ANKS6 (ankyrin repeat and sterile alpha motif domain containing 6)

Gene

• Entrez ID: 203286
• Gene name: Ankyrin repeat and sterile alpha motif domain containing 6
• Gene symbol: ANKS6
• Synonyms (NCBI Gene): ANKRD14, NPHP16, PKDR1, SAMD6
• Disease Acronyms (UniProt): NPHP16
• Chromosome: 9
• Chromosome location: 9q22.33
• Summary: This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gen

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79073889	C>A,T	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs199851177	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs369437168	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs377750405	T>C	Benign, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs397514257	G>C	Pathogenic, likely-pathogenic	Intron variant
rs397514258	T>G	Pathogenic	Splice acceptor variant
rs587777024	CTTGACCGATG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777025	GAT>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs756090222	G>A,C	Pathogenic	Missense variant, genic upstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1554746855	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564228101	->TCCAAGCCGCCCAGTGAGTGCGGCC	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1588420907	CA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022581	hsa-miR-124-3p	Microarray	18668037
MIRT645462	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT645461	hsa-miR-4801	HITS-CLIP	23824327
MIRT645460	hsa-miR-3938	HITS-CLIP	23824327
MIRT645459	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT645458	hsa-miR-3915	HITS-CLIP	23824327
MIRT645457	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT645456	hsa-miR-4689	HITS-CLIP	23824327
MIRT645455	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT645454	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT645453	hsa-miR-8055	HITS-CLIP	23824327
MIRT645462	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT645461	hsa-miR-4801	HITS-CLIP	23824327
MIRT645460	hsa-miR-3938	HITS-CLIP	23824327
MIRT645459	hsa-miR-3928-3p	HITS-CLIP	23824327
MIRT645458	hsa-miR-3915	HITS-CLIP	23824327
MIRT645457	hsa-miR-1224-5p	HITS-CLIP	23824327
MIRT645456	hsa-miR-4689	HITS-CLIP	23824327
MIRT645455	hsa-miR-6858-5p	HITS-CLIP	23824327
MIRT645454	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT645453	hsa-miR-8055	HITS-CLIP	23824327
MIRT785426	hsa-miR-1253	CLIP-seq
MIRT785427	hsa-miR-1285	CLIP-seq
MIRT785428	hsa-miR-140-3p	CLIP-seq
MIRT785429	hsa-miR-1468	CLIP-seq
MIRT785430	hsa-miR-185	CLIP-seq
MIRT785431	hsa-miR-194	CLIP-seq
MIRT785432	hsa-miR-19a	CLIP-seq
