BBS4 (Bardet-Biedl syndrome 4)

Gene

• Entrez ID: 585
• Gene name: Bardet-Biedl syndrome 4
• Gene symbol: BBS4
• Synonyms (NCBI Gene): -
• Chromosome: 15
• Chromosome location: 15q24.1
• Summary: This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2277596	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs28938468	C>A,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs75295839	A>C,G	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs113994189	A>-	Pathogenic	Intron variant
rs113994190	G>A,C	Pathogenic	Splice donor variant
rs113994191	A>C,G	Pathogenic	Splice acceptor variant, 5 prime UTR variant
rs113994192	A>G	Pathogenic	Splice acceptor variant
rs121434632	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs141511580	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs142692981	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs147202164	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs150395094	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200113494	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs367882912	T>A,C	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs377031435	G>A	Uncertain-significance, pathogenic	Splice acceptor variant
rs398124432	AA>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, frameshift variant
rs749017489	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs750258633	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs770891152	T>A,C	Pathogenic	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs775710800	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs775928735	CTAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs886039800	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs886039802	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs886041464	T>A	Pathogenic, likely-pathogenic	Splice donor variant
rs1060503692	T>A	Pathogenic	Intron variant, stop gained, non coding transcript variant, coding sequence variant
rs1465437164	G>A,T	Pathogenic	Intron variant, splice donor variant
rs1555502637	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1567412639	C>G	Pathogenic	Intron variant
rs1567427651	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1595928075	G>A	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1595935759	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT441121	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT441119	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441118	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441117	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT441116	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT441121	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT441119	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441118	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT441117	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT441116	hsa-miR-376c-3p	HITS-CLIP	24374217
MIRT816872	hsa-miR-1185	CLIP-seq
MIRT816873	hsa-miR-2110	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT816877	hsa-miR-3144-5p	CLIP-seq
MIRT816878	hsa-miR-3150a-3p	CLIP-seq
MIRT816879	hsa-miR-3152-5p	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT816881	hsa-miR-3189-3p	CLIP-seq
MIRT816882	hsa-miR-3191	CLIP-seq
MIRT816883	hsa-miR-3605-5p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT816885	hsa-miR-3679-5p	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT816887	hsa-miR-4312	CLIP-seq
MIRT816888	hsa-miR-4652-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT816892	hsa-miR-4774-3p	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816894	hsa-miR-544b	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT1941554	hsa-miR-4464	CLIP-seq
MIRT1941555	hsa-miR-4748	CLIP-seq
MIRT1941556	hsa-miR-4795-3p	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq
MIRT2483700	hsa-miR-105	CLIP-seq
MIRT2483701	hsa-miR-1299	CLIP-seq
MIRT2483702	hsa-miR-1301	CLIP-seq
MIRT2483703	hsa-miR-1321	CLIP-seq
MIRT2483704	hsa-miR-1343	CLIP-seq
MIRT2483705	hsa-miR-196a	CLIP-seq
MIRT2483706	hsa-miR-196b	CLIP-seq
MIRT2483707	hsa-miR-204	CLIP-seq
MIRT2483708	hsa-miR-211	CLIP-seq
MIRT2483709	hsa-miR-2116	CLIP-seq
MIRT2483710	hsa-miR-2117	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2483711	hsa-miR-221	CLIP-seq
MIRT2483712	hsa-miR-222	CLIP-seq
MIRT2483713	hsa-miR-3074-5p	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT2483714	hsa-miR-3126-5p	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT2483715	hsa-miR-3154	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT2483716	hsa-miR-323b-3p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT2483717	hsa-miR-3927	CLIP-seq
MIRT2483718	hsa-miR-3938	CLIP-seq
MIRT2483719	hsa-miR-4270	CLIP-seq
MIRT2483720	hsa-miR-4273	CLIP-seq
MIRT2483721	hsa-miR-4277	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2483722	hsa-miR-4320	CLIP-seq
MIRT2483723	hsa-miR-4441	CLIP-seq
MIRT2483724	hsa-miR-4650-3p	CLIP-seq
MIRT2483725	hsa-miR-4660	CLIP-seq
MIRT2483726	hsa-miR-4677-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT2483727	hsa-miR-4728-5p	CLIP-seq
MIRT2483728	hsa-miR-4739	CLIP-seq
MIRT2483729	hsa-miR-4753-3p	CLIP-seq
MIRT2483730	hsa-miR-4753-5p	CLIP-seq
MIRT2483731	hsa-miR-4755-5p	CLIP-seq
MIRT2483732	hsa-miR-4756-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT2483733	hsa-miR-4782-5p	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT2483734	hsa-miR-5047	CLIP-seq
MIRT2483735	hsa-miR-5096	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT2483736	hsa-miR-513c	CLIP-seq
MIRT2483737	hsa-miR-514b-5p	CLIP-seq
MIRT2483738	hsa-miR-516b	CLIP-seq
MIRT2483739	hsa-miR-623	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT2483740	hsa-miR-892a	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq
MIRT2483700	hsa-miR-105	CLIP-seq
MIRT2483701	hsa-miR-1299	CLIP-seq
MIRT2483702	hsa-miR-1301	CLIP-seq
MIRT2483703	hsa-miR-1321	CLIP-seq
MIRT2483704	hsa-miR-1343	CLIP-seq
MIRT2483705	hsa-miR-196a	CLIP-seq
MIRT2483706	hsa-miR-196b	CLIP-seq
MIRT2483707	hsa-miR-204	CLIP-seq
MIRT2483708	hsa-miR-211	CLIP-seq
MIRT2483709	hsa-miR-2116	CLIP-seq
MIRT2483710	hsa-miR-2117	CLIP-seq
MIRT816874	hsa-miR-214	CLIP-seq
MIRT2483711	hsa-miR-221	CLIP-seq
MIRT2483712	hsa-miR-222	CLIP-seq
MIRT2483713	hsa-miR-3074-5p	CLIP-seq
MIRT2180322	hsa-miR-3115	CLIP-seq
MIRT816875	hsa-miR-3119	CLIP-seq
MIRT2483714	hsa-miR-3126-5p	CLIP-seq
MIRT816876	hsa-miR-3140-3p	CLIP-seq
MIRT2483715	hsa-miR-3154	CLIP-seq
MIRT816880	hsa-miR-3158-3p	CLIP-seq
MIRT2483716	hsa-miR-323b-3p	CLIP-seq
MIRT816884	hsa-miR-3619-5p	CLIP-seq
MIRT2180323	hsa-miR-3675-5p	CLIP-seq
MIRT2483717	hsa-miR-3927	CLIP-seq
MIRT2483718	hsa-miR-3938	CLIP-seq
MIRT2483719	hsa-miR-4270	CLIP-seq
MIRT2483720	hsa-miR-4273	CLIP-seq
MIRT2483721	hsa-miR-4277	CLIP-seq
MIRT816886	hsa-miR-4291	CLIP-seq
MIRT2483722	hsa-miR-4320	CLIP-seq
MIRT2483723	hsa-miR-4441	CLIP-seq
MIRT2483724	hsa-miR-4650-3p	CLIP-seq
MIRT2483725	hsa-miR-4660	CLIP-seq
MIRT2483726	hsa-miR-4677-5p	CLIP-seq
MIRT816889	hsa-miR-4685-5p	CLIP-seq
MIRT816890	hsa-miR-4690-5p	CLIP-seq
MIRT2483727	hsa-miR-4728-5p	CLIP-seq
MIRT2483728	hsa-miR-4739	CLIP-seq
MIRT2483729	hsa-miR-4753-3p	CLIP-seq
MIRT2483730	hsa-miR-4753-5p	CLIP-seq
MIRT2483731	hsa-miR-4755-5p	CLIP-seq
MIRT2483732	hsa-miR-4756-5p	CLIP-seq
MIRT816891	hsa-miR-4757-5p	CLIP-seq
MIRT2483733	hsa-miR-4782-5p	CLIP-seq
MIRT2180324	hsa-miR-486-3p	CLIP-seq
MIRT2483734	hsa-miR-5047	CLIP-seq
MIRT2483735	hsa-miR-5096	CLIP-seq
MIRT1941557	hsa-miR-510	CLIP-seq
MIRT816893	hsa-miR-512-5p	CLIP-seq
MIRT2483736	hsa-miR-513c	CLIP-seq
MIRT2483737	hsa-miR-514b-5p	CLIP-seq
