DYNC2LI1 (dynein cytoplasmic 2 light intermediate chain 1)

Gene

• Entrez ID: 51626
• Gene name: Dynein cytoplasmic 2 light intermediate chain 1
• Gene symbol: DYNC2LI1
• Synonyms (NCBI Gene): CGI-60, D2LIC, LIC3
• Chromosome: 2
• Chromosome location: 2p21
• Summary: This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146698690	C>G,T	Likely-benign, likely-pathogenic	Missense variant, coding sequence variant
rs201151187	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, splice acceptor variant
rs201948500	C>G	Pathogenic	Coding sequence variant, missense variant
rs374356079	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs745930390	C>G,T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs752971070	T>-	Pathogenic	Genic downstream transcript variant, intron variant
rs769975073	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs770155116	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255656	A>G	Pathogenic	Genic downstream transcript variant, intron variant
rs886037860	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1553359373	->A	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029378	hsa-miR-26b-5p	Microarray	19088304
MIRT707579	hsa-miR-4760-3p	HITS-CLIP	21572407
MIRT159513	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707578	hsa-miR-128-3p	HITS-CLIP	21572407
MIRT707577	hsa-miR-216a-3p	HITS-CLIP	21572407
MIRT707576	hsa-miR-3681-3p	HITS-CLIP	21572407
MIRT159531	hsa-miR-1279	HITS-CLIP	21572407
MIRT707575	hsa-miR-412-3p	HITS-CLIP	21572407
MIRT707574	hsa-miR-6754-3p	HITS-CLIP	21572407
MIRT707573	hsa-miR-6837-3p	HITS-CLIP	21572407
MIRT159521	hsa-miR-513a-5p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	21572407
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	21572407
MIRT707572	hsa-miR-130a-5p	HITS-CLIP	21572407
MIRT707571	hsa-miR-23a-3p	HITS-CLIP	21572407
MIRT707570	hsa-miR-23b-3p	HITS-CLIP	21572407
MIRT707569	hsa-miR-23c	HITS-CLIP	21572407
MIRT159545	hsa-miR-3064-3p	HITS-CLIP	21572407
MIRT707568	hsa-miR-4715-3p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT707579	hsa-miR-4760-3p	HITS-CLIP	21572407
MIRT159513	hsa-miR-144-3p	HITS-CLIP	21572407
MIRT707578	hsa-miR-128-3p	HITS-CLIP	21572407
MIRT707577	hsa-miR-216a-3p	HITS-CLIP	21572407
MIRT707576	hsa-miR-3681-3p	HITS-CLIP	21572407
MIRT159531	hsa-miR-1279	HITS-CLIP	21572407
MIRT707575	hsa-miR-412-3p	HITS-CLIP	21572407
MIRT707574	hsa-miR-6754-3p	HITS-CLIP	21572407
MIRT707573	hsa-miR-6837-3p	HITS-CLIP	21572407
MIRT159521	hsa-miR-513a-5p	HITS-CLIP	21572407
MIRT159507	hsa-miR-27a-3p	HITS-CLIP	21572407
MIRT159512	hsa-miR-27b-3p	HITS-CLIP	21572407
MIRT707572	hsa-miR-130a-5p	HITS-CLIP	21572407
MIRT707571	hsa-miR-23a-3p	HITS-CLIP	21572407
MIRT707570	hsa-miR-23b-3p	HITS-CLIP	21572407
MIRT707569	hsa-miR-23c	HITS-CLIP	21572407
MIRT159545	hsa-miR-3064-3p	HITS-CLIP	21572407
MIRT707568	hsa-miR-4715-3p	HITS-CLIP	21572407
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949107	hsa-miR-4270	CLIP-seq
MIRT949108	hsa-miR-4441	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949111	hsa-miR-4708-5p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT949115	hsa-miR-3119	CLIP-seq
MIRT949116	hsa-miR-579	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949117	hsa-miR-2355-3p	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949119	hsa-miR-4267	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT949120	hsa-miR-676	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT949102	hsa-miR-23a	CLIP-seq
MIRT949103	hsa-miR-23b	CLIP-seq
MIRT949106	hsa-miR-412	CLIP-seq
MIRT949109	hsa-miR-4659a-3p	CLIP-seq
MIRT949110	hsa-miR-4659b-3p	CLIP-seq
MIRT949112	hsa-miR-4789-5p	CLIP-seq
MIRT949113	hsa-miR-495	CLIP-seq
MIRT949114	hsa-miR-582-5p	CLIP-seq
MIRT2387179	hsa-miR-2052	CLIP-seq
MIRT2387180	hsa-miR-4778-3p	CLIP-seq
MIRT2387181	hsa-miR-502-5p	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT2387179	hsa-miR-2052	CLIP-seq
MIRT2387180	hsa-miR-4778-3p	CLIP-seq
MIRT2387181	hsa-miR-502-5p	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq
MIRT2520285	hsa-miR-3148	CLIP-seq
MIRT949118	hsa-miR-3149	CLIP-seq
MIRT2520286	hsa-miR-3978	CLIP-seq
MIRT949100	hsa-miR-128	CLIP-seq
MIRT949101	hsa-miR-144	CLIP-seq
MIRT949104	hsa-miR-27a	CLIP-seq
MIRT949105	hsa-miR-27b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003774	Function	Motor activity	IEA
GO:0005515	Function	Protein binding	IPI	21252941, 29742051
GO:0005737	Component	Cytoplasm	IDA	26130459
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	26130459
GO:0005868	Component	Cytoplasmic dynein complex	IBA	21873635
GO:0005868	Component	Cytoplasmic dynein complex	IDA	21723285, 31451806
GO:0005868	Component	Cytoplasmic dynein complex	ISS	12802074
GO:0005881	Component	Cytoplasmic microtubule	ISS
GO:0005929	Component	Cilium	ISS
GO:0005929	Component	Cilium	TAS
GO:0005930	Component	Axoneme	IBA	21873635
GO:0005930	Component	Axoneme	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0030990	Component	Intraciliary transport particle	ISS
GO:0031514	Component	Motile cilium	ISS
GO:0035721	Process	Intraciliary retrograde transport	IBA	21873635
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IBA	21873635
GO:0035735	Process	Intraciliary transport involved in cilium assembly	IMP	26077881
GO:0035735	Process	Intraciliary transport involved in cilium assembly	TAS
GO:0035869	Component	Ciliary transition zone	IDA	26130459
GO:0036064	Component	Ciliary basal body	IBA	21873635
GO:0036064	Component	Ciliary basal body	IDA	26130459
GO:0036064	Component	Ciliary basal body	ISS	12802074
GO:0045177	Component	Apical part of cell	ISS
GO:0045504	Function	Dynein heavy chain binding	IBA	21873635
GO:0045504	Function	Dynein heavy chain binding	IDA	29742051
GO:0097542	Component	Ciliary tip	TAS
GO:1902017	Process	Regulation of cilium assembly	IMP	26077881

