DCDC2 (doublecortin domain containing 2)

Gene

• Entrez ID: 51473
• Gene name: Doublecortin domain containing 2
• Gene symbol: DCDC2
• Synonyms (NCBI Gene): DCDC2A, DFNB66, NPHP19, NSC, RU2, RU2S
• Disease Acronyms (UniProt): DFNB66, NPHP19, NSC
• Chromosome: 6
• Chromosome location: 6p22.3
• Summary: This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41271773	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141060456	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs142088541	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144695853	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145154884	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs730880299	T>A	Pathogenic	Stop gained, coding sequence variant
rs760040426	T>C	Pathogenic	Splice acceptor variant
rs765613994	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs774115675	->C	Pathogenic	Frameshift variant, coding sequence variant
rs775868003	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs794729665	T>G	Pathogenic	Missense variant, coding sequence variant
rs904520404	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs904944428	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant
rs909339162	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1050411259	A>T	Pathogenic	Stop gained, coding sequence variant
rs1554121105	T>C	Pathogenic	Splice acceptor variant
rs1554144869	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1581640646	->A	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT043780	hsa-miR-328-3p	CLASH	23622248
MIRT538182	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT538181	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT538180	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT538179	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT538178	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT538177	hsa-miR-581	PAR-CLIP	22012620
MIRT538176	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT538175	hsa-miR-592	PAR-CLIP	22012620
MIRT538174	hsa-miR-5692a	PAR-CLIP	22012620
MIRT538173	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT538172	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT538171	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT538170	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT538169	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT538168	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT538182	hsa-miR-34c-3p	PAR-CLIP	22012620
MIRT538181	hsa-miR-362-5p	PAR-CLIP	22012620
MIRT538180	hsa-miR-500b-5p	PAR-CLIP	22012620
MIRT538179	hsa-miR-501-5p	PAR-CLIP	22012620
MIRT538178	hsa-miR-1288-5p	PAR-CLIP	22012620
MIRT538177	hsa-miR-581	PAR-CLIP	22012620
MIRT538176	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT538175	hsa-miR-592	PAR-CLIP	22012620
MIRT538174	hsa-miR-5692a	PAR-CLIP	22012620
MIRT538173	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT538172	hsa-miR-371b-5p	PAR-CLIP	22012620
MIRT538171	hsa-miR-373-5p	PAR-CLIP	22012620
MIRT538170	hsa-miR-616-5p	PAR-CLIP	22012620
MIRT538169	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT538168	hsa-miR-372-5p	PAR-CLIP	22012620
MIRT925868	hsa-miR-1206	CLIP-seq
MIRT925869	hsa-miR-125a-3p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925871	hsa-miR-1298	CLIP-seq
MIRT925872	hsa-miR-137	CLIP-seq
MIRT925873	hsa-miR-155	CLIP-seq
MIRT925874	hsa-miR-1827	CLIP-seq
MIRT925875	hsa-miR-186	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925877	hsa-miR-3143	CLIP-seq
MIRT925878	hsa-miR-3189-5p	CLIP-seq
MIRT925879	hsa-miR-3194-3p	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT925881	hsa-miR-3607-3p	CLIP-seq
MIRT925882	hsa-miR-3612	CLIP-seq
MIRT925883	hsa-miR-3622a-3p	CLIP-seq
MIRT925884	hsa-miR-3622b-3p	CLIP-seq
MIRT925885	hsa-miR-365	CLIP-seq
MIRT925886	hsa-miR-3653	CLIP-seq
MIRT925887	hsa-miR-3658	CLIP-seq
MIRT925888	hsa-miR-3686	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT925890	hsa-miR-3934	CLIP-seq
MIRT925891	hsa-miR-411	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT925893	hsa-miR-4433	CLIP-seq
MIRT925894	hsa-miR-4459	CLIP-seq
MIRT925895	hsa-miR-4484	CLIP-seq
MIRT925896	hsa-miR-4695-5p	CLIP-seq
MIRT925897	hsa-miR-4719	CLIP-seq
MIRT925898	hsa-miR-4758-3p	CLIP-seq
MIRT925899	hsa-miR-4760-5p	CLIP-seq
MIRT925900	hsa-miR-4767	CLIP-seq
MIRT925901	hsa-miR-4768-3p	CLIP-seq
MIRT925902	hsa-miR-544b	CLIP-seq
MIRT925903	hsa-miR-548a-3p	CLIP-seq
MIRT925904	hsa-miR-548e	CLIP-seq
MIRT925905	hsa-miR-548f	CLIP-seq