MIRT785433	hsa-miR-19b	CLIP-seq
MIRT785434	hsa-miR-204	CLIP-seq
MIRT785435	hsa-miR-211	CLIP-seq
MIRT785436	hsa-miR-2115	CLIP-seq
MIRT785437	hsa-miR-24	CLIP-seq
MIRT785438	hsa-miR-2467-5p	CLIP-seq
MIRT785439	hsa-miR-298	CLIP-seq
MIRT785440	hsa-miR-302a	CLIP-seq
MIRT785441	hsa-miR-302b	CLIP-seq
MIRT785442	hsa-miR-302c	CLIP-seq
MIRT785443	hsa-miR-302d	CLIP-seq
MIRT785444	hsa-miR-302e	CLIP-seq
MIRT785445	hsa-miR-31	CLIP-seq
MIRT785446	hsa-miR-3120-3p	CLIP-seq
MIRT785447	hsa-miR-3154	CLIP-seq
MIRT785448	hsa-miR-3179	CLIP-seq
MIRT785449	hsa-miR-3187-5p	CLIP-seq
MIRT785450	hsa-miR-3194-5p	CLIP-seq
MIRT785451	hsa-miR-3202	CLIP-seq
MIRT785452	hsa-miR-326	CLIP-seq
MIRT785453	hsa-miR-330-5p	CLIP-seq
MIRT785454	hsa-miR-3678-3p	CLIP-seq
MIRT785455	hsa-miR-372	CLIP-seq
MIRT785456	hsa-miR-373	CLIP-seq
MIRT785457	hsa-miR-378g	CLIP-seq
MIRT785458	hsa-miR-383	CLIP-seq
MIRT785459	hsa-miR-3927	CLIP-seq
MIRT785460	hsa-miR-4271	CLIP-seq
MIRT785461	hsa-miR-4284	CLIP-seq
MIRT785462	hsa-miR-4306	CLIP-seq
MIRT785463	hsa-miR-4310	CLIP-seq
MIRT785464	hsa-miR-4311	CLIP-seq
MIRT785465	hsa-miR-4428	CLIP-seq
MIRT785466	hsa-miR-4451	CLIP-seq
MIRT785467	hsa-miR-4457	CLIP-seq
MIRT785468	hsa-miR-4474-3p	CLIP-seq
MIRT785469	hsa-miR-4486	CLIP-seq
MIRT785470	hsa-miR-4496	CLIP-seq
MIRT785471	hsa-miR-4539	CLIP-seq
MIRT785472	hsa-miR-4632	CLIP-seq
MIRT785473	hsa-miR-4644	CLIP-seq
MIRT785474	hsa-miR-4690-5p	CLIP-seq
MIRT785475	hsa-miR-4696	CLIP-seq
MIRT785476	hsa-miR-4700-3p	CLIP-seq
MIRT785477	hsa-miR-4725-3p	CLIP-seq
MIRT785478	hsa-miR-4738-3p	CLIP-seq
MIRT785479	hsa-miR-4747-5p	CLIP-seq
MIRT785480	hsa-miR-4753-3p	CLIP-seq
MIRT785481	hsa-miR-4755-5p	CLIP-seq
MIRT785482	hsa-miR-4761-5p	CLIP-seq
MIRT785483	hsa-miR-4766-5p	CLIP-seq
MIRT785484	hsa-miR-4778-5p	CLIP-seq
MIRT785485	hsa-miR-4780	CLIP-seq
MIRT785486	hsa-miR-4786-5p	CLIP-seq
MIRT785487	hsa-miR-4796-5p	CLIP-seq
MIRT785488	hsa-miR-513b	CLIP-seq
MIRT785489	hsa-miR-516a-3p	CLIP-seq
MIRT785490	hsa-miR-520a-3p	CLIP-seq
MIRT785491	hsa-miR-520b	CLIP-seq
MIRT785492	hsa-miR-520c-3p	CLIP-seq
MIRT785493	hsa-miR-520d-3p	CLIP-seq
MIRT785494	hsa-miR-520e	CLIP-seq
MIRT785495	hsa-miR-520f	CLIP-seq
MIRT785496	hsa-miR-545	CLIP-seq
MIRT785497	hsa-miR-548c-3p	CLIP-seq
MIRT785498	hsa-miR-548m	CLIP-seq
MIRT785499	hsa-miR-548p	CLIP-seq
MIRT785500	hsa-miR-612	CLIP-seq
MIRT785501	hsa-miR-623	CLIP-seq
MIRT785502	hsa-miR-642a	CLIP-seq
MIRT785503	hsa-miR-760	CLIP-seq
MIRT785504	hsa-miR-802	CLIP-seq
MIRT1931691	hsa-miR-1207-5p	CLIP-seq
MIRT1931692	hsa-miR-1234	CLIP-seq
MIRT1931693	hsa-miR-138	CLIP-seq
MIRT1931694	hsa-miR-1910	CLIP-seq
MIRT1931695	hsa-miR-1914	CLIP-seq
