIP-seq
MIRT816994	hsa-miR-4699-5p	CLIP-seq
MIRT816995	hsa-miR-4709-5p	CLIP-seq
MIRT816996	hsa-miR-4712-5p	CLIP-seq
MIRT816997	hsa-miR-4724-3p	CLIP-seq
MIRT816998	hsa-miR-4803	CLIP-seq
MIRT816999	hsa-miR-494	CLIP-seq
MIRT817000	hsa-miR-526b	CLIP-seq
MIRT817001	hsa-miR-548c-3p	CLIP-seq
MIRT817002	hsa-miR-581	CLIP-seq
MIRT817003	hsa-miR-587	CLIP-seq
MIRT817004	hsa-miR-590-3p	CLIP-seq
MIRT817005	hsa-miR-590-5p	CLIP-seq
MIRT817006	hsa-miR-627	CLIP-seq
MIRT817007	hsa-miR-770-5p	CLIP-seq
MIRT817008	hsa-miR-885-5p	CLIP-seq
MIRT817009	hsa-miR-890	CLIP-seq
MIRT817010	hsa-miR-9	CLIP-seq
MIRT817011	hsa-miR-924	CLIP-seq
MIRT817012	hsa-miR-938	CLIP-seq
MIRT1920277	hsa-miR-128	CLIP-seq
MIRT1920278	hsa-miR-144	CLIP-seq
MIRT1920279	hsa-miR-27a	CLIP-seq
MIRT1920280	hsa-miR-27b	CLIP-seq
MIRT1920281	hsa-miR-4760-3p	CLIP-seq
MIRT1920277	hsa-miR-128	CLIP-seq
MIRT1920278	hsa-miR-144	CLIP-seq
MIRT1920279	hsa-miR-27a	CLIP-seq
MIRT1920280	hsa-miR-27b	CLIP-seq
MIRT1920281	hsa-miR-4760-3p	CLIP-seq
MIRT1941578	hsa-miR-3671	CLIP-seq
MIRT2180370	hsa-miR-374c	CLIP-seq
MIRT2180371	hsa-miR-655	CLIP-seq
MIRT2444656	hsa-miR-3152-5p	CLIP-seq
MIRT2444657	hsa-miR-362-5p	CLIP-seq
MIRT2444658	hsa-miR-4477a	CLIP-seq
MIRT2444659	hsa-miR-4774-3p	CLIP-seq
MIRT2444660	hsa-miR-500b	CLIP-seq
MIRT2444661	hsa-miR-501-5p	CLIP-seq
MIRT2444662	hsa-miR-513a-3p	CLIP-seq
MIRT2483741	hsa-miR-127-5p	CLIP-seq
MIRT2483742	hsa-miR-1323	CLIP-seq
MIRT2483743	hsa-miR-142-5p	CLIP-seq
MIRT2483744	hsa-miR-155	CLIP-seq
MIRT2483745	hsa-miR-203	CLIP-seq
MIRT2483746	hsa-miR-204	CLIP-seq
MIRT2483747	hsa-miR-2054	CLIP-seq
MIRT816978	hsa-miR-21	CLIP-seq
MIRT2483748	hsa-miR-211	CLIP-seq
MIRT2483749	hsa-miR-3137	CLIP-seq
MIRT2483750	hsa-miR-3163	CLIP-seq
MIRT2483751	hsa-miR-3182	CLIP-seq
MIRT2483752	hsa-miR-3200-3p	CLIP-seq
MIRT816981	hsa-miR-320a	CLIP-seq
MIRT816982	hsa-miR-320b	CLIP-seq
MIRT816983	hsa-miR-320c	CLIP-seq
MIRT816984	hsa-miR-320d	CLIP-seq
MIRT2483753	hsa-miR-340	CLIP-seq
MIRT816987	hsa-miR-3611	CLIP-seq
MIRT2483754	hsa-miR-3614-3p	CLIP-seq
MIRT2483755	hsa-miR-3618	CLIP-seq
MIRT1941578	hsa-miR-3671	CLIP-seq
MIRT2483756	hsa-miR-3686	CLIP-seq
MIRT2180370	hsa-miR-374c	CLIP-seq
MIRT2483757	hsa-miR-3924	CLIP-seq
MIRT2483758	hsa-miR-3938	CLIP-seq
MIRT2483759	hsa-miR-410	CLIP-seq
MIRT816991	hsa-miR-4429	CLIP-seq
MIRT2483760	hsa-miR-4517	CLIP-seq
MIRT2483761	hsa-miR-4666-5p	CLIP-seq
MIRT816994	hsa-miR-4699-5p	CLIP-seq
MIRT816995	hsa-miR-4709-5p	CLIP-seq
MIRT2483762	hsa-miR-4742-3p	CLIP-seq
MIRT2483763	hsa-miR-4755-5p	CLIP-seq
