TRIP13 (thyroid hormone receptor interactor 13)

Gene

• Entrez ID: 9319
• Gene name: Thyroid hormone receptor interactor 13
• Gene symbol: TRIP13
• Synonyms (NCBI Gene): 16E1BP, MVA3, OOMD9, OZEMA9
• Disease Acronyms (UniProt): MVA3, OZEMA9
• Chromosome: 5
• Chromosome location: 5p15.33
• Summary: This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs376882637	C>A,G,T	Pathogenic	Stop gained, missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1131692330	G>C	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001491	hsa-miR-155-5p	pSILAC	18668040
MIRT016349	hsa-miR-193b-3p	Microarray	20304954
MIRT001491	hsa-miR-155-5p	Proteomics	18668040
MIRT001491	hsa-miR-155-5p	Reporter assay;Other	20584899
MIRT024619	hsa-miR-215-5p	Microarray	19074876
MIRT026520	hsa-miR-192-5p	Microarray	19074876
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT167439	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448175	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT448174	hsa-miR-4635	PAR-CLIP	22100165
MIRT167432	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT001491	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT001491	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT712036	hsa-miR-4318	HITS-CLIP	19536157
MIRT712035	hsa-miR-7114-5p	HITS-CLIP	19536157
MIRT712034	hsa-miR-4252	HITS-CLIP	19536157
MIRT712033	hsa-miR-711	HITS-CLIP	19536157
MIRT712032	hsa-miR-3138	HITS-CLIP	19536157
MIRT712031	hsa-miR-4800-5p	HITS-CLIP	19536157
MIRT167439	hsa-miR-3121-3p	PAR-CLIP	22100165
MIRT448175	hsa-miR-885-5p	PAR-CLIP	22100165
MIRT448174	hsa-miR-4635	PAR-CLIP	22100165
MIRT167432	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT756187	hsa-miR-139-3p	Luciferase reporter assay, Western blotting, qRT-PCR	38067275
MIRT756327	hsa-miR-30c-1-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC)	37627217
MIRT756328	hsa-miR-30c-2-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC)	37627217
MIRT1456581	hsa-miR-190	CLIP-seq
MIRT1456582	hsa-miR-190b	CLIP-seq
MIRT1456583	hsa-miR-2115	CLIP-seq
MIRT1456584	hsa-miR-302f	CLIP-seq
MIRT1456585	hsa-miR-3176	CLIP-seq
MIRT1456586	hsa-miR-3647-3p	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456591	hsa-miR-3922-3p	CLIP-seq
MIRT1456592	hsa-miR-3934	CLIP-seq
MIRT1456593	hsa-miR-4491	CLIP-seq
MIRT1456594	hsa-miR-4657	CLIP-seq
MIRT1456595	hsa-miR-4668-5p	CLIP-seq
MIRT1456596	hsa-miR-4728-3p	CLIP-seq
MIRT1456597	hsa-miR-5095	CLIP-seq
MIRT1456598	hsa-miR-516a-3p	CLIP-seq
MIRT1456599	hsa-miR-552	CLIP-seq
MIRT1456600	hsa-miR-758	CLIP-seq
MIRT1456601	hsa-miR-137	CLIP-seq
MIRT1456602	hsa-miR-147	CLIP-seq
MIRT1456603	hsa-miR-1537	CLIP-seq
MIRT1456604	hsa-miR-1909	CLIP-seq
MIRT1456605	hsa-miR-192	CLIP-seq
MIRT1456606	hsa-miR-215	CLIP-seq
MIRT1456607	hsa-miR-25	CLIP-seq
MIRT1456608	hsa-miR-298	CLIP-seq
MIRT1456609	hsa-miR-3119	CLIP-seq
MIRT1456610	hsa-miR-3154	CLIP-seq
MIRT1456611	hsa-miR-3192	CLIP-seq
MIRT1456612	hsa-miR-32	CLIP-seq
MIRT1456613	hsa-miR-363	CLIP-seq
MIRT1456614	hsa-miR-3668	CLIP-seq
MIRT1456615	hsa-miR-367	CLIP-seq
MIRT1456616	hsa-miR-3678-3p	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456617	hsa-miR-3908	CLIP-seq
MIRT1456618	hsa-miR-3911	CLIP-seq
MIRT1456619	hsa-miR-3938	CLIP-seq
MIRT1456620	hsa-miR-4292	CLIP-seq
MIRT1456621	hsa-miR-4308	CLIP-seq
MIRT1456622	hsa-miR-4311	CLIP-seq
MIRT1456623	hsa-miR-4655-5p	CLIP-seq
MIRT1456624	hsa-miR-4786-5p	CLIP-seq
MIRT1456625	hsa-miR-494	CLIP-seq
MIRT1456626	hsa-miR-624	CLIP-seq
MIRT1456627	hsa-miR-644	CLIP-seq
