LZTFL1 (leucine zipper transcription factor like 1)

Gene

• Entrez ID: 54585
• Gene name: Leucine zipper transcription factor like 1
• Gene symbol: LZTFL1
• Synonyms (NCBI Gene): BBS17
• Disease Acronyms (UniProt): BBS17
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary memb

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs431825171	CTTTG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs515726135	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs769327864	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1354476372	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant, 5 prime UTR variant
rs1553612629	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002741	hsa-miR-1-3p	Microarray	15685193
MIRT017804	hsa-miR-335-5p	Microarray	18185580
MIRT002741	hsa-miR-1-3p	Microarray;Other	15685193
MIRT755573	miR-155	qRT-PCR	35992785
MIRT1124384	hsa-miR-1237	CLIP-seq
MIRT1124385	hsa-miR-198	CLIP-seq
MIRT1124386	hsa-miR-208a	CLIP-seq
MIRT1124387	hsa-miR-208b	CLIP-seq
MIRT1124388	hsa-miR-3160-5p	CLIP-seq
MIRT1124389	hsa-miR-3182	CLIP-seq
MIRT1124390	hsa-miR-3657	CLIP-seq
MIRT1124391	hsa-miR-3672	CLIP-seq
MIRT1124392	hsa-miR-3922-5p	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT1124394	hsa-miR-4297	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT1124397	hsa-miR-4669	CLIP-seq
MIRT1124398	hsa-miR-4682	CLIP-seq
MIRT1124399	hsa-miR-4729	CLIP-seq
MIRT1124400	hsa-miR-4778-5p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT1124403	hsa-miR-544b	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT1124405	hsa-miR-935	CLIP-seq
MIRT2035144	hsa-miR-2115	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2035146	hsa-miR-3125	CLIP-seq
MIRT2035147	hsa-miR-3180-5p	CLIP-seq
MIRT2035148	hsa-miR-34c-3p	CLIP-seq
MIRT2035149	hsa-miR-3914	CLIP-seq
MIRT2035150	hsa-miR-3916	CLIP-seq
MIRT2035151	hsa-miR-4464	CLIP-seq
MIRT2035152	hsa-miR-4748	CLIP-seq
MIRT2035153	hsa-miR-520a-5p	CLIP-seq
MIRT2035154	hsa-miR-525-5p	CLIP-seq
MIRT2265579	hsa-miR-1183	CLIP-seq
MIRT2265580	hsa-miR-1246	CLIP-seq
MIRT2265581	hsa-miR-1290	CLIP-seq
MIRT1124385	hsa-miR-198	CLIP-seq
MIRT2035144	hsa-miR-2115	CLIP-seq
MIRT2265582	hsa-miR-297	CLIP-seq
MIRT2035146	hsa-miR-3125	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2265584	hsa-miR-3149	CLIP-seq
MIRT2265585	hsa-miR-3167	CLIP-seq
MIRT2035147	hsa-miR-3180-5p	CLIP-seq
MIRT2265586	hsa-miR-34b	CLIP-seq
MIRT2035148	hsa-miR-34c-3p	CLIP-seq
MIRT1124391	hsa-miR-3672	CLIP-seq
MIRT2035150	hsa-miR-3916	CLIP-seq
MIRT2265587	hsa-miR-4263	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT2265588	hsa-miR-4307	CLIP-seq
MIRT2035151	hsa-miR-4464	CLIP-seq
MIRT2265589	hsa-miR-4536	CLIP-seq
MIRT1124398	hsa-miR-4682	CLIP-seq
MIRT1124399	hsa-miR-4729	CLIP-seq
MIRT2035152	hsa-miR-4748	CLIP-seq
MIRT2265590	hsa-miR-4768-5p	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT1124400	hsa-miR-4778-5p	CLIP-seq