MIRT785434	hsa-miR-204	CLIP-seq
MIRT785435	hsa-miR-211	CLIP-seq
MIRT1931696	hsa-miR-2277-3p	CLIP-seq
MIRT785446	hsa-miR-3120-3p	CLIP-seq
MIRT1931697	hsa-miR-3120-5p	CLIP-seq
MIRT1931698	hsa-miR-3127-5p	CLIP-seq
MIRT1931699	hsa-miR-3132	CLIP-seq
MIRT1931700	hsa-miR-3136-3p	CLIP-seq
MIRT1931701	hsa-miR-3148	CLIP-seq
MIRT1931702	hsa-miR-3176	CLIP-seq
MIRT785448	hsa-miR-3179	CLIP-seq
MIRT1931703	hsa-miR-3182	CLIP-seq
MIRT1931704	hsa-miR-3190	CLIP-seq
MIRT1931705	hsa-miR-338-3p	CLIP-seq
MIRT1931706	hsa-miR-346	CLIP-seq
MIRT1931707	hsa-miR-3616-3p	CLIP-seq
MIRT1931708	hsa-miR-3659	CLIP-seq
MIRT1931709	hsa-miR-3918	CLIP-seq
MIRT1931710	hsa-miR-3919	CLIP-seq
MIRT1931711	hsa-miR-3922-3p	CLIP-seq
MIRT1931712	hsa-miR-3936	CLIP-seq
MIRT1931713	hsa-miR-3978	CLIP-seq
MIRT1931714	hsa-miR-4283	CLIP-seq
MIRT1931715	hsa-miR-4288	CLIP-seq
MIRT1931716	hsa-miR-4294	CLIP-seq
MIRT1931717	hsa-miR-4433	CLIP-seq
MIRT1931718	hsa-miR-4436b-3p	CLIP-seq
MIRT1931719	hsa-miR-4436b-5p	CLIP-seq
MIRT1931720	hsa-miR-4446-3p	CLIP-seq
MIRT1931721	hsa-miR-4489	CLIP-seq
MIRT1931722	hsa-miR-4492	CLIP-seq
MIRT1931723	hsa-miR-4498	CLIP-seq
MIRT1931724	hsa-miR-4505	CLIP-seq
MIRT1931725	hsa-miR-451b	CLIP-seq
MIRT1931726	hsa-miR-4641	CLIP-seq
MIRT1931727	hsa-miR-4652-3p	CLIP-seq
MIRT1931728	hsa-miR-4658	CLIP-seq
MIRT1931729	hsa-miR-4659a-5p	CLIP-seq
MIRT1931730	hsa-miR-4659b-5p	CLIP-seq
MIRT1931731	hsa-miR-4667-5p	CLIP-seq
MIRT1931732	hsa-miR-4675	CLIP-seq
MIRT1931733	hsa-miR-4677-3p	CLIP-seq
MIRT1931734	hsa-miR-4679	CLIP-seq
MIRT1931735	hsa-miR-4700-5p	CLIP-seq
MIRT1931736	hsa-miR-4701-5p	CLIP-seq
MIRT1931737	hsa-miR-4715-5p	CLIP-seq
MIRT1931738	hsa-miR-4727-5p	CLIP-seq
MIRT1931739	hsa-miR-4731-5p	CLIP-seq
MIRT1931740	hsa-miR-4741	CLIP-seq
MIRT1931741	hsa-miR-4755-3p	CLIP-seq
MIRT785481	hsa-miR-4755-5p	CLIP-seq
MIRT1931742	hsa-miR-4763-3p	CLIP-seq
MIRT1931743	hsa-miR-4769-3p	CLIP-seq
MIRT785487	hsa-miR-4796-5p	CLIP-seq
MIRT1931744	hsa-miR-4797-3p	CLIP-seq
MIRT1931745	hsa-miR-4798-5p	CLIP-seq
MIRT1931746	hsa-miR-486-3p	CLIP-seq
MIRT1931747	hsa-miR-488	CLIP-seq
MIRT1931748	hsa-miR-574-5p	CLIP-seq
MIRT1931749	hsa-miR-588	CLIP-seq
MIRT785501	hsa-miR-623	CLIP-seq
MIRT1931750	hsa-miR-632	CLIP-seq
MIRT1931751	hsa-miR-663b	CLIP-seq
MIRT1931752	hsa-miR-665	CLIP-seq
MIRT1931753	hsa-miR-762	CLIP-seq
MIRT1931754	hsa-miR-873	CLIP-seq
MIRT2172109	hsa-miR-1205	CLIP-seq
MIRT785429	hsa-miR-1468	CLIP-seq
MIRT1931694	hsa-miR-1910	CLIP-seq
MIRT1931695	hsa-miR-1914	CLIP-seq
MIRT785439	hsa-miR-298	CLIP-seq
MIRT2172110	hsa-miR-299-3p	CLIP-seq
MIRT2172111	hsa-miR-3124-3p	CLIP-seq
MIRT1931698	hsa-miR-3127-5p	CLIP-seq