MIRT2483764	hsa-miR-4780	CLIP-seq
MIRT2483765	hsa-miR-4786-3p	CLIP-seq
MIRT816998	hsa-miR-4803	CLIP-seq
MIRT816999	hsa-miR-494	CLIP-seq
MIRT2483766	hsa-miR-518a-3p	CLIP-seq
MIRT2483767	hsa-miR-518b	CLIP-seq
MIRT2483768	hsa-miR-518c	CLIP-seq
MIRT2483769	hsa-miR-518d-3p	CLIP-seq
MIRT2483770	hsa-miR-518f	CLIP-seq
MIRT2483771	hsa-miR-548aa	CLIP-seq
MIRT2483772	hsa-miR-548ag	CLIP-seq
MIRT2483773	hsa-miR-548ai	CLIP-seq
MIRT817001	hsa-miR-548c-3p	CLIP-seq
MIRT2483774	hsa-miR-548o	CLIP-seq
MIRT817002	hsa-miR-581	CLIP-seq
MIRT817003	hsa-miR-587	CLIP-seq
MIRT817004	hsa-miR-590-3p	CLIP-seq
MIRT817005	hsa-miR-590-5p	CLIP-seq
MIRT2483775	hsa-miR-623	CLIP-seq
MIRT2180371	hsa-miR-655	CLIP-seq
MIRT817008	hsa-miR-885-5p	CLIP-seq
MIRT816978	hsa-miR-21	CLIP-seq
MIRT816981	hsa-miR-320a	CLIP-seq
MIRT816982	hsa-miR-320b	CLIP-seq
MIRT816983	hsa-miR-320c	CLIP-seq
MIRT816984	hsa-miR-320d	CLIP-seq
MIRT816991	hsa-miR-4429	CLIP-seq
MIRT2483762	hsa-miR-4742-3p	CLIP-seq
MIRT816998	hsa-miR-4803	CLIP-seq
MIRT816999	hsa-miR-494	CLIP-seq
MIRT2483771	hsa-miR-548aa	CLIP-seq
MIRT817003	hsa-miR-587	CLIP-seq
MIRT817005	hsa-miR-590-5p	CLIP-seq
MIRT817008	hsa-miR-885-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001654	Process	Eye development	IEA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001947	Process	Heart looping	ISS
GO:0005515	Function	Protein binding	IPI	16327777, 17574030, 18000879, 18762586, 20080638, 20195357, 22500027, 24550735, 25552655, 27173435, 28514442, 29039417, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	21399614
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:0005930	Component	Axoneme	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IPI	22302990
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008104	Process	Intracellular protein localization	IBA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032402	Process	Melanosome transport	ISS
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IPI	22302990
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:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0046907	Process	Intracellular transport	IBA
GO:0048546	Process	Digestive tract morphogenesis	ISS
GO:0051877	Process	Pigment granule aggregation in cell center	ISS
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	ISS
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	22302990
GO:1903929	Process	Primary palate development	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 607590
• HGNC: 18758
• e!Ensembl: ENSG00000138686