Other IDs

• MIM: 617083
• HGNC: 24595
• e!Ensembl: ENSG00000138036

Protein

• UniProt ID: Q8TCX1
• Protein name: Cytoplasmic dynein 2 light intermediate chain 1 (Dynein 2 light intermediate chain)
• Protein function: Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intrafl
• PDB: 6RLB, 6SC2, 8RGH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05783	DLIC	2 → 179	Dynein light intermediate chain (DLIC)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in bone, brain, kidney, and cartilage (PubMed:26077881, PubMed:26130459). Lower expression in heart, liver, lung, placenta and thymus (PubMed:26077881). {ECO:0000269|PubMed:26077881, ECO:0000269|PubMed:26130459}.
• Sequence:

  MPSETLWEIAKAEVEKRGINGSEGDGAEIAEKFVFFIGSKNGGKTTIILRCLDRDEPPKP
  TLALEYTYGRRAKGHNTPKDIAHFWELGGGTSLLDLISIPITGDTLRTFSLVLVLDLSKP
  NDLWPTMENLLQATKSHVDKVIMKLGKTNAKAVSEMRQKIWNNMPKDHPDHELIDPFPVP
  LVIIGSKYDVFQDFESEKRKVICKTLRFVAHYYGASLMFTSKSEALLLKIRGVINQLAFG
  IDKSKSICVDQNKPLFITAGLDSFGQIGSPPVPENDIGKLHAHSPMELWKKVYEKLFPPK
  SINTLKDIKDPARDPQYAENEVDEMRIQKDLELEQYKRSSSKSWKQIELDS

• Sequence length: 351

Pathways

KEGG:

Motor proteins
Vasopressin-regulated water reabsorption
Salmonella infection

Reactome:

Intraflagellar transport

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Asphyxiating thoracic dystrophy	Saldino-Noonan Syndrome, Asphyxiating Thoracic Dystrophy 1	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
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Ellis-van creveld syndrome	Ellis Van Creveld syndrome, Ellis-Van Creveld Syndrome	rs1265421045, rs137852924, rs137852925, rs137852926, rs137852927, rs794726665, rs121908424, rs121908425, rs587776619, rs121908426, rs794726666, rs1302074641, rs146538906, rs751356206, rs886037764, rs886037763, rs548681312, rs200300612, rs150814290, rs146475474, rs965707319, rs767913372, rs1553815019, rs376133710, rs769864196, rs761707323, rs748523193, rs755381180, rs765269619, rs1553891936, rs759106605, rs1017946059, rs1553876034, rs1553812417, rs1424976594, rs1553865346, rs1553876870, rs753581033, rs760066386, rs1553833239, rs767072839, rs777505711, rs1553849894, rs1553855074, rs1553855151, rs1485152854, rs1553871764, rs1553871866, rs527255616, rs1553873138, rs760607210, rs1169539647, rs770918273, rs762947212, rs1553837446, rs1553811863, rs1307502841, rs1553851870, rs781096099, rs1553818428, rs1447633595, rs749251178, rs769799880, rs992326794, rs1431987950, rs1553836169, rs772840335, rs1553867117, rs1553873969, rs909612975, rs1262933856, rs755789146, rs1553889992, rs773019082, rs1553892090, rs1305301849, rs1553850677, rs1553895755, rs778793911, rs1553851462, rs760382778, rs1007534611, rs73198165, rs1553855127, rs1490912913, rs1430962566, rs1553857801, rs1159758018, rs1553840713, rs763363403, rs1553857995, rs1294715119, rs1553871792, rs1236566474, rs1553852469, rs1214848359, rs1420414097, rs1221185345, rs1300178432, rs1477102573, rs1553876813, rs764397417, rs1553857828, rs1553891368, rs1363547577, rs1553867138, rs779915989, rs1553886849, rs753014919, rs779275317, rs1553894457, rs1553895776, rs1437174284, rs777852863, rs762795511, rs1577638781, rs1722451930, rs758841632, rs767400887	26130459
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	26077881
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia	Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
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
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
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
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Polydactyly	Polydactyly	rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474, rs368652620, rs1562587032, rs760694987
Renal insufficiency	Renal Insufficiency	rs1596536873
Short rib-polydactyly syndrome	Short Rib-Polydactyly Syndrome	rs387907085, rs431905505, rs886037869, rs886037870, rs886044119, rs765513105, rs769724508, rs1555369050, rs1553324519, rs200335504, rs751222088, rs576969206, rs1037828930, rs1360128571, rs547679833, rs868310475, rs1050086118, rs1558342399, rs767206815
Short-rib thoracic dysplasia with or without polydactyly	SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY	rs137852924, rs794726665, rs121908425, rs387906890, rs483352906, rs199689137, rs431905508, rs587777064, rs587777065, rs587777066, rs149614625, rs587777078, rs587777079, rs587777081, rs587777082, rs587777084, rs587777085, rs587777086, rs587777091, rs587777092, rs587777093, rs587777094, rs587777095, rs431905519, rs587777097, rs587777098, rs367600930, rs786205645, rs794727032, rs794727285, rs139021548, rs199947197, rs797045119, rs762081862, rs201948500, rs769975073, rs374356079, rs879255656, rs879255655, rs745930390, rs886037860, rs748090019, rs886037869, rs886037870, rs886039815, rs771487311, rs1056574154, rs771373235, rs1060505043, rs746068882, rs1555531363, rs762771340, rs765513105, rs1554460624, rs770256450, rs757499322, rs1554098663, rs79746977, rs1553516687, rs759648976, rs769651861, rs372499275, rs750338419, rs773496891, rs752878896, rs775849720, rs1362848762, rs1554053289, rs758677637, rs985064686, rs1554075284, rs769864196, rs748523193, rs755381180, rs1456300819, rs555811074, rs1261505725, rs548706733, rs371575563, rs200859699, rs770155116, rs1553359373, rs752971070, rs1554075506, rs1157065841, rs763975565, rs766663693, rs745949846, rs759125480, rs753802842, rs202024173, rs746591648, rs759150616, rs1860309810	26077881, 26130459
Situs inversus	Situs inversus totalis	rs528302390, rs1596264554
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Hamartoma	Hamartoma			ClinVar
Jeune Syndrome	Jeune syndrome			GenCC
Ellis-Van Creveld Syndrome	Ellis-van Creveld syndrome			GenCC
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	short-rib thoracic dysplasia 15 with polydactyly			GenCC
Cholelithiasis	Cholelithiasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Ciliopathies	Associate	33030252
Infertility	Associate	28643089
Short Rib Polydactyly Syndrome	Associate	26077881, 33030252
Short rib polydactyly syndrome Beemer type	Associate	26077881
Transposition of Great Vessels	Associate	32078439