MIRT2265592	hsa-miR-4799-5p	CLIP-seq
MIRT2035153	hsa-miR-520a-5p	CLIP-seq
MIRT2035154	hsa-miR-525-5p	CLIP-seq
MIRT1124403	hsa-miR-544b	CLIP-seq
MIRT2265593	hsa-miR-548g	CLIP-seq
MIRT2265594	hsa-miR-567	CLIP-seq
MIRT2265595	hsa-miR-576-5p	CLIP-seq
MIRT2265596	hsa-miR-643	CLIP-seq
MIRT2265597	hsa-miR-876-5p	CLIP-seq
MIRT2265598	hsa-miR-885-5p	CLIP-seq
MIRT2390431	hsa-miR-185	CLIP-seq
MIRT2390432	hsa-miR-4306	CLIP-seq
MIRT2390433	hsa-miR-4644	CLIP-seq
MIRT2564924	hsa-miR-1	CLIP-seq
MIRT2564925	hsa-miR-1236	CLIP-seq
MIRT1124384	hsa-miR-1237	CLIP-seq
MIRT2265580	hsa-miR-1246	CLIP-seq
MIRT2564926	hsa-miR-1248	CLIP-seq
MIRT2564927	hsa-miR-1260	CLIP-seq
MIRT2564928	hsa-miR-1260b	CLIP-seq
MIRT2564929	hsa-miR-1270	CLIP-seq
MIRT2265581	hsa-miR-1290	CLIP-seq
MIRT2564930	hsa-miR-129-3p	CLIP-seq
MIRT2564931	hsa-miR-1305	CLIP-seq
MIRT2564932	hsa-miR-1321	CLIP-seq
MIRT2564933	hsa-miR-133a	CLIP-seq
MIRT2564934	hsa-miR-133b	CLIP-seq
MIRT2564935	hsa-miR-137	CLIP-seq
MIRT2564936	hsa-miR-148a	CLIP-seq
MIRT2564937	hsa-miR-148b	CLIP-seq
MIRT2564938	hsa-miR-152	CLIP-seq
MIRT2390431	hsa-miR-185	CLIP-seq
MIRT2564939	hsa-miR-186	CLIP-seq
MIRT2564940	hsa-miR-188-3p	CLIP-seq
MIRT2564941	hsa-miR-206	CLIP-seq
MIRT2564942	hsa-miR-216b	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2564943	hsa-miR-3124-3p	CLIP-seq
MIRT2564944	hsa-miR-3126-5p	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2564945	hsa-miR-3140-3p	CLIP-seq
MIRT2564946	hsa-miR-3148	CLIP-seq
MIRT2564947	hsa-miR-3156-3p	CLIP-seq
MIRT2564948	hsa-miR-3162-5p	CLIP-seq
MIRT2265585	hsa-miR-3167	CLIP-seq
MIRT2564949	hsa-miR-3607-3p	CLIP-seq
MIRT2564950	hsa-miR-3607-5p	CLIP-seq
MIRT2564951	hsa-miR-362-5p	CLIP-seq
MIRT2564952	hsa-miR-3673	CLIP-seq
MIRT2564953	hsa-miR-376c	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT2564954	hsa-miR-4301	CLIP-seq
MIRT1124395	hsa-miR-4303	CLIP-seq
MIRT2390432	hsa-miR-4306	CLIP-seq
MIRT2564955	hsa-miR-4419a	CLIP-seq
MIRT2564956	hsa-miR-4427	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT2564957	hsa-miR-4493	CLIP-seq
MIRT2564958	hsa-miR-4501	CLIP-seq
MIRT2564959	hsa-miR-4510	CLIP-seq
MIRT2564960	hsa-miR-4517	CLIP-seq
MIRT2564961	hsa-miR-4522	CLIP-seq
MIRT2564962	hsa-miR-4531	CLIP-seq
MIRT2390433	hsa-miR-4644	CLIP-seq
MIRT2564963	hsa-miR-4649-3p	CLIP-seq
MIRT2564964	hsa-miR-4662a-5p	CLIP-seq
MIRT2564965	hsa-miR-4680-3p	CLIP-seq
MIRT2564966	hsa-miR-4687-5p	CLIP-seq
MIRT2564967	hsa-miR-4698	CLIP-seq
MIRT2564968	hsa-miR-4704-5p	CLIP-seq
MIRT2564969	hsa-miR-4717-5p	CLIP-seq
MIRT2564970	hsa-miR-4718	CLIP-seq
MIRT2564971	hsa-miR-4739	CLIP-seq
MIRT2564972	hsa-miR-4753-5p	CLIP-seq
MIRT2564973	hsa-miR-4756-5p	CLIP-seq
MIRT2564974	hsa-miR-4762-3p	CLIP-seq
MIRT2564975	hsa-miR-4773	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT2564976	hsa-miR-4790-3p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT2564977	hsa-miR-500b	CLIP-seq
MIRT2564978	hsa-miR-501-5p	CLIP-seq
