BBS9 (Bardet-Biedl syndrome 9)

Gene

• Entrez ID: 27241
• Gene name: Bardet-Biedl syndrome 9
• Gene symbol: BBS9
• Synonyms (NCBI Gene): B1, C18, D1, PTHB1
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61753526	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs61764068	A>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs137852856	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs137852857	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs137852858	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137962929	G>A	Pathogenic	Intron variant, splice donor variant, 5 prime UTR variant
rs138072724	C>T	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs142434516	T>A,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs145007686	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs148536971	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs149362446	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs201938124	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs370916293	A>C,G	Pathogenic	5 prime UTR variant, intron variant
rs587777810	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs587777811	G>C	Pathogenic	Splice donor variant
rs606231137	AACA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs746797123	C>G,T	Pathogenic	Stop gained, 3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs747388658	TT>-,T	Pathogenic	Frameshift variant, intron variant, coding sequence variant, non coding transcript variant
rs749974697	C>A,T	Likely-pathogenic, pathogenic	5 prime UTR variant, stop gained, non coding transcript variant, intron variant, coding sequence variant, missense variant
rs762511626	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs775081992	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, stop gained
rs781174906	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs863224534	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs869025208	ATGGACAAGGTAA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs886039799	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886039801	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs886039875	T>C	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs886042258	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1326810030	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1562686929	A>G	Pathogenic	Splice acceptor variant, intron variant
rs1562917450	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1563049863	T>A	Likely-pathogenic	Intron variant, splice donor variant, genic downstream transcript variant
rs1584179629	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, intron variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017564	hsa-miR-335-5p	Microarray	18185580
MIRT650436	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT650435	hsa-miR-8084	HITS-CLIP	23824327
MIRT650434	hsa-miR-28-3p	HITS-CLIP	23824327
MIRT650433	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT650432	hsa-miR-1248	HITS-CLIP	23824327
MIRT650431	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT650430	hsa-miR-8067	HITS-CLIP	23824327
MIRT650429	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650428	hsa-miR-623	HITS-CLIP	23824327
MIRT650427	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650426	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT650424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT650423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641650	hsa-miR-1264	HITS-CLIP	23824327
MIRT641649	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT641648	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT641647	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641646	hsa-miR-3185	HITS-CLIP	23824327
MIRT641645	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT650436	hsa-miR-5582-3p	HITS-CLIP	23824327
MIRT650435	hsa-miR-8084	HITS-CLIP	23824327
MIRT650434	hsa-miR-28-3p	HITS-CLIP	23824327
MIRT650433	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT650432	hsa-miR-1248	HITS-CLIP	23824327
MIRT650431	hsa-miR-6508-5p	HITS-CLIP	23824327
MIRT650430	hsa-miR-8067	HITS-CLIP	23824327
MIRT650429	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT650428	hsa-miR-623	HITS-CLIP	23824327
MIRT650427	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT650426	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT650425	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT650424	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT650423	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT641650	hsa-miR-1264	HITS-CLIP	23824327
MIRT641649	hsa-miR-3121-5p	HITS-CLIP	23824327
MIRT641648	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT641647	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641646	hsa-miR-3185	HITS-CLIP	23824327
MIRT641645	hsa-miR-4709-3p	HITS-CLIP	23824327
MIRT817013	hsa-miR-3647-3p	CLIP-seq
MIRT817014	hsa-miR-4661-5p	CLIP-seq
MIRT817015	hsa-miR-502-5p	CLIP-seq
MIRT817016	hsa-miR-516a-3p	CLIP-seq
MIRT2426612	hsa-miR-203	CLIP-seq
MIRT2426613	hsa-miR-4766-3p	CLIP-seq
MIRT2426614	hsa-miR-548p	CLIP-seq
MIRT2426615	hsa-miR-561	CLIP-seq
MIRT2483776	hsa-miR-410	CLIP-seq
MIRT2483777	hsa-miR-4427	CLIP-seq
MIRT2483778	hsa-miR-4677-3p	CLIP-seq
MIRT2483779	hsa-miR-4679	CLIP-seq
MIRT2483780	hsa-miR-4680-3p	CLIP-seq
MIRT2483781	hsa-miR-4699-3p	CLIP-seq
MIRT2483782	hsa-miR-4778-5p	CLIP-seq
MIRT2483783	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	22139371
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	17574030, 19081074, 20080638, 22072986, 22139371, 22500027, 24550735, 25552655, 27173435, 28514442, 29039417, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	22139371, 23943788, 24550735
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	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:0034451	Component	Centriolar satellite	IDA	23943788
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:0035869	Component	Ciliary transition zone	IDA	23943788
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0060170	Component	Ciliary membrane	IDA	19081074
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	NAS	19081074
GO:0061512	Process	Protein localization to cilium	IMP	23943788