MIRT1456628	hsa-miR-659	CLIP-seq
MIRT1456629	hsa-miR-670	CLIP-seq
MIRT1456630	hsa-miR-92a	CLIP-seq
MIRT1456631	hsa-miR-92b	CLIP-seq
MIRT2136854	hsa-miR-495	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT1456601	hsa-miR-137	CLIP-seq
MIRT1456603	hsa-miR-1537	CLIP-seq
MIRT1456604	hsa-miR-1909	CLIP-seq
MIRT2357625	hsa-miR-198	CLIP-seq
MIRT1456607	hsa-miR-25	CLIP-seq
MIRT2357626	hsa-miR-2964a-5p	CLIP-seq
MIRT2357627	hsa-miR-3064-3p	CLIP-seq
MIRT2357628	hsa-miR-3074-3p	CLIP-seq
MIRT2357629	hsa-miR-3074-5p	CLIP-seq
MIRT1456609	hsa-miR-3119	CLIP-seq
MIRT2357630	hsa-miR-3130-3p	CLIP-seq
MIRT2357631	hsa-miR-3160-3p	CLIP-seq
MIRT1456611	hsa-miR-3192	CLIP-seq
MIRT1456612	hsa-miR-32	CLIP-seq
MIRT2357632	hsa-miR-338-3p	CLIP-seq
MIRT2357633	hsa-miR-361-5p	CLIP-seq
MIRT1456613	hsa-miR-363	CLIP-seq
MIRT2357634	hsa-miR-3649	CLIP-seq
MIRT1456615	hsa-miR-367	CLIP-seq
MIRT1456587	hsa-miR-3689a-5p	CLIP-seq
MIRT1456588	hsa-miR-3689b	CLIP-seq
MIRT1456589	hsa-miR-3689e	CLIP-seq
MIRT1456590	hsa-miR-3689f	CLIP-seq
MIRT1456617	hsa-miR-3908	CLIP-seq
MIRT1456619	hsa-miR-3938	CLIP-seq
MIRT2357635	hsa-miR-4254	CLIP-seq
MIRT2357636	hsa-miR-4264	CLIP-seq
MIRT1456620	hsa-miR-4292	CLIP-seq
MIRT1456621	hsa-miR-4308	CLIP-seq
MIRT2357637	hsa-miR-4325	CLIP-seq
MIRT2357638	hsa-miR-4446-5p	CLIP-seq
MIRT2357639	hsa-miR-450b-5p	CLIP-seq
MIRT2357640	hsa-miR-4530	CLIP-seq
MIRT1456623	hsa-miR-4655-5p	CLIP-seq
MIRT2357641	hsa-miR-4715-3p	CLIP-seq
MIRT2357642	hsa-miR-4755-5p	CLIP-seq
MIRT2357643	hsa-miR-4793-3p	CLIP-seq
MIRT2357644	hsa-miR-4797-3p	CLIP-seq
MIRT1456625	hsa-miR-494	CLIP-seq
MIRT2357645	hsa-miR-507	CLIP-seq
MIRT2357646	hsa-miR-557	CLIP-seq
MIRT2357647	hsa-miR-570	CLIP-seq
MIRT2357648	hsa-miR-619	CLIP-seq
MIRT1456628	hsa-miR-659	CLIP-seq
MIRT1456629	hsa-miR-670	CLIP-seq
MIRT2357649	hsa-miR-759	CLIP-seq
MIRT1456630	hsa-miR-92a	CLIP-seq
MIRT1456631	hsa-miR-92b	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq
MIRT2357624	hsa-miR-129-5p	CLIP-seq
MIRT2462380	hsa-miR-3149	CLIP-seq
MIRT2462381	hsa-miR-411	CLIP-seq
MIRT2462382	hsa-miR-4258	CLIP-seq
MIRT2462383	hsa-miR-4707-3p	CLIP-seq
MIRT2462384	hsa-miR-4735-5p	CLIP-seq
MIRT2462385	hsa-miR-4775	CLIP-seq
MIRT2694207	hsa-miR-5096	CLIP-seq
MIRT2462386	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001556	Process	Oocyte maturation	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003712	Function	Transcription coregulator activity	TAS	7776974
GO:0005515	Function	Protein binding	IPI	16169070, 16189514, 19060904, 21516116, 24722188, 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005524	Function	ATP binding	NAS	9223484
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005694	Component	Chromosome	IBA	21873635
GO:0006302	Process	Double-strand break repair	ISS
GO:0006355	Process	Regulation of transcription, DNA-templated	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	7776974
GO:0007094	Process	Mitotic spindle assembly checkpoint	IMP	28553959
GO:0007130	Process	Synaptonemal complex assembly	ISS
GO:0007131	Process	Reciprocal meiotic recombination	IBA	21873635
GO:0007131	Process	Reciprocal meiotic recombination	ISS
GO:0007141	Process	Male meiosis I	IEA
GO:0007144	Process	Female meiosis I	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007286	Process	Spermatid development	IEA
GO:0016887	Function	ATPase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 16189514, 25416956, 32296183
GO:0048477	Process	Oogenesis	ISS
GO:0051598	Process	Meiotic recombination checkpoint	IBA	21873635