MIRT2483738	hsa-miR-516b	CLIP-seq
MIRT2483739	hsa-miR-623	CLIP-seq
MIRT816895	hsa-miR-761	CLIP-seq
MIRT2483740	hsa-miR-892a	CLIP-seq
MIRT816896	hsa-miR-922	CLIP-seq
MIRT2180325	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	ISS
GO:0000242	Component	Pericentriolar material	IDA	15107855
GO:0000281	Process	Mitotic cytokinesis	IMP	15107855
GO:0001103	Function	RNA polymerase II repressing transcription factor binding	IPI	22302990
GO:0001843	Process	Neural tube closure	ISS
GO:0001895	Process	Retina homeostasis	ISS
GO:0001947	Process	Heart looping	ISS
GO:0005515	Function	Protein binding	IPI	15107855, 16327777, 17574030, 18000879, 18762586, 18772192, 19081074, 20080638, 22500027, 23943788, 24550735, 24939912, 25416956, 25552655, 26871637, 27173435, 29039417, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005813	Component	Centrosome	IDA	14520415, 18762586, 22500027, 24550735
GO:0005814	Component	Centriole	IDA	15107855
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA	23943788, 24550735
GO:0007098	Process	Centrosome cycle	IMP	15107855
GO:0007286	Process	Spermatid development	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007608	Process	Sensory perception of smell	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016358	Process	Dendrite development	ISS
GO:0019216	Process	Regulation of lipid metabolic process	ISS
GO:0021756	Process	Striatum development	ISS
GO:0021766	Process	Hippocampus development	ISS
GO:0021987	Process	Cerebral cortex development	ISS
GO:0030534	Process	Adult behavior	ISS
GO:0030674	Function	Protein-macromolecule adaptor activity	IMP	15107855
GO:0031514	Component	Motile cilium	IDA	18299575
GO:0032402	Process	Melanosome transport	ISS
GO:0032465	Process	Regulation of cytokinesis	IMP	15107855
GO:0033365	Process	Protein localization to organelle	ISS
GO:0034451	Component	Centriolar satellite	IDA	15107855, 23943788, 24550735
GO:0034452	Function	Dynactin binding	IDA	15107855
GO:0034454	Process	Microtubule anchoring at centrosome	IMP	15107855
GO:0034464	Component	BBSome	IDA	17574030, 20080638, 24550735
GO:0035869	Component	Ciliary transition zone	IDA	23943788
GO:0036064	Component	Ciliary basal body	IDA	15107855, 18299575
GO:0038108	Process	Negative regulation of appetite by leptin-mediated signaling pathway	ISS
GO:0043014	Function	Alpha-tubulin binding	IDA	17574030
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045494	Process	Photoreceptor cell maintenance	ISS
GO:0045724	Process	Positive regulation of cilium assembly	ISS
GO:0046548	Process	Retinal rod cell development	ISS
GO:0046907	Process	Intracellular transport	ISS	16399798
GO:0048487	Function	Beta-tubulin binding	IDA	17574030
GO:0048854	Process	Brain morphogenesis	ISS
GO:0050893	Process	Sensory processing	TAS	14520415
GO:0051457	Process	Maintenance of protein location in nucleus	IGI	15107855
GO:0060170	Component	Ciliary membrane	IDA	17574030
GO:0060271	Process	Cilium assembly	ISS	16399798
GO:0060296	Process	Regulation of cilium beat frequency involved in ciliary motility	ISS
GO:0061512	Process	Protein localization to cilium	IMP	23943788
GO:0071539	Process	Protein localization to centrosome	IMP	15107855
GO:0097730	Component	Non-motile cilium	IDA	17574030
GO:1905515	Process	Non-motile cilium assembly	ISS

Other IDs

• MIM: 600374
• HGNC: 969
• e!Ensembl: ENSG00000140463

Protein

• UniProt ID: Q96RK4
• Protein name: BBSome complex member BBS4 (Bardet-Biedl syndrome 4 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
  PF13414	TPR_11	108 → 146		Repeat
  PF13414	TPR_11	175 → 216		Repeat
  PF13181	TPR_8	270 → 303	Tetratricopeptide repeat	Repeat
  PF13181	TPR_8	338 → 369	Tetratricopeptide repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. The highest level of expression is found in the kidney.