Other IDs

• MIM: 607968
• HGNC: 30000
• e!Ensembl: ENSG00000122507

Protein

• UniProt ID: Q3SYG4
• Protein name: Protein PTHB1 (Bardet-Biedl syndrome 9 protein) (Parathyroid hormone-responsive B1 gene 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: 4YD8, 6XT9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14727	PHTB1_N	1 → 418	PTHB1 N-terminus	Family
  PF14728	PHTB1_C	441 → 819	PTHB1 C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. {ECO:0000269|PubMed:10221542, ECO:0000269|PubMed:16380913}.
• Sequence:

  MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTG
  DGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQ
  CQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLL
  PGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLN
  IGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGT
  INTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLG
  TDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPN
  FDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPD
  LTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQP
  SKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYR
  IQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGE
  KLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNL
  FQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLL
  KTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMP
  GGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE

• Sequence length: 887

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
Abnormality of the eye	Likely pathogenic; Pathogenic	rs2128345173, rs948418225	RCV001814317 RCV001814316	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome	Likely pathogenic; Pathogenic	rs2128345173, rs2128667543, rs948418225, rs1266192229, rs2128756914, rs1401715737, rs1815414782, rs137962929, rs2128344662, rs748601675, rs1864348159, rs2128108391, rs2128344706, rs2128646927, rs998200637, rs201938124, rs137852856, rs137852857, rs137852858, rs587777811, rs606231137, rs749403663, rs749974697, rs1452644432, rs749783672, rs372905559, rs2537669983, rs1423096639, rs928813600, rs762511626, rs863224534, rs1800104267, rs762425767, rs2535094469, rs746797123, rs775081992, rs886039799, rs886039801, rs1800087042, rs932364060, rs1408974101, rs773577974, rs1251539456, rs2536015460, rs2537396838, rs2128325966, rs2535876276, rs2535201698, rs758462362, rs2535613423, rs2537396400, rs2536369378, rs1310284141, rs2538378769, rs2536369054, rs2535328806, rs1288376188, rs2535328278, rs1417640176, rs770310531, rs377289479, rs2535204408, rs747388658, rs781174906, rs1563049863, rs1562686929, rs1562917450, rs1229015450, rs767005321, rs1295000119, rs1384578916, rs769256027	RCV001388670 RCV001386353 RCV001388265 RCV001388047 RCV001387040 RCV003772362 RCV001902445 RCV001932752 RCV001939369 RCV001946902 RCV001903922 RCV001918450 RCV001948828 RCV002266192 RCV003523123 RCV003522915 RCV000735941 RCV004799728 RCV001002885 RCV003522916 RCV000614851 RCV003079872 RCV000256468 RCV002629865 RCV002575392 RCV002800409 RCV002837499 RCV002876827 RCV002910177 RCV000199446 RCV000195839 RCV003018575 RCV003222527 RCV003222530 RCV002518770 RCV000256453 RCV000256419 RCV000256470 RCV003388406 RCV003778252 RCV003779146 RCV003523206 RCV005062969 RCV003523207 RCV003523930 RCV003524262 RCV003525140 RCV003523407 RCV003523819 RCV003524526 RCV003524843 RCV003524825 RCV003524863 RCV003634595 RCV003634692 RCV003635038 RCV003635120 RCV003635012 RCV003632999 RCV003633216 RCV003634396 RCV003854084 RCV003875043 RCV005101920 RCV000477579 RCV000548595 RCV003767840 RCV000697584 RCV000691979 RCV000735940 RCV000735943 RCV001207839 RCV001061507 RCV003523060 RCV001879824 RCV001880048	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome 1	Pathogenic	rs606231137	RCV000709632	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bardet-Biedl syndrome 9	Likely pathogenic; Pathogenic	rs2128667543, rs948418225, rs1266192229, rs1454474832, rs1401715737, rs779588488, rs1815414782, rs748601675, rs2128325966, rs2128646927, rs998200637, rs201938124, rs137852856, rs587777810, rs137852857, rs137852858, rs587777811, rs606231137, rs749403663, rs372905559, rs928813600, rs762511626, rs863224534, rs869025208, rs2536370797, rs746797123, rs886039875, rs775081992, rs2535217440, rs1815419592, rs1408974101, rs2537670864, rs1006435630, rs2537394538, rs2536171215, rs2535994640, rs780417929, rs2535612579, rs2536327415, rs2535288462, rs2536328379, rs773577974, rs2536368699, rs1204664319, rs2535915961, rs2535203638, rs1251539456, rs758462362, rs377289479, rs2536074802, rs2536369263, rs2537669686, rs2535328515, rs2536327971, rs2535000646, rs2536170537, rs2536170302, rs1800087042, rs2536326179, rs2535095820, rs137962929, rs747388658, rs781174906, rs1563049863, rs1229015450, rs1326810030, rs767005321, rs1295000119, rs1384578916, rs769256027, rs370729939, rs1369313123	RCV002499805 RCV002488210 RCV002493931 RCV002501865 RCV001839344 RCV001849654 RCV004571481 RCV003464311 RCV002249292 RCV003464422 RCV003464428 RCV000002775 RCV000002776 RCV000002777 RCV000002778 RCV000002779 RCV000002780 RCV000002781 RCV005034662 RCV003464599 RCV003464638 RCV003462313 RCV002485317 RCV000207745 RCV003110191 RCV000256188 RCV000256397 RCV003463723 RCV003465127 RCV003465128 RCV003465129 RCV003465130 RCV003465131 RCV003465132 RCV003465133 RCV003465134 RCV003465135 RCV003465136 RCV003465137 RCV003465138 RCV003465139 RCV003465140 RCV003465141 RCV003465142 RCV003465143 RCV003465144 RCV003465145 RCV003465148 RCV004574125 RCV004573364 RCV003988672 RCV004555770 RCV004575390 RCV004575391 RCV004575392 RCV004575393 RCV004575394 RCV004575395 RCV004575396 RCV004575397 RCV004578002 RCV002468580 RCV002248767 RCV000626295 RCV005034308 RCV000779536 RCV000985132 RCV003462590 RCV003462637 RCV001251462 RCV001262946 