MIRT2172112	hsa-miR-3144-5p	CLIP-seq
MIRT2172113	hsa-miR-3151	CLIP-seq
MIRT785447	hsa-miR-3154	CLIP-seq
MIRT1931703	hsa-miR-3182	CLIP-seq
MIRT1931704	hsa-miR-3190	CLIP-seq
MIRT2172114	hsa-miR-3191	CLIP-seq
MIRT2172115	hsa-miR-365	CLIP-seq
MIRT1931709	hsa-miR-3918	CLIP-seq
MIRT2172116	hsa-miR-3977	CLIP-seq
MIRT1931713	hsa-miR-3978	CLIP-seq
MIRT2172117	hsa-miR-4265	CLIP-seq
MIRT2172118	hsa-miR-4296	CLIP-seq
MIRT2172119	hsa-miR-4322	CLIP-seq
MIRT1931718	hsa-miR-4436b-3p	CLIP-seq
MIRT2172120	hsa-miR-4447	CLIP-seq
MIRT2172121	hsa-miR-4472	CLIP-seq
MIRT2172122	hsa-miR-4480	CLIP-seq
MIRT1931724	hsa-miR-4505	CLIP-seq
MIRT2172123	hsa-miR-4514	CLIP-seq
MIRT2172124	hsa-miR-4652-5p	CLIP-seq
MIRT1931731	hsa-miR-4667-5p	CLIP-seq
MIRT2172125	hsa-miR-4691-3p	CLIP-seq
MIRT2172126	hsa-miR-4692	CLIP-seq
MIRT1931735	hsa-miR-4700-5p	CLIP-seq
MIRT1931737	hsa-miR-4715-5p	CLIP-seq
MIRT1931739	hsa-miR-4731-5p	CLIP-seq
MIRT2172127	hsa-miR-491-5p	CLIP-seq
MIRT2172128	hsa-miR-581	CLIP-seq
MIRT2172129	hsa-miR-598	CLIP-seq
MIRT2172130	hsa-miR-625	CLIP-seq
MIRT785502	hsa-miR-642a	CLIP-seq
MIRT2172131	hsa-miR-940	CLIP-seq
MIRT2384234	hsa-miR-892a	CLIP-seq
MIRT785434	hsa-miR-204	CLIP-seq
MIRT785435	hsa-miR-211	CLIP-seq
MIRT1931702	hsa-miR-3176	CLIP-seq
MIRT1931703	hsa-miR-3182	CLIP-seq
MIRT1931707	hsa-miR-3616-3p	CLIP-seq
MIRT1931710	hsa-miR-3919	CLIP-seq
MIRT1931711	hsa-miR-3922-3p	CLIP-seq
MIRT1931718	hsa-miR-4436b-3p	CLIP-seq
MIRT2443735	hsa-miR-4659a-3p	CLIP-seq
MIRT2443736	hsa-miR-4659b-3p	CLIP-seq
MIRT2443737	hsa-miR-4721	CLIP-seq
MIRT785481	hsa-miR-4755-5p	CLIP-seq
MIRT2443738	hsa-miR-4757-5p	CLIP-seq
MIRT785485	hsa-miR-4780	CLIP-seq
MIRT785501	hsa-miR-623	CLIP-seq
MIRT2475113	hsa-miR-186	CLIP-seq
MIRT2475114	hsa-miR-30a	CLIP-seq
MIRT2475115	hsa-miR-30b	CLIP-seq
MIRT2475116	hsa-miR-30c	CLIP-seq
MIRT2475117	hsa-miR-30d	CLIP-seq
MIRT2475118	hsa-miR-30e	CLIP-seq
MIRT2475119	hsa-miR-4666-5p	CLIP-seq
MIRT1931745	hsa-miR-4798-5p	CLIP-seq
MIRT2475119	hsa-miR-4666-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0005515	Function	Protein binding	IPI	24998259, 32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007507	Process	Heart development	IEA
GO:0097543	Component	Ciliary inversin compartment	IEA

Other IDs

• MIM: 615370
• HGNC: 26724
• e!Ensembl: ENSG00000165138

Protein

• UniProt ID: Q68DC2
• Protein name: Ankyrin repeat and SAM domain-containing protein 6 (Ankyrin repeat domain-containing protein 14) (SamCystin) (Sterile alpha motif domain-containing protein 6) (SAM domain-containing protein 6)
• Protein function: Required for renal function.