• Sequence:

  MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQ
  ETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAA
  IEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLL
  EGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAIL
  AAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLA
  PFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRA
  YAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEM
  AQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRT
  LPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK

• Sequence length: 519

Pathways

Reactome:

BBSome-mediated cargo-targeting to cilium

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bardet-biedl syndrome	Bardet-Biedl Syndrome, Bardet-Biedl syndrome 1 (disorder), Bardet-Biedl syndrome 4 (disorder), Bardet-Biedl syndrome	rs397704728, rs397515335, rs397515337, rs267607031, rs121918327, rs587777801, rs587777802, rs121918328, rs587777803, rs549625604, rs137852837, rs137852833, rs137852835, rs267606719, rs199874059, rs587777804, rs104893678, rs104893679, rs104893680, rs104893681, rs587777806, rs587777807, rs119103286, rs587777808, rs201938124, rs137852856, rs587777810, rs137852857, rs137852858, rs587777811, rs606231137, rs119466001, rs119466002, rs587777812, rs587777824, rs121908174, rs121908175, rs121908176, rs121908177, rs121908178, rs121908179, rs138043021, rs587777825, rs587777826, rs121908180, rs121908181, rs281797258, rs74315396, rs74315397, rs587777827, rs74315399, rs137853154, rs281797259, rs587777828, rs1574339529, rs767221160, rs121908581, rs121908582, rs111033570, rs111033571, rs1588218453, rs121434632, rs113994189, rs113994192, rs28938468, rs113624356, rs121917777, rs587777829, rs587777830, rs113994195, rs113994196, rs113994178, rs113994190, rs113994191, rs137854887, rs587777836, rs587777837, rs148374859, rs387907136, rs193922710, rs193922711, rs431825171, rs386834044, rs386834046, rs386834047, rs386834050, rs201933838, rs386834051, rs386834149, rs386834152, rs386834153, rs62640570, rs386834159, rs199474722, rs137854907, rs151344630, rs179363897, rs62640580, rs62640582, rs62640574, rs62638179, rs281865187, rs281865188, rs62640578, rs515726134, rs515726135, rs515726136, rs587777546, rs587783009, rs587783010, rs587783016, rs587777846, rs587777847, rs672601379, rs727503781, rs727503818, rs727503853, rs786204444, rs786204701, rs768443448, rs770556842, rs786204705, rs786204575, rs786204573, rs786204671, rs756368560, rs749974697, rs786205636, rs786205855, rs370540673, rs794727006, rs797044632, rs794727070, rs766608755, rs370119681, rs758329611, rs770258677, rs376306240, rs797045946, rs797045948, rs797045706, rs863224529, rs863224530, rs762511626, rs863224534, rs863224782, rs761101213, rs863224522, rs869025207, rs869025208, rs869025204, rs869025205, rs869025209, rs869025211, rs869025210, rs869025206, rs863225187, rs771454167, rs575767207, rs756302731, rs780624853, rs863225182, rs863225189, rs863225183, rs727503855, rs863225186, rs758550675, rs768933093, rs756853299, rs878853352, rs371496675, rs878853360, rs377031435, rs878855095, rs200699377, rs746797123, rs886039875, rs751375244, rs775081992, rs886039799, rs886039801, rs886039798, rs758522600, rs886039805, rs886039802, rs886039800, rs886039797, rs780225183, rs886041464, rs760165634, rs886042359, rs886042360, rs886042729, rs201196733, rs773139166, rs886043841, rs886044106, rs886044668, rs770218590, rs752202089, rs1057515576, rs1057517193, rs764245266, rs1057516449, rs1057516507, rs1057517007, rs1057516451, rs376894444, rs1057516933, rs1057516502, rs1057516330, rs1057517332, rs1057516427, rs1057517143, rs746875134, rs1057516661, rs1057516371, rs1057516533, rs1057516901, rs775769424, rs773632109, rs1057516628, rs1057516754, rs375413604, rs1057516669, rs1057517031, rs773864735, rs759682922, rs1057517156, rs1057517206, rs1057516623, rs765561672, rs1057516998, rs1057516836, rs1057517184, rs1057516266, rs1057516753, rs774095109, rs1057516240, rs1057516701, rs1057