MIRT2564979	hsa-miR-516b	CLIP-seq
MIRT2564980	hsa-miR-548a-5p	CLIP-seq
MIRT2564981	hsa-miR-548ab	CLIP-seq
MIRT2564982	hsa-miR-548ak	CLIP-seq
MIRT2564983	hsa-miR-548b-5p	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT2564984	hsa-miR-548c-5p	CLIP-seq
MIRT2564985	hsa-miR-548d-5p	CLIP-seq
MIRT2564986	hsa-miR-548h	CLIP-seq
MIRT2564987	hsa-miR-548i	CLIP-seq
MIRT2564988	hsa-miR-548j	CLIP-seq
MIRT2564989	hsa-miR-548n	CLIP-seq
MIRT2564990	hsa-miR-548w	CLIP-seq
MIRT2564991	hsa-miR-548y	CLIP-seq
MIRT2564992	hsa-miR-559	CLIP-seq
MIRT2564993	hsa-miR-607	CLIP-seq
MIRT2564994	hsa-miR-610	CLIP-seq
MIRT2564995	hsa-miR-613	CLIP-seq
MIRT2564996	hsa-miR-620	CLIP-seq
MIRT2265597	hsa-miR-876-5p	CLIP-seq
MIRT2564997	hsa-miR-889	CLIP-seq
MIRT2564925	hsa-miR-1236	CLIP-seq
MIRT2564927	hsa-miR-1260	CLIP-seq
MIRT2564928	hsa-miR-1260b	CLIP-seq
MIRT2564930	hsa-miR-129-3p	CLIP-seq
MIRT2564932	hsa-miR-1321	CLIP-seq
MIRT2564936	hsa-miR-148a	CLIP-seq
MIRT2564937	hsa-miR-148b	CLIP-seq
MIRT2564938	hsa-miR-152	CLIP-seq
MIRT2564939	hsa-miR-186	CLIP-seq
MIRT2564940	hsa-miR-188-3p	CLIP-seq
MIRT2564942	hsa-miR-216b	CLIP-seq
MIRT2265582	hsa-miR-297	CLIP-seq
MIRT2035145	hsa-miR-298	CLIP-seq
MIRT2265583	hsa-miR-3133	CLIP-seq
MIRT2564946	hsa-miR-3148	CLIP-seq
MIRT2265584	hsa-miR-3149	CLIP-seq
MIRT2564947	hsa-miR-3156-3p	CLIP-seq
MIRT2564948	hsa-miR-3162-5p	CLIP-seq
MIRT2564949	hsa-miR-3607-3p	CLIP-seq
MIRT2564950	hsa-miR-3607-5p	CLIP-seq
MIRT1124393	hsa-miR-4264	CLIP-seq
MIRT2564954	hsa-miR-4301	CLIP-seq
MIRT2265588	hsa-miR-4307	CLIP-seq
MIRT1124396	hsa-miR-4432	CLIP-seq
MIRT2564957	hsa-miR-4493	CLIP-seq
MIRT2564961	hsa-miR-4522	CLIP-seq
MIRT2265589	hsa-miR-4536	CLIP-seq
MIRT2564964	hsa-miR-4662a-5p	CLIP-seq
MIRT2564966	hsa-miR-4687-5p	CLIP-seq
MIRT2564968	hsa-miR-4704-5p	CLIP-seq
MIRT2564969	hsa-miR-4717-5p	CLIP-seq
MIRT2564970	hsa-miR-4718	CLIP-seq
MIRT2564971	hsa-miR-4739	CLIP-seq
MIRT2564972	hsa-miR-4753-5p	CLIP-seq
MIRT2564973	hsa-miR-4756-5p	CLIP-seq
MIRT2564974	hsa-miR-4762-3p	CLIP-seq
MIRT2265591	hsa-miR-4778-3p	CLIP-seq
MIRT2564976	hsa-miR-4790-3p	CLIP-seq
MIRT1124401	hsa-miR-4797-3p	CLIP-seq
MIRT1124402	hsa-miR-499-5p	CLIP-seq
MIRT2564979	hsa-miR-516b	CLIP-seq
MIRT1124404	hsa-miR-548c-3p	CLIP-seq
MIRT2265594	hsa-miR-567	CLIP-seq
MIRT2564994	hsa-miR-610	CLIP-seq
MIRT2265596	hsa-miR-643	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22072986, 25416956, 27173435, 28514442, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0042802	Function	Identical protein binding	IPI	22072986, 25416956, 27107012, 32296183
GO:0044877	Function	Protein-containing complex binding	IDA	24550735
GO:1903565	Process	Negative regulation of protein localization to cilium	IBA	21873635
GO:1903565	Process	Negative regulation of protein localization to cilium	IMP	22072986
GO:1903568	Process	Negative regulation of protein localization to ciliary membrane	IMP	22072986