Other IDs

• MIM: 604507
• HGNC: 12307
• e!Ensembl: ENSG00000071539

Protein

• UniProt ID: Q15645
• Protein name: Pachytene checkpoint protein 2 homolog (Human papillomavirus type 16 E1 protein-binding protein) (16E1-BP) (HPV16 E1 protein-binding protein) (Thyroid hormone receptor interactor 13) (Thyroid receptor-interacting protein 13) (TR-interacting protein 13) (T
• Protein function: Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis
• PDB: 5VQ9, 5VQA, 5WC2, 6F0X, 6LK0, 7L9P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00004	AAA	175 → 321	ATPase family associated with various cellular activities (AAA)	Domain

• Sequence:

  MDEAVGDLKQALPCVAESPTVHVEVHQRGSSTAKKEDINLSVRKLLNRHNIVFGDYTWTE
  FDEPFLTRNVQSVSIIDTELKVKDSQPIDLSACTVALHIFQLNEDGPSSENLEEETENII
  AANHWVLPAAEFHGLWDSLVYDVEVKSHLLDYVMTTLLFSDKNVNSNLITWNRVVLLHGP
  PGTGKTSLCKALAQKLTIRLSSRYRYGQLIEINSHSLFSKWFSESGKLVTKMFQKIQDLI
  DDKDALVFVLIDEVESLTAARNACRAGTEPSDAIRVVNAVLTQIDQIKRHSNVVILTTSN
  ITEKIDVAFVDRADIKQYIGPPSAAAIFKIYLSCLEELMKCQIIYPRQQLLTLRELEMIG
  FIENNVSKLSLLLNDISRKSEGLSGRVLRKLPFLAHALYVQAPTVTIEGFLQALSLAVDK
  QFEERKKLAAYI

• Sequence length: 432

Pathways

KEGG:

Cell cycle

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aniridia	Aniridia	rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
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
Cafe-au-lait spot	Cafe au lait spots, multiple	rs1057518792, rs1555613206, rs1555608663
Neoplasm	Neoplasms, Germ Cell and Embryonal, Neoplasms, Embryonal and Mixed	rs137854562, rs137854565, rs137854568, rs137854574, rs121434220, rs121909218, rs121909222, rs587776667, rs606231169, rs587776701, rs121913388, rs137852578, rs137852216, rs121912651, rs28934575, rs28934571, rs121912654, rs11540652, rs28934573, rs28934576, rs28934578, rs121912667, rs104893810, rs121913530, rs121913301, rs79184941, rs121908595, rs11554290, rs121434596, rs121913364, rs121434592, rs121913502, rs11554273, rs121913495, rs121913479, rs121913412, rs121913407, rs80338964, rs377767360, rs387906650, rs121913272, rs63750393, rs587776935, rs121913250, rs121913237, rs397516436, rs121913343, rs397516439, rs397516981, rs121913240, rs121913529, rs121913428, rs121913465, rs397517199, rs397517201, rs45446594, rs45481400, rs80358042, rs146650273, rs63750087, rs398123117, rs201744589, rs587778833, rs587778867, rs587778850, rs587778825, rs587776783, rs587780070, rs587780071, rs587780073, rs587777476, rs587781255, rs587781288, rs587781392, rs587781558, rs80358870, rs587781694, rs587781807, rs587782018, rs587782206, rs121913344, rs587782529, rs587782664, rs587782682, rs587782705, rs121913500, rs121913291, rs587783697, rs587783690, rs587783502, rs193920774, rs724159946, rs730880472, rs564652222, rs730882029, rs730882005, rs730882025, rs730882019, rs869025192, rs768922431, rs786203485, rs786202918, rs398123329, rs786201059, rs121912657, rs786201090, rs786204910, rs786204853, rs121913293, rs121913332, rs797044942, rs121913333, rs863224491, rs863224451, rs863224499, rs760043106, rs863225332, rs864622636, rs864622451, rs779707422, rs879255270, rs875989848, rs876661244, rs876660754, rs746235533, rs876659384, rs587778720, rs483352697, rs876658694, rs121913331, rs55863639, rs786203650, rs879254171, rs80359365, rs886040960, rs886042002, rs886041779, rs1057516620, rs1057517302, rs1057517544, rs1057517992, rs1057518134, rs985033810, rs1057517840, rs587777613, rs147001633, rs377577594, rs121913499, rs121909224, rs1057519724, rs1057519729, rs1057519742, rs121913294, rs121913538, rs121913287, rs121913284, rs74535574, rs1057519757, rs397516790, rs121913285, rs121913387, rs121913236, rs1057519893, rs1057519906, rs1057519929, rs772110575, rs1057519941, rs786202962, rs764146326, rs1057519989, rs121912656, rs1057519992, rs866775781, rs1057519996, rs765848205, rs138729528, rs786201057, rs864622237, rs1057520672, rs1060500766, rs587781702, rs866380588, rs11540654, rs770776262, rs1057519984, rs121913321, rs1064793022, rs1064794276, rs112431538, rs1064794311, rs1064794618, rs1064796632, rs750318549, rs1554897889, rs1554900675, rs1114167568, rs587783031, rs1114167621, rs1114167629, rs1114167657, rs1131690863, rs11575996, rs1131691039, rs1131691026, rs1131690921, rs1131691082, rs863225313, rs1554085846, rs1553647989, rs1554898074, rs764735889, rs553257776, rs1554898067, rs1555615472, rs1060500352, rs1555526131, rs1057519990, rs1270783041, rs1019340046, rs1057523347, rs1553332772, rs1555525429, rs1060500345, rs1554730670, rs1555526469, rs11575997, rs1554069710, rs1555610903, rs1565400045, rs1565486028, rs1569061768, rs1114167577, rs1561588104, rs751448371, rs1564568473, rs1567556930, rs1567555934, rs1559587104, rs1569293373, rs1568498107, rs141798398, rs1597359215, rs757274881, rs1567556123, rs1555525367, rs1202793339, rs1568504941, rs1587330312, rs1060501207, rs1589596415, rs1595314951, rs1598173737, rs1597375294, rs1567555445, rs1595331264, rs1593060859, rs1859977029, rs1217977493, rs1961431691, rs2073243450, rs1724674149, rs1820531050	28553959
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
Colonic neoplasms	Malignant tumor of colon	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483
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
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Holoprosencephaly	Holoprosencephaly	rs121917878, rs121917879, rs121917880, rs1572624159, rs137853021, rs397515364, rs397515365, rs2147483647, rs121909067, rs121909070, rs199476093, rs28936675, rs104894044, rs104894045, rs104894040, rs104894042, rs397515375, rs104894046, rs104894048, rs397515376, rs104894050, rs104894051, rs104894053, rs267607047, rs121917707, rs121917708, rs1594290658, rs387906867, rs387906995, rs387906996, rs387906997, rs398122882, rs397515499, rs397515500, rs397515502, rs587778786, rs587778788, rs587778789, rs587778792, rs146990376, rs587778799, rs587778803, rs587778805, rs587778806, rs794729641, rs864622212, rs876661335, rs876661331, rs876661330, rs876661329, rs886042458, rs1057518696, rs1057518689, rs1057518657, rs1057518660, rs763132615, rs1060499564, rs1060499563, rs1060499562, rs1554691658, rs1555332362, rs753473749, rs1554493810, rs1555332361, rs756225250, rs1554495331, rs528376963, rs1555650923, rs1554834892, rs139565972, rs1554834889, rs1490604080, rs1553337688, rs1554493607, rs1420292012, rs779093031, rs1555332212, rs1456001894, rs1558420022, rs1566405714, rs1567417422, rs1569507848, rs1584800601, rs1594291863, rs1584805934, rs1584806077, rs1594292057, rs1584800607, rs2053256914, rs1317614761, rs2057753419
Hypertension	Hypertensive disease	rs13306026
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Mosaic variegated aneuploidy	Mosaic variegated aneuploidy syndrome 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3, Mosaic variegated aneuploidy syndrome	rs28989186, rs1392909108, rs1565326373, rs1166323407, rs387906977, rs750364303, rs376882637, rs1131692330, rs1555052278, rs769350713, rs767213728, rs759242053, rs1565334264, rs1566824608, rs1401171363, rs1566830754, rs1590962541, rs771182933, rs1595533765, rs1595540088, rs2037151440, rs992789522, rs2037346846, rs2037350060	28553959
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28553959
Rhabdomyosarcoma	Rhabdomyosarcoma	rs137854557, rs121909224, rs63751466, rs11540652, rs28934874, rs104894229, rs104894230, rs267606708, rs80357867, rs276174889, rs80359011, rs80358556, rs80359391, rs80357989, rs886037650, rs886037651, rs201744589, rs587780067, rs587781462, rs587782144, rs55863639, rs768638173, rs864622639, rs875989784, rs876657714, rs878855246, rs199474742, rs879253942, rs886037721, rs1057519989, rs750380279, rs1131691211, rs1202793339, rs1567611375
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119, rs122453121, rs869025310, rs121907903, rs1131690795, rs1554945033, rs1423753702, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs771527206, rs2071072322	28553959