516861, rs147030232, rs865870355, rs775043799, rs757641323, rs773386777, rs1057518822, rs1057519165, rs1057519027, rs775710800, rs1060499781, rs137962929, rs1060503690, rs1166022838, rs775950661, rs1060500996, rs367882912, rs1060503692, rs749017489, rs766087213, rs1064796315, rs1555202695, rs763762899, rs777464278, rs1555220638, rs1553794304, rs1578522416, rs780059308, rs1555202801, rs1553529427, rs1473611414, rs1553941312, rs752762669, rs898539189, rs1555202645, rs762668200, rs756632517, rs965522059, rs1555049194, rs1302879683, rs1555212271, rs1555220625, rs200818935, rs1553930514, rs1381368546, rs747388658, rs759376012, rs766670248, rs1555534964, rs1555202697, rs1286714661, rs1272411609, rs1555202584, rs567573386, rs1452465499, rs747685252, rs1555523398, rs1555213204, rs1555202538, rs1555197766, rs1555202806, rs1555801973, rs1460517643, rs1555047786, rs1555802009, rs1221499782, rs771266705, rs781174906, rs1170451277, rs1555225566, rs772757329, rs1553933472, rs991365297, rs1269565757, rs1555047409, rs200116631, rs776645403, rs757609119, rs770891152, rs751361090, rs753338844, rs1397714772, rs769588983, rs1553941255, rs1553941258, rs1553941279, rs1553941369, rs1195341481, rs1284876635, rs1553941540, rs1444062882, rs756061536, rs1173504533, rs1553941391, rs766741204, rs1553941433, rs745448288, rs770872200, rs1553941304, rs1553941404, rs1553941580, rs751753112, rs1555046748, rs771517209, rs748523268, rs1555050394, rs1014835928, rs1555049933, rs1182864166, rs1313590454, rs1555046611, rs1555049893, rs1555050268, rs1555050404, rs1555202546, rs1555202562, rs769028262, rs1389599028, rs1555202654, rs1555202731, rs1306821707, rs1353098253, rs183771956, rs1555202572, rs1555202583, rs759185809, rs1555202614, rs1555202636, rs758732081, rs1555202740, rs1310735399, rs1555202599, rs1555202642, rs1555202681, rs1278460471, rs1555202607, rs760642305, rs753604828, rs1555202656, rs1555202657, rs1156913215, rs574032499, rs1555202698, rs1555202737, rs760693838, rs202228478, rs1555520256, rs1555521379, rs777234811, rs1555522893, rs1273181642, rs1367927635, rs1555524593, rs1166717771, rs745951028, rs201063733, rs778090540, rs1555522000, rs544773389, rs773862084, rs1555520142, rs1555520220, rs762047808, rs1555521501, rs1555522252, rs764164384, rs1047075022, rs779690256, rs773417074, rs1555523964, rs750506474, rs1488635637, rs1555599412, rs1555521489, rs878962682, rs746171104, rs1555523584, rs375170572, rs1477098739, rs1559122157, rs1565289799, rs1565809409, rs1054138918, rs1466289570, rs1800908907, rs746478265, rs1563049863, rs1560638613, rs1564218190, rs1565809597, rs772170760, rs1565809867, rs750258633, rs1272140892, rs1559121920, rs1339432710, rs138011813, rs1562686929, rs1562917450, rs1565287512, rs1160669210, rs1486200900, rs1565291081, rs1340165752, rs1565809995, rs781421232, rs1565810301, rs1465437164, rs1567412639, rs1567427651, rs767373822, rs1568662687, rs1306231185, rs1568666460, rs780659194, rs1569077441, rs753884599, rs1559126736, rs1226386838, rs1472488128, rs1565835538, rs1565286223, rs763299856, rs1565286202, rs1390963789, rs1560658189, rs772917364, rs1565287921, rs1565809478, rs1567576202, rs1578489760, rs1470030897, rs1229015450, rs767481770, rs1356713858, rs1368647604, rs770084716, rs1559122277, rs561598805, rs1592726020, rs776004321, rs762276925, rs777420525, rs1578491070, rs1578491135, rs745656125, rs1294402003, rs587783017, rs778030031, rs754728136, rs749331348, rs1339975972, rs1468942944, rs760415289, rs1290241933, rs372822977, rs1597016660, rs1578537379, rs1587357327, rs751922029, rs775928735, rs768385647, rs1326810030, rs200113494, rs747266069, rs1490351829, rs1590772920, rs1592491950, rs1039146791, rs1597012997, rs1578577361, rs375548374, rs763473957, rs767822498, rs1578564877, rs1590762360, rs1592784618, rs1595935759, rs2037751886, rs1856758582, rs1951757988, rs1951767864, rs2065331681, rs1592492255, rs45502896, rs745497072, rs1221464366, rs773622064, rs2037752645, rs1354476372, rs772544112, rs1683644662, rs1394015094, rs767005321, rs398124253, rs35904234, rs778850233, rs138744839, rs778431173, rs1951758601, rs1951767589, rs553291328, rs2033254449, rs781310385, rs1364945778, rs761907569, rs1033594764, rs1186821575, rs1199538371, rs1363846772, rs777218224, rs903778224, rs1726566546, rs2039659434, rs761969357, rs1419924139, rs1363498219, rs762782183, rs974173261, rs1560708847, rs1856790811, rs2033937635, rs748471942, rs762633090, rs774490795, rs2065896039, rs759131391, rs1560664459, rs1856202628, rs1856699646, rs752197734, rs1295000119, rs2034232539, rs750073051, rs763559949	