• PDB: 4NL9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	13 → 141	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	148 → 255	Ankyrin repeats (3 copies)	Repeat
  PF13637	Ank_4	192 → 257		Repeat
  PF12796	Ank_2	294 → 390	Ankyrin repeats (3 copies)	Repeat
  PF00536	SAM_1	774 → 834	SAM domain (Sterile alpha motif)	Domain

• Sequence:

  MGEGGLPPAFQLLLRACDQGDTETARRLLEPGAAEPAERGAEPEAGAEPAGAEVAGPGAA
  AAGAVGAPVPVDCSDEAGNTALQFAAAGGHEPLVRFLLRRGASVNSRNHYGWSALMQAAR
  FGHVSVAHLLLDHGADVNAQNRLGASVLTVASRGGHLGVVKLLLEAGAFVDHHHPSGEQL
  GLGGSRDEPLDITALMAAIQHGHEAVVRLLMEWGADPNHAARTVGWSPLMLAALTGRLGV
  AQQLVEKGANPDHLSVLEKTAFEVALDCKHRDLVDYLDPLTTVRPKTDEEKRRPDIFHAL
  KMGNFQLVKEIADEDPSHVNLVNGDGATPLMLAAVTGQLALVQLLVERHADVDKQDSVHG
  WTALMQATYHGNKEIVKYLLNQGADVTLRAKNGYTAFDLVMLLNDPDTELVRLLASVCMQ
  VNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLS
  SNQPLPFSDEPEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPGSTRGEKEDTLLTTML
  RNGAPLTRLPSDKLKAVIPPFLPPSSFELWSSDRSRTRHNGKADPMKTALPQRASRGHPV
  GGGGTDTTPVRPVKFPSLPRSPASSANSGNFNHSPHSSGGSSGVGVSRHGGELLNRSGGS
  IDNVLSQIAAQRKKAAGLLEQKPSHRSSPVGPAPGSSPSELPASPAGGSAPVGKKLETSK
  RPPSGTSTTSKSTSPTLTPSPSPKGHTAESSVSSSSSHRQSKSSGGSSSGTITDEDELTG
  ILKKLSLEKYQPIFEEQEVDMEAFLTLTDGDLKELGIKTDGSRQQILAAISELNAGKGRE
  RQILQETIHNFHSSFESSASNTRAPGNSPCA

• Sequence length: 871

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Nephronophthisis	Nephronophthisis, Nephronophthisis, familial juvenile, NEPHRONOPHTHISIS 2, NEPHRONOPHTHISIS 16, Infantile nephronophthisis, Juvenile nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856, rs137852918, rs137852919, rs137852920, rs28940891, rs1278089386, rs137852922, rs137852923, rs1233478832, rs121907898, rs121907899, rs74315396, rs104893698, rs28936684, rs104893701, rs104893705, rs797044441, rs104893716, rs121964994, rs267607185, rs200844390, rs753348470, rs387906983, rs786205114, rs373909351, rs387907009, rs140511594, rs387907059, rs766132877, rs201188361, rs193922432, rs1565649749, rs387907309, rs387907310, rs387907311, rs145646425, rs397514728, rs397514257, rs587777024, rs587777025, rs397514258, rs375661404, rs398123285, rs398123538, rs398124546, rs368138001, rs587777350, rs587777351, rs587777352, rs587777486, rs879255575, rs368619022, rs879255576, rs587777487, rs369483167, rs587777488, rs587783011, rs144972972, rs727503968, rs727503969, rs730880299, rs757704417, rs760040426, rs758558609, rs755549444, rs763300393, rs794727964, rs182135982, rs758498695, rs775883520, rs777686211, rs756856188, rs777668842, rs756302731, rs751527253, rs138783896, rs869312915, rs769256610, rs878855332, rs376879175, rs878855335, rs886041154, rs886041637, rs766524637, rs769739938, rs201405662, rs376974221, rs201633414, rs1057519303, rs1057519304, rs202001274, rs1057519305, rs1057519306, rs752616462, rs1060499938, rs745340459, rs771215577, rs1064794347, rs201091657, rs771742823, rs1553484094, rs747861275, rs773521620, rs1456714047, rs1553773271, rs1555564134, rs752792782, rs398124289, rs1025515771, rs747052534, rs904520404, rs1553200990, rs1553178047, rs866982675, rs1182741031, rs1556026984, rs150001738, rs780247729, rs1555564214, rs372607453, rs61893682, rs549662742, rs774456004, rs1189889920, rs370210428, rs1557580413, rs1368105372, rs1559056633, rs765263671, rs1280238814, rs1560000875, rs1560002147, rs758238787, rs201237799, rs1560017690, rs1564123602, rs1425211517, rs369437168, rs764893412, rs747914869, rs778819060, rs1207804224, rs756090222, rs1564228101, rs1565455033, rs1322951938, rs1564236717, rs1565454034, rs375753623, rs374141736, rs1349732291, rs1017750255, rs1210874691, rs1379989124, rs1565582604, rs1485445500, rs758275952, rs1276839362, rs1576682880, rs1588420907, rs375416014, rs955421639, rs1596759273, rs755288504, rs1588153872, rs780020801, rs1576660495, rs1596088812, rs1576875819, rs779696701, rs759262253, rs775612958, rs1570504754, rs754862360, rs1679148969, rs1311042980, rs1682584195, rs753517219, rs1358793834, rs1560002113, rs1939543636, rs1205325321, rs1329661241, rs140611214, rs780500128, rs2061113374, rs1652115764, rs780148543, rs749866369, rs1459158279, rs756111113	23793029, 2379302