Unknown
Disease term	Disease name	Evidence	References	Source
Ambiguous genitalia	Ambiguous Genitalia			ClinVar
Oocyte Maturation Defect	oocyte maturation defect 9			GenCC
Mosaic Variegated Aneuploidy	mosaic variegated aneuploidy syndrome, mosaic variegated aneuploidy syndrome 3			GenCC
Stress Disorder	Stress Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Stimulate	31093306
Adenocarcinoma of Lung	Stimulate	33136091, 40441196
Adenocarcinoma of Lung	Associate	38216586
Anemia Hemolytic	Associate	31915374
Breast Neoplasms	Stimulate	40441196
Carcinogenesis	Associate	30720159, 31337978, 33136091, 35114976
Carcinogenesis	Stimulate	31740732
Carcinoma Hepatocellular	Associate	35907846, 36031387, 36785674, 40441196
Carcinoma Non Small Cell Lung	Stimulate	34184074
Carcinoma Non Small Cell Lung	Associate	36896765
Carcinoma Ovarian Epithelial	Stimulate	30720159
Carcinoma Renal Cell	Associate	29968393, 31739630, 32633782
Carcinoma Renal Cell	Stimulate	40441196
Carcinoma Squamous Cell	Associate	40441196
Colorectal Neoplasms	Associate	27609023, 33237662, 35114976
Colorectal Neoplasms	Stimulate	37750623
Esophageal Squamous Cell Carcinoma	Associate	35601150
Glioblastoma	Associate	31740732
Glioma	Associate	31740732
Head and Neck Neoplasms	Associate	34111559
Infertility	Associate	32473092, 38216586
Infertility Female	Associate	32473092, 37340965
Inflammation	Associate	37904396
Leukemia Lymphocytic Chronic B Cell	Associate	28424416
Lung Neoplasms	Associate	28056099, 33136091, 34184074, 40441196
Lymphatic Metastasis	Stimulate	31337978
Lymphoma Large B Cell Diffuse	Associate	39261532
Lymphoma Non Hodgkin	Associate	37828118
Mesothelioma	Stimulate	40441196
Multiple Myeloma	Associate	35197447
Necrosis	Associate	37904396
Neoplasm Metastasis	Stimulate	31337978
Neoplasm Metastasis	Associate	31486418, 33136091, 34184074
Neoplasm Metastasis	Inhibit	31648166
Neoplasms	Associate	26527623, 30720159, 31337978, 31486418, 31740732, 33051298, 34111559, 35601150, 35972731, 36896765, 37904396, 40441196
Neoplasms Germ Cell and Embryonal	Associate	28553959
Prostatic Neoplasms	Associate	22075945
Radiation Injuries	Associate	34111559
Stomach Diseases	Associate	37904396
Stomach Neoplasms	Associate	37904396
Thyroid Cancer Papillary	Associate	32065787
Thyroid Neoplasms	Associate	31648166
Thyroid Neoplasms	Stimulate	40441196
Urinary Bladder Neoplasms	Associate	31337978, 31486418, 40441196
Wilms Tumor	Associate	28553959, 32473092