11381270, 30718709, 19402160, 30614526, 24849935, 27208204, 26518167, 12677556, 15666242, 12872256, 12016587, 15770229, 20498079
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hypertension	Hypertensive disease	rs13306026
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114, rs483352894, rs121908282, rs549625604, rs137852832, rs1587620953, rs104893680, rs587777805, rs386834261, rs104894474, rs104894475, rs28940315, rs387906272, rs202126574, rs267607017, rs80338903, rs397518008, rs111033367, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs80338904, rs121909398, rs119103286, rs587777809, rs121434241, rs121434242, rs121434243, rs121434236, rs121434238, rs121434239, rs121434240, rs267607034, rs267606874, rs267606876, rs267606875, rs1555468634, rs28940869, rs193919337, rs587776589, rs119475042, rs587776590, rs119475043, rs1600344451, rs1600337143, rs587776591, rs121908140, rs1085307049, rs111033258, rs121908142, rs111033267, rs137852959, rs121908175, rs121908178, rs121908179, rs138043021, rs397515359, rs397515360, rs730880273, rs119489105, rs371956016, rs1600169350, rs104894492, rs104894493, rs28937873, rs121912631, rs1567160967, rs886037612, rs137853005, rs62635656, rs62635655, rs62635654, rs28939720, rs137853137, rs62636291, rs62636275, rs281865175, rs104894082, rs869320726, rs869320727, rs104894083, rs869320728, rs121909073, rs121909074, rs121909075, rs121909076, rs1581734819, rs1581742970, rs104894672, rs104894178, rs201578674, rs61751386, rs267607077, rs121918532, rs1567360969, rs137852696, rs104893967, rs61750173, rs118203888, rs62638644, rs62638651, rs62642057, rs62638634, rs62638637, rs137852549, rs606231180, rs606231181, rs62638646, rs2147248070, rs137852550, rs137852284, rs104894925, rs28933687, rs104894926, rs2147081376, rs104894927, rs35689081, rs113624356, rs121917777, rs104893768, rs29001566, rs29001637, rs28933394, rs104893769, rs104893771, rs104893772, rs104893773, rs104893779, rs104893774, rs104893776, rs104893777, rs28933993, rs104893775, rs104893778, rs29001653, rs104893780, rs104893781, rs104893787, rs28933395, rs104893786, rs104893782, rs104893791, rs104893792, rs104893788, rs104893793, rs104893794, rs121918590, rs104893795, rs104893797, rs137853290, rs766278489, rs28933990, rs137853291, rs1598717056, rs121918579, rs121918580, rs730880317, rs121918581, rs1553801591, rs121918583, rs121918576, rs121918577, rs121918578, rs61752895, rs61752871, rs62637004, rs121917744, rs61752909, rs121917745, rs61755777, rs61755806, rs121918563, rs61755793, rs61755792, rs61755816, rs61755786, rs61755771, rs61755794, rs61755783, rs104894459, rs763191889, rs121912550, rs121912552, rs121909599, rs121909600, rs62625014, rs104893736, rs781781440, rs779514800, rs387906646, rs387906648, rs62653011, rs121909835, rs869320618, rs61751399, rs775098953, rs374390376, rs387906971, rs1911001854, rs147394623, rs786200928, rs1064792852, rs387907136, rs387907137, rs387907192, rs376586707, rs201188361, rs387907268, rs747425652, rs1573554264, rs387907314, rs199476194, rs62645748, rs397514574, rs397514575, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033518, rs397517983, rs397517984, rs111033385, rs111033417, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518013, rs397518014, rs397518018, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs397518046, rs41308425, rs397518048, rs73090721, rs111033263, rs146150511, rs387907367, rs386