Polycystic kidney disease	Polycystic Kidney Diseases, Polycystic Kidney, Autosomal Dominant, Polycystic Kidney, Type 1 Autosomal Dominant Disease, Polycystic kidney disease, type 2	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096, rs199476097, rs199476098, rs1218054241, rs1567192790, rs1567204631, rs199476100, rs199476101, rs199476102, rs1555728968, rs774233325, rs757957327, rs121918519, rs121918520, rs1555725707, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs376586707, rs398122932, rs398123308, rs398124475, rs398124476, rs398124478, rs398124480, rs398124483, rs398124484, rs398124486, rs398124487, rs398124495, rs398124496, rs398124498, rs398124500, rs398124501, rs398124502, rs398124503, rs724159823, rs141178995, rs724159826, rs368263958, rs727504089, rs727504096, rs746838237, rs727504087, rs786204241, rs200391019, rs746471701, rs771623148, rs148617572, rs786204688, rs181208607, rs200179145, rs142107837, rs786204707, rs745770404, rs786204696, rs749293235, rs754392766, rs786204749, rs786204588, rs148812376, rs752868449, rs773136605, rs797044713, rs794727566, rs794727572, rs771180444, rs794727680, rs797044745, rs794727759, rs781368899, rs796052133, rs797045101, rs797044902, rs863224528, rs751527253, rs869312944, rs869312977, rs869312978, rs886039888, rs886040959, rs58606740, rs770461067, rs886041836, rs886042676, rs748365248, rs760222236, rs886061616, rs886061619, rs886061623, rs1057516041, rs1057516201, rs1057516202, rs1057516206, rs1057517324, rs199839578, rs1057517047, rs1057516652, rs1057516345, rs1057517326, rs1057516835, rs1057517249, rs760260903, rs1057517071, rs757099749, rs1057517357, rs751754608, rs1057516577, rs1057516445, rs1057516413, rs1057517387, rs1057517244, rs749768205, rs1057516775, rs1057516490, rs1057516607, rs1057516690, rs1057517078, rs1057516751, rs1057516588, rs1057516596, rs1057516221, rs1057516441, rs760921148, rs1057516706, rs1057517378, rs1057516804, rs1057516407, rs777999875, rs774759689, rs1057516692, rs1057516885, rs267601070, rs1057516626, rs1057516263, rs1057516691, rs1057516382, rs778537772, rs1057516594, rs1057517273, rs1057516762, rs1057516982, rs1057516922, rs774250209, rs1057516872, rs1057516283, rs1057517394, rs1057516562, rs1057516709, rs1057517158, rs1057516608, rs1057516975, rs1057517178, rs1057516768, rs757521428, rs1057516697, rs1057517270, rs773991918, rs1057517220, rs1057518604, rs1057518906, rs1057518797, rs1057518969, rs1057518959, rs1057518897, rs1057518783, rs566014072, rs1057518899, rs1057518923, rs180675584, rs1057524563, rs200001068, rs1553924174, rs1060499718, rs369825780, rs1060499704, rs1060499702, rs539793378, rs1060499699, rs1060503526, rs751084512, rs369925690, rs1060501356, rs1064796287, rs1064794206, rs1064797205, rs1114167370, rs1114167366, rs1555452653, rs1020621286, rs1131692280, rs1135401753, rs555349004, rs1135402754, rs1135402755, rs1135402756, rs757946548, rs1555455453, rs1555456661, rs1553924173, rs1553925470, rs1210846081, rs1554218506, rs1045675831, rs1555444334, rs766551411, rs1555445192, rs1325300747, rs777460677, rs1555450424, rs1555451093, rs1555451280, rs1222094213, rs1555453360, rs752114168, rs1555453872, rs1555454145, rs1555454411, rs1555454512, rs1555454604, rs1555455998, rs747483368, rs750798165, rs1553928730, rs1554282540, rs1555446053, rs745912756, rs1555447196, rs1453883641, rs1555454886, rs1555457482, rs1553923513, rs867092741, rs1555446576, rs1555454353, rs1555456139, rs1555457446, rs1555458032, rs1555462463, rs1555450968, rs1555444715, rs1261505725, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1555444985, rs1161012209, rs1555445274, rs1555445771, rs1555446411, rs1555451143, rs1555451430, rs1555453395, rs1555455457, rs1555456208, rs1555459108, rs1555462438, rs1555445999, rs1555457807, rs1553927436, rs1555454373, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs1554194574, rs1344820986, rs1246693314, rs1554167673, rs1554183398, rs1554183559, rs1554144359, rs1555444249, rs1555450475, rs1555448106, rs1555446033, rs1555454915, rs1286585831, rs780009030, rs201082169, rs1555728990, rs1554204054, rs1554212326, rs910497248, rs1554198072, rs1555453207, rs1554223950, rs1554220431, rs1555454460, rs367678592, rs1555447011, rs1553925459, rs1553925467, rs1554236269, rs1554263076, rs1555445585, rs1555446582, rs1555446637, rs1555447057, rs1420757773, rs1555450920, rs762003393, rs1555454075, rs1555454606, rs1555455797, rs1555456744, rs1401015526, rs1555459001, rs1555459084, rs1282205691, rs1553927823, rs777269070, rs369678636, rs1555454739, rs1302726543, rs1554198780, rs758732107, rs747322128, rs1554200780, rs1358948221, rs1555452400, rs144193508, rs1488844530, rs1554169567, rs1554174796, rs1554176343, rs1554183235, rs1554183240, rs1554216538, rs770068023, rs1554221465, rs1554232224, rs1334913120, rs1554191298, rs1554194504, rs770522674, rs1554197152, rs868673401, rs1554210085, rs1554213853, rs1554227278, rs1554228601, rs1554183012, rs1554183763, rs765209037, rs1554217691, rs1554218666, rs759851475, rs1554174903, rs1554176517, rs1554183204, rs1554243821, rs1554289495, rs1554183320, rs1554133736, rs1554218519, rs1554218926, rs1405067373, rs1351918391, rs1554199349, rs1160209891, rs1554183446, rs1554183480, rs1554183588, rs1554208257, rs1554209188, rs1554216499, rs1554271235, rs1554223403, rs1554282419, rs1554224707, rs1554227162, rs1554216571, rs1554229312, rs1554299291, rs376987651, rs1340926191, rs1554132790, rs1554194511, rs1554270880, rs1554198717, rs1554199226, rs1554200778, rs1240212722, rs776060304, rs747895516, rs1554134080, rs1554211308, rs758352210, rs1554212403, rs748540413, rs1554207834, rs750730042, rs1554219449, rs753492974, rs1554222939, rs1554219429, rs1554222508, rs775511838, rs1555452849, rs1554162725, rs1554227215, rs1567155145, rs1567159074, rs1567177684, rs1567200516, rs1567173924, rs1324209174, rs1485297878, rs1560626561, rs1264176877, rs2432403, rs1560626499, rs1567176750, rs1567180640, rs752024467, rs1567204146, rs1567153758, rs1567210630, rs1352019198, rs555242193, rs1567195059, rs1371793191, rs1616940, rs1567212531, rs1567186165, rs749004212, rs1167476946, rs1567215646, rs755496450, rs1567195285, rs1567169638, rs1391596181, rs1561920869, rs764696718, rs146649803, rs1560592253, rs1561921358, rs775638588, rs1560632930, rs1567153194, rs1197421698, rs1567166045, rs1567174997, rs1567180636, rs1567186946, rs1567191601, rs1567191609, rs1567192229, rs1567200117, rs1567202750, rs778028967, rs1567210080, rs775710328, rs750723025, rs1567191179, rs1567219527, rs1562221540, rs769559267, rs868562051, rs752305132, rs760426769, rs1562581286, rs1560608729, rs1560620277, rs1560628245, rs1567146946, rs1567165997, rs750780241, rs1567202350, rs1567206904, rs1567216323, rs1567219111, rs1377414968, rs1578144898, rs778235410, rs1181168635, rs1567155179, rs1361283193, rs1364976535, rs1567182193, rs1567184366, rs1567187445, rs1567191534, rs1567196314, rs1567201083, rs774453006, rs144513458, rs1567192286, rs1567190244, rs773129632, rs1560617356, rs1273202231, rs1567196052, rs1325403863, rs1592341222, rs199568593, rs765390756, rs780182068, rs148300854, rs765652131, rs1562140771, rs779050294, rs557437764, rs1485161