RCV001262960 RCV004799555	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BBS9-related disorder	Pathogenic; Likely pathogenic	rs1266192229, rs1454474832, rs998200637, rs201938124, rs137852858, rs606231137, rs749783672, rs928813600, rs775081992, rs932364060, rs137962929, rs747388658, rs1295000119, rs1384578916	RCV003405635 RCV004746418 RCV003973376 RCV004745141 RCV004745142 RCV003421896 RCV004747084 RCV003906343 RCV003409389 RCV003408298 RCV003912812 RCV003419945 RCV004746238 RCV004746297	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephronophthisis 4	Likely pathogenic; Pathogenic	rs137852856	RCV004813029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pancreatic adenocarcinoma	Likely pathogenic; Pathogenic	rs201938124	RCV005887226	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs137962929, rs998200637, rs606231137, rs767005321	RCV004815751 RCV004816999 RCV004814805 RCV001073836	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal vascular dystrophy	Pathogenic	rs775081992	RCV000787795	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic	rs1584179629	RCV000787794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BBS9-related ciliopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMOOTH SURFACE DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acrocephaly	Acrocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	29346644		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	31557306	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	LHGDN	16380913		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	CLINVAR_DG	16380913, 30614526		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl syndrome	Bardet-Biedl Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	22479622, 26085087, 26846096, 27486776, 28624958, 29674126, 31530639		★★★★★ 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 1 (disorder)	Bardet-Biedl Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 9	Bardet-Biedl Syndrome	UNIPROT_DG	16380913, 26085087		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 9	Bardet-Biedl Syndrome	GENOMICS_ENGLAND_DG	16380913		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 9	Bardet-Biedl Syndrome	CLINVAR_DG	26518167		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BARDET-BIEDL SYNDROME 9	Bardet-Biedl Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brachycephaly	Brachycephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	22479622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	34354814	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11720442	Associate	★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	31557306	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	23160099, 30651579, 35627201	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	CTD_human_DG	23160099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis	Craniosynostosis	BEFREE	28985029, 29674126, 30651579		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Craniosynostosis, Type 1	Craniosynostosis	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	Pubtator	30678657	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
Heart Failure	Heart failure	Pubtator	35346191	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	22479622		★☆☆☆☆ Found in Text Mining only
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1	Hydrocephalus	BEFREE	22479622		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	33138063	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
Hypogonadism	Hypogonadism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	33138063	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	GWASCAT_DG	27976721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Neoplasms	Liver neoplasm	Pubtator	11720442	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18048322	Associate	★☆☆☆☆ Found in Text Mining only
Metopic synostosis	Metopic synostosis	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Muenke Syndrome	Muenke syndrome	Pubtator	30651579	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	15834022	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	15834022	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	12618763		★☆☆☆☆ 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
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17411394, 31488071		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	26480920, 31488071, 33616283	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
Ovarian Failure, Premature	Ovarian Failure	BEFREE	18349106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11720442	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35179257	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	18349106		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37442983	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	22353939		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	22353939	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis Pigmentosa	Retinitis Pigmentosa	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-Cone Dystrophy	Rod-cone dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	BEFREE	23160099		★☆☆☆☆ Found in Text Mining only
Sagittal craniosynostosis	Sagittal craniosynostosis	GWASDB_DG	23160099		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	GWASCAT_DG	23160099		★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	GWASCAT_DG	30738427		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30678657	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synostotic Anterior Plagiocephaly	Synostotic Anterior Plagiocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Synostotic Posterior Plagiocephaly	Synostotic Posterior Plagiocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	CTD_human_DG	23160099		★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only