833717, rs386834012, rs386834019, rs386834024, rs386834152, rs398122391, rs879255568, rs398122960, rs398122961, rs398122962, rs398122963, rs398122964, rs398122525, rs398123298, rs398123336, rs1800728, rs398123538, rs398123575, rs398123576, rs372504780, rs398124544, rs398124618, rs398124619, rs149614625, rs587777086, rs431905521, rs61755781, rs61755785, rs61755787, rs61755796, rs61755800, rs61755805, rs61755807, rs61755810, rs61755817, rs62645935, rs281865373, rs61748433, rs62635002, rs62653030, rs281865304, rs62638633, rs62638645, rs62640589, rs61751276, rs61751281, rs61751282, rs62637006, rs62637007, rs61752873, rs281865285, rs61752883, rs61752884, rs281865286, rs61748550, rs61748558, rs61748559, rs61751385, rs61749409, rs61749414, rs61749418, rs61752401, rs61751263, rs62654397, rs61748526, rs61751395, rs61749433, rs61752407, rs62642570, rs61749451, rs61749459, rs61750065, rs61751398, rs62645946, rs61750137, rs61754044, rs61750140, rs61751402, rs281865377, rs61751388, rs61750152, rs62642574, rs61750155, rs61750567, rs61753023, rs61750571, rs61751406, rs61753029, rs61753030, rs61751389, rs61750639, rs61753043, rs61750653, rs61750654, rs61753046, rs63749055, rs62645958, rs62645944, rs62636511, rs281865168, rs281865171, rs281865166, rs62638179, rs281865188, rs62645754, rs62636264, rs62636266, rs62636267, rs62636273, rs62635659, rs62645752, rs137853923, rs730880283, rs587777272, rs587777273, rs202210819, rs587777376, rs587777377, rs483353056, rs587777599, rs527236085, rs527236089, rs527236091, rs527236088, rs527236090, rs527236097, rs527236098, rs148460146, rs527236101, rs527236100, rs527236102, rs527236062, rs527236055, rs527236056, rs527236109, rs527236108, rs527236111, rs527236112, rs527236092, rs527236059, rs527236058, rs527236077, rs527236072, rs527236075, rs527236073, rs527236065, rs527236074, rs527236071, rs527236068, rs527236069, rs527236078, rs527236066, rs527236076, rs527236070, rs527236067, rs527236082, rs527236060, rs527236061, rs372989281, rs527236079, rs527236116, rs527236087, rs201493928, rs527236105, rs527236083, rs527236134, rs527236096, rs527236113, rs527236114, rs527236086, rs527236094, rs144738703, rs527236095, rs199867882, rs527236099, rs114342808, rs527236139, rs527236137, rs527236127, rs527236124, rs527236126, rs527236125, rs527236121, rs527236123, rs55958016, rs527236120, rs527236118, rs587783013, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504075, rs730882149, rs730882261, rs148412181, rs746523071, rs786204428, rs750228923, rs749909863, rs786205444, rs786205445, rs786205447, rs786205450, rs767745816, rs2723341, rs786205493, rs368098126, rs761628767, rs786205533, rs786205534, rs786205535, rs786205545, rs786205564, rs763295314, rs797044561, rs793888523, rs786205610, rs786205626, rs786205644, rs786205652, rs750542962, rs863223342, rs863223341, rs863223338, rs863223344, rs863223339, rs863223340, rs779007169, rs863223343, rs786205856, rs786205857, rs786205858, rs794726979, rs372354156, rs794727120, rs794727139, rs794727197, rs794727281, rs754012367, rs373441420, rs761238771, rs775557680, rs794727579, rs794727631, rs797044735, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794727903, rs875989821, rs781192528, rs386833744, rs746174328, rs797045089, rs752683070, rs770258677, rs797045120, rs376306240, rs368049814, rs770558150, rs797045224, rs863224862, rs863224894, rs759781200, rs771214648, rs372659908, rs201541131, rs869312182, rs869312180, rs869312179, rs758052437, rs869312177, rs869312188, rs869312183, rs869312187, rs1060499536, rs749012133, rs762951570, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs876657718, rs876661403, rs775177930, rs61750138, rs768278935, rs201471607, rs61749427, rs61752398, rs765707028, rs767648174, rs368675850, rs878853407, rs878853413, rs878853410, rs878853354, rs878853353, rs750151209, rs761440783, rs199584830, rs878853350, rs878853349, rs143994166, rs878853327, rs878853328, rs760430056, rs878853394, rs868538598, rs879253768, rs879255547, rs200826424, rs368217569, rs886037911, rs886037947, rs886037948, rs886037949, rs764256655, rs751130485, rs886039450, rs886039449, rs145961131, rs886039422, rs753355844, 