IFT80 (intraflagellar transport 80)

Gene

• Entrez ID: 57560
• Gene name: Intraflagellar transport 80
• Gene symbol: IFT80
• Synonyms (NCBI Gene): ATD2, CFAP167, FAP167, SRTD2, WDR56
• Disease Acronyms (UniProt): SRTD2
• Chromosome: 3
• Chromosome location: 3q25.33
• Summary: The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encod

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019786	hsa-miR-375	Microarray	20215506
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061101	hsa-miR-1298	CLIP-seq
MIRT1061102	hsa-miR-1303	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT1061107	hsa-miR-3125	CLIP-seq
MIRT1061108	hsa-miR-320a	CLIP-seq
MIRT1061109	hsa-miR-320b	CLIP-seq
MIRT1061110	hsa-miR-320c	CLIP-seq
MIRT1061111	hsa-miR-320d	CLIP-seq
MIRT1061112	hsa-miR-335	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061114	hsa-miR-3671	CLIP-seq
MIRT1061115	hsa-miR-3916	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061117	hsa-miR-433	CLIP-seq
MIRT1061118	hsa-miR-4429	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061123	hsa-miR-4803	CLIP-seq
MIRT1061124	hsa-miR-513c	CLIP-seq
MIRT1061125	hsa-miR-514b-5p	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT1061127	hsa-miR-877	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061093	hsa-let-7a	CLIP-seq
MIRT1061094	hsa-let-7b	CLIP-seq
MIRT1061095	hsa-let-7c	CLIP-seq
MIRT1061096	hsa-let-7d	CLIP-seq
MIRT1061097	hsa-let-7e	CLIP-seq
MIRT1061098	hsa-let-7f	CLIP-seq
MIRT1061099	hsa-let-7g	CLIP-seq
MIRT1061100	hsa-let-7i	CLIP-seq
MIRT1061129	hsa-miR-101	CLIP-seq
MIRT1061130	hsa-miR-1200	CLIP-seq
MIRT1061131	hsa-miR-1206	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT1061133	hsa-miR-149	CLIP-seq
MIRT1061103	hsa-miR-196a	CLIP-seq
MIRT1061104	hsa-miR-196b	CLIP-seq
MIRT1061105	hsa-miR-202	CLIP-seq
MIRT1061134	hsa-miR-3064-5p	CLIP-seq
MIRT1061135	hsa-miR-33a	CLIP-seq
MIRT1061136	hsa-miR-33b	CLIP-seq
MIRT1061113	hsa-miR-361-5p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT1061116	hsa-miR-4255	CLIP-seq
MIRT1061138	hsa-miR-4261	CLIP-seq
MIRT1061139	hsa-miR-4324	CLIP-seq
MIRT1061119	hsa-miR-4458	CLIP-seq
MIRT1061140	hsa-miR-4496	CLIP-seq
MIRT1061120	hsa-miR-4500	CLIP-seq
MIRT1061121	hsa-miR-4536	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061142	hsa-miR-4728-3p	CLIP-seq
MIRT1061122	hsa-miR-4729	CLIP-seq
MIRT1061143	hsa-miR-4789-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT1061145	hsa-miR-4794	CLIP-seq
MIRT1061146	hsa-miR-544b	CLIP-seq
MIRT1061147	hsa-miR-889	CLIP-seq
MIRT1061128	hsa-miR-98	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2550026	hsa-miR-4275	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT2550030	hsa-miR-4662a-3p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2550033	hsa-miR-499-3p	CLIP-seq
MIRT2550034	hsa-miR-499a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT2550038	hsa-miR-599	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq
MIRT1061132	hsa-miR-1256	CLIP-seq
MIRT2550016	hsa-miR-1269	CLIP-seq
MIRT2550017	hsa-miR-1269b	CLIP-seq
MIRT2550018	hsa-miR-145	CLIP-seq
MIRT2550019	hsa-miR-155	CLIP-seq
MIRT2550020	hsa-miR-3117-5p	CLIP-seq
MIRT1061106	hsa-miR-3121-3p	CLIP-seq
MIRT2550021	hsa-miR-3140-3p	CLIP-seq
MIRT2550022	hsa-miR-3160-3p	CLIP-seq
MIRT2550023	hsa-miR-3163	CLIP-seq
MIRT2550024	hsa-miR-3675-3p	CLIP-seq
MIRT2682639	hsa-miR-3676	CLIP-seq
MIRT1061137	hsa-miR-3677-5p	CLIP-seq
MIRT2550025	hsa-miR-376c	CLIP-seq
MIRT2682640	hsa-miR-4282	CLIP-seq
MIRT2550027	hsa-miR-4487	CLIP-seq
MIRT2550028	hsa-miR-4529-3p	CLIP-seq
MIRT2550029	hsa-miR-4639-5p	CLIP-seq
MIRT1061141	hsa-miR-4672	CLIP-seq
MIRT2550031	hsa-miR-4712-5p	CLIP-seq
MIRT2550032	hsa-miR-4766-3p	CLIP-seq
MIRT1061144	hsa-miR-4789-5p	CLIP-seq
MIRT2682641	hsa-miR-513a-3p	CLIP-seq
MIRT2550035	hsa-miR-558	CLIP-seq
MIRT2550036	hsa-miR-568	CLIP-seq
MIRT2682642	hsa-miR-577	CLIP-seq
MIRT2550037	hsa-miR-587	CLIP-seq
MIRT1061126	hsa-miR-607	CLIP-seq
MIRT2550039	hsa-miR-770-5p	CLIP-seq
MIRT2550040	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0003418	Process	Growth plate cartilage chondrocyte differentiation	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005929	Component	Cilium	IBA	21873635
GO:0005929	Component	Cilium	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0030992	Component	Intraciliary transport particle B	IBA	21873635
GO:0030992	Component	Intraciliary transport particle B	ISS
GO:0033687	Process	Osteoblast proliferation	IEA
GO:0035630	Process	Bone mineralization involved in bone maturation	IEA
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0036064	Component	Ciliary basal body	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0061975	Process	Articular cartilage development	IEA
GO:0097500	Process	Receptor localization to non-motile cilium	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097731	Component	9+0 non-motile cilium	IEA
GO:1905515	Process	Non-motile cilium assembly	IEA
GO:2000051	Process	Negative regulation of non-canonical Wnt signaling pathway	IEA