784, rs752327566, rs1578130597, rs1578135829, rs1582469538, rs1582470309, rs1596472276, rs1596473420, rs1596485727, rs200001471, rs1596557533, rs1205064584, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs200432861, rs1581808463, rs1581827172, rs367707903, rs764431330, rs1596512729, rs1596520985, rs1596522636, rs1596523677, rs757768731, rs750913623, rs1596557065, rs1596558405, rs1238351274, rs1567200098, rs1596560540, rs1596575646, rs1596591955, rs1583202788, rs753471298, rs1596536505, rs112915100, rs1581812192, rs1596525695, rs1596551138, rs1578135823, rs1578111620, rs1334145215, rs1582436832, rs1242089464, rs775628123, rs1583013487, rs1583053996, rs1583054534, rs1581727260, rs1581806935, rs767737392, rs1581956689, rs1278235097, rs754038777, rs1582064844, rs1295732689, rs1596536546, rs145877597, rs1581910835, rs1203260419, rs1581999471, rs1596475487, rs747638599, rs1596557266, rs34495017, rs1596561773, rs1596574774, rs1174034883, rs1596580483, rs794727756, rs1578111345, rs1578135870, rs1276594505, rs1596481464, rs1596501760, rs377029031, rs138871063, rs1596548114, rs1596556800, rs202110519, rs555703777, rs1596582948, rs1582441668, rs1596482597, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs756212622, rs1596480112, rs1327414405, rs1596488823, rs1596503384, rs1596514027, rs1596527579, rs1555453244, rs1312494071, rs1596553527, rs1596556375, rs1596557742, rs145263744, rs1596563657, rs1596588978, rs1581910796, rs754626014, rs1183281205, rs752889346, rs765020336, rs1582479341, rs779168950, rs746625317, rs1582925274, rs1583203255, rs1581726525, rs1581763359, rs908880474, rs1464962854, rs1226122841, rs1581810497, rs1581974348, rs780898021, rs1581992845, rs1582002018, rs1582013246, rs1582053820, rs1582085757, rs1350620976, rs1582154630, rs1596574987, rs1578111378, rs1578141765, rs1446729264, rs764447736, rs1578118371, rs1578142941, rs1596485991, rs1596514864, rs1596527744, rs1596566156, rs1416011785, rs747170980, rs1768958447, rs765934021, rs1772510920, rs1785437689, rs1790936941, rs1473182306, rs1436814142, rs1782064827, rs1782629977, rs774290802, rs1313206550, rs779028446, rs1433540169, rs1802073525, rs1802504786, rs1802523270, rs1805754682, rs776845008, rs1809305398, rs1810924520, rs1781631365, rs1803834984, rs774050795, rs2092203712, rs1452322332, rs753261451, rs2092939625, rs1726231891, rs1726245372, rs1726673986, rs1727326556, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs2091395464, rs2091400717, rs2091472604, rs2091483332, rs1555445229, rs2091600536, rs2091614437, rs2091619053, rs2091620763, rs2091668243, rs2092026801, rs2092206577, rs779516086, rs151308544, rs2092301272, rs778979740, rs2092333316, rs2092341848, rs2092343570, rs2092347343, rs765688834, rs546354639, rs1485307916, rs762911981, rs2092458566, rs2092471431, rs2047525622, rs2092479999, rs2092485909, rs2092503169, rs2092503653, rs755084885, rs1231492796, rs2092598385, rs2092604612, rs2092615974, rs2092660457, rs2092665584, rs2092667308, rs2092672595, rs2092679105, rs2092683596, rs2092941253, rs2091453268, rs2091612821, rs2092263886, rs2092614697, rs2092646077, rs2092684358	12089381
Renal insufficiency	Renal Insufficiency	rs1596536873
Situs inversus	Situs Inversus	rs528302390, rs1596264554	23793029

Unknown
Disease term	Disease name	Evidence	References	Source
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	34069769
Chronic Kidney Disease Mineral and Bone Disorder	Associate	24610927
Cleft Lip	Associate	18978678
Congenital Abnormalities	Associate	18978678
Kidney Diseases	Associate	39596574
Kidney Failure Chronic	Associate	24610927
Nephritis Interstitial	Associate	24610927
Nephronophthisis familial juvenile	Associate	17617513, 24610927, 32994509, 39596574
Polycystic Kidney Diseases	Associate	39596574