Other IDs

• MIM: 606568
• HGNC: 6741
• e!Ensembl: ENSG00000163818

Protein

• UniProt ID: Q9NQ48
• Protein name: Leucine zipper transcription factor-like protein 1
• Protein function: Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppres
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15294	Leu_zip	20 → 294	Leucine zipper	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal m
• Sequence:

  MAELGLNEHHQNEVINYMRFARSKRGLRLKTVDSCFQDLKESRLVEDTFTIDEVSEVLNG
  LQAVVHSEVESELINTAYTNVLLLRQLFAQAEKWYLKLQTDISELENRELLEQVAEFEKA
  EITSSNKKPILDVTKPKLAPLNEGGTAELLNKEILRLQEENEKLKSRLKTIEIQATNALD
  EKSKLEKALQDLQLDQGNQKDFIKAQDLSNLENTVAALKSEFQKTLNDKTENQKSLEENL
  ATAKHDLLRVQEQLHMAEKELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED

• Sequence length: 299

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 17, 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	22510444, 23692385, 27312011
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
Cone-rod dystrophy	Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
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	23692385
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, 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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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rs1601891967, rs1601892395, rs1601926125, rs1601943227, rs1601943268, rs1601943462, rs1602347792, rs1602349705, rs1603288875, rs754970095, rs1573592124, rs1573607809, rs1578097528, rs781377291, rs781616522, rs1581211727, rs1432643009, rs1167742176, rs1562998089, rs1422250479, rs762276925, rs1596976316, rs1600340117, rs1057520752, rs1601890980, rs62638627, rs1602653742, rs1571523755, rs1571525390, rs140260219, rs1571623023, rs1571170561, rs754899711, rs1572934951, rs1578491064, rs1578860254, rs1302809734, rs1581744084, rs1582764878, rs1584179629, rs1585561400, rs1591277785, rs762326108, rs777420525, rs1238109100, rs62638648, rs1576623563, rs1589420011, rs1597331616, rs201205811, rs763324776, rs770984400, rs760858249, rs748863844, rs770329105, rs772748858, rs1187991259, rs1281095503, rs1231668679, rs767882032, rs1225304963, rs371032798, rs1345460401, rs200387832, rs1293202153, rs1574426870, rs776204925, rs758899480, rs1582079626, rs776564041, rs1602190224, rs751413984, rs769723975, rs1584799745, rs776206391, rs1300041533, rs747512450, rs1571158279, rs561075447, rs1571878277, rs745348555, rs1571557864, rs1450635782, rs62635649, rs1571783742, rs759433119, rs1415484067, rs1415157305, rs752058510, rs1573613491, rs774577413, rs778383770, rs746291728, rs1003615909, rs1578278088, rs1578278417, rs371288618, rs1578281565, rs1578281706, rs373680665, rs1355802816, rs745704627, rs374017889, rs1037963003, rs1577301589, rs1577311264, rs1581164958, rs375659222, rs769824975, rs1582140331, rs902462590, rs983691310, rs1562079278, rs1305702728, rs928803207, rs1583260302, rs1583277585, rs1391928253, rs1583442540, rs1582176424, rs760283610, rs770659908, rs1585564369, rs1246790145, rs1589337745, rs888090139, rs1596997875, rs1597223214, rs1600324262, rs1600324442, rs1439576531, rs1600335289, rs1600337158, rs764232082, rs1600350656, rs1601917999, rs1601922202, rs1601923813, rs1601924184, rs1601947074, rs1601961064, rs1601974881, rs1601978817, rs1601978823, rs1601978925, rs1601982532, rs1602347637, rs1602355025, rs1600334904, rs1572027164, rs111033408, rs1571703801, rs1572827477, rs755429480, rs1600335148, rs1254494198, rs1601922877, rs1601924111, rs1589590737, rs1573627154, rs1573638426, rs778005207, rs1424131846, rs1582929649, rs1572263404, rs1582139965, rs1571848659, rs1571848744, rs1571524269, rs768905244, rs1571540258, rs760