Protein

• UniProt ID: Q8IWZ6
• Protein name: BBSome complex member BBS7 (BBS2-like protein 1) (Bardet-Biedl syndrome 7 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
• Tissue specificity: TISSUE SPECIFICITY: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
• Sequence:

  MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKT
  LPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSD
  LFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDV
  MYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGG
  ILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKD
  SYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQER
  ENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDV
  DKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKT
  CQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGEC
  VTFYFQNTFLDTQLESTYRKGEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEV
  SVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEY
  KKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEILDSYDQNALISFFDAA

• Sequence length: 715

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	Likely pathogenic; Pathogenic	rs2149054421, rs2149054103, rs2149068932, rs577434138, rs2149084861, rs763719688, rs2149048173, rs1470030897, rs1725385758, rs2149066862, rs2149084783, rs672601379, rs119466001, rs119466002, rs764862220, rs2476523240, rs761403504, rs2476548951, rs2476455936, rs2476490195, rs779436749, rs863224530, rs878853352, rs2476633959, rs2476533813, rs760165634, rs773139166, rs2476523755, rs2476584179, rs1253789424, rs1725011800, rs1727380246, rs1258851646, rs2476534000, rs2476567100, rs2476567319, rs1385873554, rs2476585170, rs377194859, rs2476533846, rs2476496988, rs1191668967, rs2476548784, rs777707753, rs2476548653, rs2476456347, rs2476445162, rs2476801952, rs1291044978, rs2476803278, rs2476457200, rs2476490203, rs1173134997, rs1057519027, rs587777836, rs1578522416, rs1553930514, rs1553933472, rs991365297, rs1560638613, rs1560658189, rs1578537379, rs1578577361, rs1394015094, rs1726566546, rs762782183, rs1560664459, rs773052355, rs151275562, rs889417696, rs754579374	RCV001378177 RCV001387256 RCV001390905 RCV001381542 RCV001381545 RCV002013650 RCV001924660 RCV001932136 RCV002000219 RCV001934870 RCV005095849 RCV001246925 RCV001240994 RCV000456825 RCV003066815 RCV002582151 RCV003112167 RCV002870992 RCV002858673 RCV002848177 RCV002952531 RCV000200204 RCV002519763 RCV003222504 RCV003222511 RCV000820069 RCV000696169 RCV004765853 RCV003633725 RCV003523204 RCV003523205 RCV003779145 RCV003633726 RCV003486518 RCV003523241 RCV003524322 RCV003522216 RCV003522326 RCV003522382 RCV003525290 RCV003524464 RCV003524662 RCV003522661 RCV003633838 RCV003633969 RCV003634621 RCV003634618 RCV003634774 RCV003634880 RCV003634968 RCV003635318 RCV003633422 RCV003874553 RCV003633501 RCV003764632 RCV000497591 RCV000529910 RCV000638362 RCV000638355 RCV000698964 RCV000782280 RCV002536738 RCV000820079 RCV001002884 RCV001065130 RCV001053784 RCV003523059 RCV005093408 RCV001206041 RCV001234439 RCV001328270 RCV001328271	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic	rs760165634	RCV003228920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 1/7, digenic	Pathogenic	rs119466002	RCV000003152	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 7	Likely pathogenic; Pathogenic	rs2149054421, rs2149068932, rs577434138, rs763719688, rs1470030897, rs2149084783, rs672601379, rs119466001, rs119466002, rs587777812, rs779436749, rs863224530, rs869025207, rs878853352, rs760165634, rs773139166, rs2476804031, rs886044668, rs2476523755, rs2476801673, rs2476584179, rs2476446609, rs1253789424, rs2476456461, rs2476563282, rs779596692, rs2476509596, rs2476802894, rs187517894, rs2476804042, rs2476585049, rs2476547907, rs1725011800, rs1727380246, rs2476633187, rs1258851646, rs768257998, rs765109765, rs2476562375, rs2476523833, rs751454645, rs932897330, rs2476456020, rs1430683955, rs2476495796, rs2476563154, rs377194859, rs777707753, rs2476529741, rs2476802503, rs72680775, rs2476529732, rs752429735, rs1057519027, rs587777836, rs1221499782, rs1578537379, rs1578577361, rs1578564877, rs762782183, rs1726157542, rs1725388372, rs1725961307, rs773052355, rs151275562, rs1726067442, rs889417696, rs754579374	RCV003462955 RCV004570976 RCV003462978 RCV003337389 RCV003464180 RCV002251262 RCV000149506 RCV000003151 RCV002482819 RCV000003153 RCV003464640 RCV000710060 RCV000207525 RCV003463625 RCV001770227 RCV001535892 RCV003340679 RCV003463780 RCV003465098 RCV003465099 RCV003465100 RCV003465101 RCV003465102 RCV003465103 RCV003465104 RCV003465105 RCV003465106 RCV003465107 RCV003465108 RCV003465109 RCV003465110 RCV003465111 RCV003465112 RCV003465113 RCV003465114 RCV003465115 RCV003465116 RCV003465117 RCV003465118 RCV003465119 RCV003465120 RCV003465121 RCV003465122 RCV003465123 RCV003465124 RCV003465125 RCV003465126 RCV004574075 RCV005030148 RCV004515792 RCV004566386 RCV004575387 RCV004575388 RCV004575389 RCV000416357 RCV000023657 RCV000625806 RCV003461265 RCV000991427 RCV001002713 RCV002471032 RCV001170036 RCV001175189 RCV001175190 RCV002491622 RCV001810000 RCV003462843 RCV003462850 RCV001292625	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS7-related disorder	Likely pathogenic; Pathogenic	rs577434138, rs2149084861, rs1470030897, rs1725385758, rs672601379, rs119466001, rs119466002, rs779436749, rs760165634, rs773139166, rs1272877615, rs1727380246	RCV004743446 RCV004743447 RCV004743607 RCV004744177 RCV004742277 RCV003964791 RCV004742210 RCV003906353 RCV003409402 RCV004742359 RCV003417117 RCV004723329	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic	rs2476562375	RCV005927731	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Optic atrophy	Likely pathogenic; Pathogenic	rs672601379	RCV004815210	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs119466001, rs869025207, rs878853352, rs760165634, rs751454645, rs2476533846, rs762782183, rs1560664459	RCV004814815 RCV004816342 RCV000225449 RCV001075009 RCV004818352 RCV004794648 RCV001074184 RCV001074183	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BBS7-related ciliopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis pigmentosa	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	12567324, 19093007		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	12567324, 19402160, 20498079, 21642631, 22500027, 23572516, 26518167, 30614526		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	12677556, 12872256, 15266619, 19093007, 19402160, 22500027, 30839500, 31521835, 31589838		★★★★★ 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 7	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	12567324		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 7	Bardet-Biedl Syndrome	UNIPROT_DG	12567324, 12677556, 15770229, 21344540		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 7	Bardet-Biedl Syndrome	CLINVAR_DG	26518167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 7	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
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
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exencephaly	Anencephaly	BEFREE	22228099		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	31589838		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	31589838		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36672825	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
Polydactyly	Polydactyly	Pubtator	36672825	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	36672825	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
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 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