Other IDs

• MIM: 611177
• HGNC: 29262
• e!Ensembl: ENSG00000068885

Protein

• UniProt ID: Q9P2H3
• Protein name: Intraflagellar transport protein 80 homolog (WD repeat-containing protein 56)
• Protein function: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia.
• Tissue specificity: TISSUE SPECIFICITY: Isoform IFT80-L is widely expressed. {ECO:0000269|PubMed:18601909}.
• Sequence:

  MRLKISLLKEPKHQELVSCVGWTTAEELYSCSDDHQIVKWNLLTSETTQIVKLPDDIYPI
  DFHWFPKSLGVKKQTQAESFVLTSSDGKFHLISKLGRVEKSVEAHCGAVLAGRWNYEGTA
  LVTVGEDGQIKIWSKTGMLRSTLAQQGTPVYSVAWGPDSEKVLYTAGKQLIIKPLQPNAK
  VLQWKAHDGIILKVDWNSVNDLILSAGEDCKYKVWDSYGRPLYNSQPHEHPITSVAWAPD
  GELFAVGSFHTLRLCDKTGWSYALEKPNTGSIFNIAWSIDGTQIAGACGNGHVVFAHVVE
  QHWEWKNFQVTLTKRRAMQVRNVLNDAVDLLEFRDRVIKASLNYAHLVVSTSLQCYVFST
  KNWNTPIIFDLKEGTVSLILQAERHFLLVDGSSIYLYSYEGRFISSPKFPGMRTDILNAQ
  TVSLSNDTIAIRDKADEKIIFLFEASTGKPLGDGKFLSHKNEILEIALDQKGLTNDRKIA
  FIDKNRDLCITSVKRFGKEEQIIKLGTMVHTLAWNDTCNILCGLQDTRFIVWYYPNTVYV
  DRDILPKTLYERDASEFSKNPHIVSFVGNQVTIRRADGSLVHISITPYPAILHEYVSSSK
  WEDAVRLCRFVKEQTMWACLAAMAVANRDMTTAEIAYAAIGEIDKVQYINSIKNLPSKES
  KMAHILLFSGNIQEAEIVLLQAGLVYQAIQININLYNWERALELAVKYKTHVDTVLAYRQ
  KFLETFGKQETNKRYLHYAEGLQIDWEKIKAKIEMEITKEREQSSSSQSSKSIGLKP

• Sequence length: 777

Pathways

Reactome:

Intraflagellar transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Asphyxiating thoracic dystrophy	Asphyxiating Thoracic Dystrophy 2	rs137853115, rs137853025, rs1565310938, rs137853028, rs137853029, rs137853030, rs137853031, rs137853032, rs431905499, rs137853033, rs137853034, rs137853035, rs431905500, rs483352907, rs387906980, rs387906982, rs185089786, rs387907060, rs397514637, rs431905507, rs138004478, rs786205645, rs794727944, rs780539887, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs864622358, rs200460601, rs755883373, rs754919042, rs886039815, rs886039812, rs758522600, rs886039795, rs201037487, rs771487311, rs1043384862, rs562139820, rs771003300, rs552436294, rs943680446, rs431905497, rs368631447, rs759086770, rs775836730, rs1456300819, rs1554478948, rs1554770620, rs1554771066, rs555339053, rs896105030, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555051720, rs745870321, rs1555052524, rs901629870, rs1555054771, rs1461272672, rs780855765, rs1555060411, rs1243999036, rs1555060940, rs1555061228, rs747348765, rs1322884865, rs1555062340, rs1555063811, rs537704873, rs1386343205, rs762588952, rs1350329646, rs1555064376, rs1555066796, rs200614421, rs964711006, rs1196317554, rs747857715, rs1214801816, rs371940321, rs1555068270, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1555077194, rs780600124, rs1261505725, rs200710887, rs181011657, rs1555082470, rs1453448143, rs369658526, rs766816050, rs756811136, rs368654019, rs1223907858, rs759549373, rs760214276, rs1565317399, rs1565329461, rs767846762, rs1565359085, rs751891969, rs1565390180, rs1384888093, rs1565394086, rs1565438488, rs561778796, rs373536938, rs767206815, rs371932985, rs372878677, rs1577822861, rs1327583103, rs1862810311	19610081, 17468754
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
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Jeune thoracic dystrophy	Jeune thoracic dystrophy	rs137853025, rs137853028, rs137853030, rs137853031, rs137853032, rs431905500, rs201188361, rs587776909, rs397514637, rs431905507, rs199952377, rs431905521, rs587777352, rs750396637, rs755338872, rs794727595, rs776315442, rs780539887, rs864622358, rs864622111, rs200460601, rs755883373, rs878852996, rs754919042, rs770185023, rs201858128, rs771487311, rs773858865, rs1043384862, rs562139820, rs771003300, rs754049402, rs552436294, rs943680446, rs746068882, rs368631447, rs1202784860, rs1236962991, rs1453462442, rs1553316926, rs776631281, rs764906529, rs1553753582, rs372576954, rs1553905326, rs748656635, rs377160857, rs1215108056, rs772599282, rs1191056931, rs745603321, rs1553815019, rs1553836165, rs761707323, rs1554770453, rs1554771175, rs555811074, rs755305630, rs771511132, rs762873763, rs764769351, rs369614706, rs371011047, rs748906528, rs1555042801, rs1555043520, rs373335226, rs1555049536, rs1555051720, rs745870321, rs1555052511, rs1555052524, rs1555053115, rs901629870, rs762666243, rs1555056464, rs1380132788, rs1555057838, rs753662982, rs747348765, rs1555063811, rs537704873, rs1350329646, rs758155107, rs1196317554, rs747857715, rs969015057, rs1555068270, rs1555068636, rs1555070451, rs1555071484, rs1555071503, rs776407305, rs373924400, rs1218198013, rs780600124, rs1261505725, rs200710887, rs1555081345, rs181011657, rs759649136, rs1555098222, rs1453448143, rs766816050, rs368654019, rs1555052497, rs1223907858, rs759549373, rs1555096711, rs200335504, rs1555038664, rs747165335, rs1565311145, rs1565317399, rs1260978141, rs1565329461, rs767846762, rs376892534, rs1566883760, rs1309577378, rs1565423740, rs1565371538, rs1565359085, rs1159774355, rs1291197898, rs751891969, rs1565390180, rs1558104145, rs1401798992, rs561778796, rs1266078341, rs1565368793, rs373536938, rs765454943, rs1160036887, rs767206815, rs372878677	17468754
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Nephronophthisis	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
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Polydactyly	Polydactyly, Polydactyly preaxial type 1	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987	17468754
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Renal insufficiency	Renal Insufficiency	rs1596536873
Short rib-polydactyly syndrome	Short rib-polydactyly syndrome, Verma-Naumoff type, Short rib-polydactyly syndrome, Beemer type, Short rib-polydactyly syndrome, Beemer-Langer type	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815	19648123, 22791528, 30767363
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Jeune Syndrome	Jeune syndrome			GenCC
Short Rib-Polydactyly Syndrome	short rib-polydactyly syndrome, Verma-Naumoff type			GenCC
Diabetes	Diabetes			GWAS
Stress Disorder	Stress Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Glioma	Associate	36377597
Jeune syndrome	Associate	30453504, 31935347
Ovarian Neoplasms	Associate	31746426
Short rib polydactyly syndrome Verma Naumoff type	Associate	24183449, 30453504
Squamous Cell Carcinoma of Head and Neck	Associate	35403343
Stomach Neoplasms	Associate	30453504