544654, rs1571681377, rs1571715796, rs768158580, rs368687374, rs1571805235, rs1557600322, rs1571253050, rs779743222, rs1574489337, rs1285501658, rs369937337, rs774215025, rs1572829514, rs1572875669, rs1316281505, rs1578279746, rs1578280574, rs1578280588, rs377600857, rs1575415957, rs1293620319, rs1578059695, rs759079269, rs1560621807, rs1577288305, rs1581164936, rs1581166539, rs1581217626, rs1581727126, rs1581738478, rs763272975, rs375978676, rs1582139184, rs1582139308, rs1168129071, rs1582146096, rs1582930081, rs1582932583, rs749103801, rs1582376398, rs1584728115, rs1585559122, rs1585563283, rs1585563328, rs1587620892, rs794726954, 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rs1661098509, rs1676223605, rs1676864299, rs748204331, rs1671239184, rs1706625164, rs1706833794, rs1707008452, rs2058802102, rs1717541693, rs1738719686, rs867483436, rs1734061767, rs1736425011, rs1736426982, rs1737229618, rs1737442897, rs1761073125, rs1752838269, rs1754418004, rs1773160727, rs986748364, rs1761908297, rs1488052513, rs1769471082, rs1455826633, rs1766367970, rs1300490966, rs1768038999, rs368159852, rs1766217655, rs1286660951, rs1238921380, rs1784160131, rs886210482, rs1806033536, rs1806033844, rs1806128576, rs1205613982, rs1830219226, rs777019428, rs1555210929, rs1836974640, rs1856758582, rs2036808766, rs1163040913, rs745934202, rs1257334132, rs2054205040, rs2051588436, rs2074970792, rs2073701678, rs2073702243, rs2073704298, rs2073708638, rs2073818085, rs1411470197, rs2073962058, rs2073962186, rs2073964950, rs1314226094, rs2073970897, rs2073971805, rs2067117666, rs2067124487, rs2067127275, rs2067159265, rs2067175855, rs2067180233, rs1854473658, rs2067185063, rs2067191541, rs2067192032, rs2067193671, rs2067194747, rs2067198376, rs2067203546, rs1601943325, rs2067498051, rs2067562201, rs2067845149, rs2067985165, rs2067987832, rs1924521431, rs1924897691, rs1924907742, rs1925391988, rs2037140260, rs2031451980, rs1358947010, rs1470798497, rs1601920131, rs34713174, rs1571948114, rs774677256, rs1581186849, rs1601920532, rs1578280614, rs1601951595, rs1585959862, rs748984657, rs1585963931, rs1572879569, rs201070350, rs1571805164, rs768445391, rs1044562973, rs1572829010, rs768837125, rs1582249186, rs1585569717, rs151141842, rs1600356790, rs778731851, rs369184026, rs1665487563, rs1657798642, rs771260365, rs750321557, rs767328784, rs1662880750, rs1424639717, rs1664846292, rs1667471296, rs769609970, rs2032072206, rs201529124, rs2034899784, rs1364987785, rs1191816747, rs780007963, rs1487540503, rs188492864, rs1688308445, rs1476585944, rs769632183, rs748396645, rs772325487, rs769445913, rs1673040470, rs2063883437, rs2084776162, rs2084776365, rs777851867, rs772867912, 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

Unknown
Disease term	Disease name	Evidence	References	Source
Bardet-Biedl Syndrome	Bardet-Biedl syndrome			GenCC
Multiple Sclerosis	Multiple Sclerosis			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Bardet Biedl Syndrome	Associate	12677556, 37239474
Carcinoma Renal Cell	Inhibit	36966254
Chemical and Drug Induced Liver Injury	Associate	34597274
Coronary Disease	Associate	37964352
COVID 19	Associate	32558485, 32899439, 33396837, 33453462, 34118974, 34597274, 34673571, 34737427, 35196333, 35212764, 35753602, 37085563, 37160831, 37497655, 37795896, 37964352, 39344392
COVID 19	Stimulate	33604698
Kidney Neoplasms	Inhibit	36966254
Neoplasms	Associate	30552230, 31912669
Neoplasms	Inhibit	36966254
Obesity	Associate	39344392
Polyps	Associate	37085563
Post Acute COVID 19 Syndrome	Stimulate	37497655
Respiratory Insufficiency	Associate	34597274, 35196333
Venous Thromboembolism	Associate	34597274