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rs1476546899, rs145605739, rs759537984, rs141252097, rs754916169, rs748972748, rs1166245419, rs771640639, rs1768367412, rs764362221, rs1050742628, rs1299355731, rs184722374, rs1477705832, rs1561965266, rs761760327, rs1245304444, rs1431710414, rs1767601438, rs1764940309, rs1389794536, rs989589885, rs1769936722, rs1765726534, rs780433094, rs1231321479, rs765035454, rs759505780, rs774264204, rs1924904597, rs776014770, rs1662191792, rs1228475082, rs1772614934, rs1193854376, rs748946491, rs767630412, rs746128841, rs748977292, rs1767600988, rs1769267226, rs373232101, rs1167867158, rs1660515780, rs1664290387, rs866822473, rs963201816, rs1664325377, rs1664671663, rs1558138741, rs1656646221, rs1485393201, rs1657976232, rs1657992342, rs1657997730, rs762070900, rs1660922779, rs1661140054, rs1661687852, rs1662771528, rs1558121260, rs1665132445, rs755032078, rs2032459600, rs769198746, rs2034852728, rs2036054600, rs757154662, rs766370703, rs2038566220, rs1195779037, rs2039690812, rs1362964563, rs1242866408, rs775776288, rs1278226911, rs1238123416, rs1689010156, rs200711686, rs1667504255, rs753619551, rs1558490060, rs866543181, rs770399625, rs1472199114, rs764109533, rs1415160298, rs2084785435, rs1402468701, rs984572250, rs768694789, rs1237954156, rs1737429976, rs373037737, rs759563967, rs751589956, rs774204108, rs1409801782, rs1768346880, rs772549804, rs1431427428, rs1770904723, rs909730457, rs1245121527, rs1767699695, rs1295206142, rs746499646, rs1766006937, rs779372264, rs749460193, rs371886218, rs1488237523, rs1806079331, rs1489149705, rs955766374, rs1210263161, rs2073701307, rs2073926924, rs1342475527, rs2067114709, rs2067115815, rs866524368, rs1186795749, rs2067127718, rs1569235565, rs2067136586, rs2067140471, rs2067144007, rs2067146007, rs1555961509, rs2067157388, rs2067160273, rs2067161139, rs2067163605, rs2067164096, rs2067169934, rs2067170858, rs2067172824, rs2067174697, rs1233849070, rs2067176160, rs2067176379, rs1373833359, rs1601922510, rs2067182354, rs2067182636, rs2067182990, rs2067183162, rs2067184023, rs2067185564, rs2067186632, rs2067186762, rs2067187127, rs2067187550, rs2067187618, rs2067188031, rs2067188111, rs2067190364, rs2067190922, rs2067191154, rs2067191335, rs2067191635, rs1305342570, rs2067193056, rs2067194648, rs1569237670, rs762837543, rs760287363, rs1235430504, rs1371160062, rs2031604509, rs1558244152, rs2034951427, rs912980910, rs1662599697, rs1005130980, rs1334444660, rs898144119, rs1383907349, rs1753232409, rs1769469813, rs1961362638, rs2073798309, rs2073961843, rs1836931186, rs1661659605, rs1645824187, rs1343680080, rs1660517678, rs765676754, rs1366609497, rs1656942613, rs1347261858, rs1685567937, rs1667513233, rs1805984836, rs2073842959, rs2067140574, rs2067148119, rs2067166789, rs2067179633, rs2067200470, rs1924900389, rs2034938852
Rod-cone dystrophy	Rod-Cone Dystrophy	rs267606641, rs199476133, rs193302849, rs777668842, rs775518991, rs752300607, rs142759730, rs756225251, rs536742386, rs1588830568, rs778907433
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Unknown
Disease term	Disease name	Evidence	References	Source
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Anus Neoplasms	Associate	35318824
Bardet Biedl Syndrome	Associate	10577922, 12016587, 12567324, 12677556, 15666242, 33964006, 35318824, 37031301, 37293956, 9227203
Bardet Biedl syndrome 4	Associate	35318824
Le Marec Bracq Picaud syndrome	Associate	35318824
Liver Cirrhosis	Associate	15666242
Malformations of Cortical Development Group II	Stimulate	18762586
Mental Disorders	Associate	18762586
Osteosarcoma	Associate	40389469
Polydactyly	Associate	15666242
Psychotic Disorders	Associate	18762586
Retinal Dystrophies	Associate	9227203
Schizophrenia	Associate	18762586
Urogenital Abnormalities	Associate	35318824