MIRT925906	hsa-miR-590-3p	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT925908	hsa-miR-650	CLIP-seq
MIRT925909	hsa-miR-665	CLIP-seq
MIRT925910	hsa-miR-764	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925911	hsa-miR-128	CLIP-seq
MIRT925912	hsa-miR-1290	CLIP-seq
MIRT925913	hsa-miR-1297	CLIP-seq
MIRT925914	hsa-miR-130a	CLIP-seq
MIRT925915	hsa-miR-130b	CLIP-seq
MIRT925916	hsa-miR-145	CLIP-seq
MIRT925917	hsa-miR-148a	CLIP-seq
MIRT925918	hsa-miR-148b	CLIP-seq
MIRT925919	hsa-miR-152	CLIP-seq
MIRT925873	hsa-miR-155	CLIP-seq
MIRT925920	hsa-miR-1825	CLIP-seq
MIRT925874	hsa-miR-1827	CLIP-seq
MIRT925921	hsa-miR-199a-5p	CLIP-seq
MIRT925922	hsa-miR-199b-5p	CLIP-seq
MIRT925923	hsa-miR-19a	CLIP-seq
MIRT925924	hsa-miR-19b	CLIP-seq
MIRT925925	hsa-miR-203	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925926	hsa-miR-2681	CLIP-seq
MIRT925927	hsa-miR-26a	CLIP-seq
MIRT925928	hsa-miR-26b	CLIP-seq
MIRT925929	hsa-miR-301a	CLIP-seq
MIRT925930	hsa-miR-301b	CLIP-seq
MIRT925931	hsa-miR-3074-3p	CLIP-seq
MIRT925932	hsa-miR-3146	CLIP-seq
MIRT925933	hsa-miR-3148	CLIP-seq
MIRT925934	hsa-miR-3165	CLIP-seq
MIRT925935	hsa-miR-3167	CLIP-seq
MIRT925878	hsa-miR-3189-5p	CLIP-seq
MIRT925879	hsa-miR-3194-3p	CLIP-seq
MIRT925881	hsa-miR-3607-3p	CLIP-seq
MIRT925882	hsa-miR-3612	CLIP-seq
MIRT925936	hsa-miR-3616-5p	CLIP-seq
MIRT925937	hsa-miR-3646	CLIP-seq
MIRT925938	hsa-miR-3647-5p	CLIP-seq
MIRT925885	hsa-miR-365	CLIP-seq
MIRT925939	hsa-miR-3666	CLIP-seq
MIRT925940	hsa-miR-3674	CLIP-seq
MIRT925888	hsa-miR-3686	CLIP-seq
MIRT925941	hsa-miR-3688-5p	CLIP-seq
MIRT925942	hsa-miR-3913-3p	CLIP-seq
MIRT925943	hsa-miR-3921	CLIP-seq
MIRT925891	hsa-miR-411	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT925944	hsa-miR-4279	CLIP-seq
MIRT925945	hsa-miR-4295	CLIP-seq
MIRT925894	hsa-miR-4459	CLIP-seq
MIRT925946	hsa-miR-4465	CLIP-seq
MIRT925947	hsa-miR-4496	CLIP-seq
MIRT925948	hsa-miR-454	CLIP-seq
MIRT925949	hsa-miR-4637	CLIP-seq
MIRT925950	hsa-miR-4653-5p	CLIP-seq
MIRT925951	hsa-miR-4668-3p	CLIP-seq
MIRT925952	hsa-miR-4686	CLIP-seq
MIRT925896	hsa-miR-4695-5p	CLIP-seq
MIRT925953	hsa-miR-4703-3p	CLIP-seq
MIRT925954	hsa-miR-4711-3p	CLIP-seq
MIRT925898	hsa-miR-4758-3p	CLIP-seq
MIRT925899	hsa-miR-4760-5p	CLIP-seq
MIRT925955	hsa-miR-4795-5p	CLIP-seq
MIRT925956	hsa-miR-489	CLIP-seq
MIRT925957	hsa-miR-490-3p	CLIP-seq
MIRT925958	hsa-miR-495	CLIP-seq
MIRT925959	hsa-miR-498	CLIP-seq
MIRT925960	hsa-miR-511	CLIP-seq
MIRT925961	hsa-miR-520f	CLIP-seq
MIRT925903	hsa-miR-548a-3p	CLIP-seq
MIRT925904	hsa-miR-548e	CLIP-seq
MIRT925905	hsa-miR-548f	CLIP-seq
MIRT925962	hsa-miR-573	CLIP-seq
MIRT925906	hsa-miR-590-3p	CLIP-seq
MIRT925963	hsa-miR-619	CLIP-seq
MIRT925908	hsa-miR-650	CLIP-seq
MIRT925909	hsa-miR-665	CLIP-seq
MIRT925964	hsa-miR-7	CLIP-seq
MIRT925965	hsa-miR-876-5p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT1974341	hsa-miR-410	CLIP-seq
MIRT925869	hsa-miR-125a-3p	CLIP-seq
MIRT925870	hsa-miR-1273e	CLIP-seq
MIRT2209768	hsa-miR-196a	CLIP-seq
MIRT2209769	hsa-miR-196b	CLIP-seq
MIRT2209770	hsa-miR-24	CLIP-seq
MIRT925876	hsa-miR-2467-3p	CLIP-seq
MIRT925931	hsa-miR-3074-3p	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT2209771	hsa-miR-3649	CLIP-seq
MIRT2209772	hsa-miR-374a	CLIP-seq
MIRT2209773	hsa-miR-374b	CLIP-seq
MIRT2209774	hsa-miR-382	CLIP-seq
MIRT2209775	hsa-miR-3927	CLIP-seq
MIRT925890	hsa-miR-3934	CLIP-seq
MIRT925892	hsa-miR-4257	CLIP-seq
MIRT2209776	hsa-miR-4291	CLIP-seq
MIRT2209777	hsa-miR-4528	CLIP-seq
MIRT2209778	hsa-miR-4670-3p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2209780	hsa-miR-561	CLIP-seq
MIRT925907	hsa-miR-636	CLIP-seq
MIRT925910	hsa-miR-764	CLIP-seq
MIRT2209781	hsa-miR-873	CLIP-seq
MIRT2448071	hsa-miR-1283	CLIP-seq
MIRT2448072	hsa-miR-3120-5p	CLIP-seq
MIRT2448073	hsa-miR-4684-5p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2448074	hsa-miR-593	CLIP-seq
MIRT2513557	hsa-miR-3125	CLIP-seq
MIRT925880	hsa-miR-335	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT2513558	hsa-miR-3916	CLIP-seq
MIRT2513559	hsa-miR-4311	CLIP-seq
MIRT2513560	hsa-miR-451b	CLIP-seq
MIRT2513561	hsa-miR-4696	CLIP-seq
MIRT2513562	hsa-miR-877	CLIP-seq
MIRT2448071	hsa-miR-1283	CLIP-seq
MIRT2448072	hsa-miR-3120-5p	CLIP-seq
MIRT925889	hsa-miR-371-5p	CLIP-seq
MIRT2679062	hsa-miR-4662a-5p	CLIP-seq
MIRT2448073	hsa-miR-4684-5p	CLIP-seq
MIRT2209779	hsa-miR-494	CLIP-seq
MIRT2448074	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EHF	Repression	22733135

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA	21873635
GO:0001764	Process	Neuron migration	ISS
GO:0001764	Process	Neuron migration	NAS	16278297
GO:0005515	Function	Protein binding	IPI	21698230, 25416956, 25557784, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	21698230, 27319779
GO:0005815	Component	Microtubule organizing center	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005929	Component	Cilium	IDA	21698230, 25601850, 27319779
GO:0005930	Component	Axoneme	IBA	21873635
GO:0005930	Component	Axoneme	IDA	25557784, 27319779
GO:0006968	Process	Cellular defense response	TAS	10601354
GO:0007605	Process	Sensory perception of sound	IMP	25601850
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0019894	Function	Kinesin binding	IEA
GO:0030111	Process	Regulation of Wnt signaling pathway	IMP	25557784
GO:0030864	Component	Cortical actin cytoskeleton	IBA	21873635
GO:0034451	Component	Centriolar satellite	IDA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IMP	21698230
GO:0048813	Process	Dendrite morphogenesis	IBA	21873635
GO:0060091	Component	Kinocilium	IBA	21873635
GO:0060091	Component	Kinocilium	ISS
GO:0060271	Process	Cilium assembly	IBA	21873635
GO:0060271	Process	Cilium assembly	IMP	27319779
GO:0072686	Component	Mitotic spindle	IDA
GO:1902017	Process	Regulation of cilium assembly	IBA	21873635
GO:1902017	Process	Regulation of cilium assembly	IMP	25601850

Other IDs

• MIM: 605755
• HGNC: 18141
• e!Ensembl: ENSG00000146038

Protein

• UniProt ID: Q9UHG0
• Protein name: Doublecortin domain-containing protein 2 (Protein RU2S)
• Protein function: Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and cil
• PDB: 2DNF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03607	DCX	35 → 94	Doublecortin	Family
  PF03607	DCX	157 → 215	Doublecortin	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus (PubMed:10601354, PubMed:16278297). Expressed in liver by cholangiocy
• Sequence:

  MSGSSARSSHLSQPVVKSVLVYRNGDPFYAGRRVVIHEKKVSSFEVFLKEVTGGVQAPFG
  AVRNIYTPRTGHRIRKLDQIQSGGNYVAGGQEAFKKLNYLDIGEIKKRPMEVVNTEVKPV
  IHSRINVSARFRKPLQEPCTIFLIANGDLINPASRLLIPRKTLNQWDHVLQMVTEKITLR
  SGAVHRLYTLEGKLVESGAELENGQFYVAVGRDKFKKLPYSELLFDKSTMRRPFGQKASS
  LPPIVGSRKSKGSGNDRHSKSTVGSSDNSSPQPLKRKGKKEDVNSEKLTKLKQNVKLKNS
  QETIPNSDEGIFKAGAERSETRGAAEVQEDEDTQVEVPVDQRPAEIVDEEEDGEKANKDA
  EQKEDFSGMNGDLEEEGGREATDAPEQVEEILDHSEQQARPARVNGGTDEENGEELQQVN
  NELQLVLDKERKSQGAGSGQDEADVDPQRPPRPEVKITSPEENENNQQNKDYAAVA

• Sequence length: 476

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 66	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	25601850, 27469900, 25557784
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Isolated sclerosing cholangitis	Isolated neonatal sclerosing cholangitis	rs730880299, rs757704417, rs1042640142, rs1050411259, rs904944428, rs1554144869
Kidney disease	Chronic kidney disease stage 5	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Nephronophthisis	Nephronophthisis, NEPHRONOPHTHISIS 19	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	22558177, 25557784, 27469900
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	25130614, 25601850, 22558177
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21507613

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Mental depression	Major Depressive Disorder		29662059	ClinVar
Senior-Boichis Syndrome	Senior-Boichis syndrome			GenCC
Isolated Sclerosing Cholangitis	isolated neonatal sclerosing cholangitis			GenCC
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Apraxias	Associate	39202429
Articulation Disorders	Associate	39202429
Attention Deficit Disorder with Hyperactivity	Associate	19362708
Auditory Perceptual Disorders	Associate	19362708
Breast Neoplasms	Associate	29028086
Carcinoma Hepatocellular	Inhibit	24034596
Ciliopathies	Associate	35570614
Cognition Disorders	Associate	24926531
Cumulative Trauma Disorders	Associate	26019324
Death	Associate	27469900
Disruptive Impulse Control and Conduct Disorders	Associate	19362708
Dyslexia	Associate	15717286, 16385449, 19018237, 20068590, 20846247, 21042874, 21046216, 21165691, 21438145, 21881542, 23176554, 23746548, 24022301, 24926531, 25339756, 25778907, 25877001, 26019324, 27100778, 27484312, 28074887, 28182973, 30379906, 31411106, 32560373, 34228165, 39202429, 40424442
Dyslexia Acquired	Associate	16278297, 19362708, 19588467, 21042874, 22669497, 23746548, 24509779, 26660103, 27100778, 32560373
Frontotemporal Dementia	Associate	27484312
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	35570614
Immunoglobulin G4 Related Disease	Associate	19588467, 21457949
Infant Newborn Diseases	Associate	35570614
Kidney Diseases	Associate	35570614
Kidney Neoplasms	Associate	10601354
Language Disorders	Associate	23746548, 24509779, 26660103, 39202429
Learning Disabilities	Associate	24926531
Leukoencephalopathies	Associate	24926531, 34228165
Motion Sickness	Associate	28742079
Neoplasm Metastasis	Associate	29028086
Neoplasms	Associate	24034596, 29028086
Pyruvate Dehydrogenase E3 Binding Protein Deficiency	Associate	32203204
Speech Sound Disorder	Associate	25778907, 31411106
Vision Disorders	Associate	34228165