PRR12 (proline rich 12)

Gene

• Entrez ID: 57479
• Gene name: Proline rich 12
• Gene symbol: PRR12
• Synonyms (NCBI Gene): KIAA1205, NOC
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neurops

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555740394	->ACCACCC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1555740650	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1555741826	TGCC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051075	hsa-miR-16-5p	CLASH	23622248
MIRT049155	hsa-miR-92a-3p	CLASH	23622248
MIRT047382	hsa-miR-34a-5p	CLASH	23622248
MIRT044430	hsa-miR-320a	CLASH	23622248
MIRT039614	hsa-miR-615-3p	CLASH	23622248
MIRT037713	hsa-miR-744-5p	CLASH	23622248
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT453557	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT453556	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453554	hsa-miR-4419a	PAR-CLIP	23592263
MIRT453555	hsa-miR-4510	PAR-CLIP	23592263
MIRT453553	hsa-miR-6127	PAR-CLIP	23592263
MIRT453552	hsa-miR-6129	PAR-CLIP	23592263
MIRT453551	hsa-miR-6130	PAR-CLIP	23592263
MIRT453550	hsa-miR-6133	PAR-CLIP	23592263
MIRT453549	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT453548	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT453546	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT453547	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453545	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453544	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453543	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453542	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453541	hsa-miR-3175	PAR-CLIP	23592263
MIRT453540	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT453539	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT453538	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453537	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT453535	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT453536	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT453534	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453533	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT453532	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT453531	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT453530	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	27292025
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT521624	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT521622	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT453557	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT453556	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT453554	hsa-miR-4419a	PAR-CLIP	23592263
MIRT453555	hsa-miR-4510	PAR-CLIP	23592263
MIRT453553	hsa-miR-6127	PAR-CLIP	23592263
MIRT453552	hsa-miR-6129	PAR-CLIP	23592263
MIRT453551	hsa-miR-6130	PAR-CLIP	23592263
MIRT453550	hsa-miR-6133	PAR-CLIP	23592263
MIRT453549	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT453548	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT453546	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT453547	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT453545	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT453544	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT453543	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT453542	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT453541	hsa-miR-3175	PAR-CLIP	23592263
MIRT453540	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT453539	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT453538	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT453537	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT453535	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT453536	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT453534	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT453533	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT453532	hsa-miR-6515-5p	PAR-CLIP	23592263
MIRT453531	hsa-miR-3150a-3p	PAR-CLIP	23592263
MIRT453530	hsa-miR-6763-5p	PAR-CLIP	23592263
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266471	hsa-miR-1276	CLIP-seq
MIRT1266472	hsa-miR-128	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266475	hsa-miR-147	CLIP-seq
MIRT1266476	hsa-miR-1908	CLIP-seq
MIRT1266477	hsa-miR-219-1-3p	CLIP-seq
MIRT1266478	hsa-miR-300	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT1266480	hsa-miR-3151	CLIP-seq
MIRT1266481	hsa-miR-3153	CLIP-seq
MIRT1266482	hsa-miR-3177-5p	CLIP-seq
MIRT1266483	hsa-miR-3180	CLIP-seq
MIRT1266484	hsa-miR-3180-3p	CLIP-seq
MIRT1266485	hsa-miR-3196	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT1266487	hsa-miR-323b-5p	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT1266491	hsa-miR-3613-5p	CLIP-seq
MIRT1266492	hsa-miR-3652	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266496	hsa-miR-376c	CLIP-seq
MIRT1266497	hsa-miR-381	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT1266500	hsa-miR-4428	CLIP-seq
MIRT1266501	hsa-miR-4430	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266506	hsa-miR-4505	CLIP-seq
MIRT1266507	hsa-miR-451b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT1266509	hsa-miR-4649-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT1266511	hsa-miR-4666-3p	CLIP-seq
MIRT1266512	hsa-miR-4672	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT1266516	hsa-miR-4779	CLIP-seq
MIRT1266517	hsa-miR-571	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT1266520	hsa-miR-647	CLIP-seq
MIRT1266521	hsa-miR-663	CLIP-seq
MIRT1266522	hsa-miR-765	CLIP-seq
MIRT1266523	hsa-miR-939	CLIP-seq
MIRT2078277	hsa-miR-1197	CLIP-seq
MIRT2078278	hsa-miR-1200	CLIP-seq
MIRT2078279	hsa-miR-1224-5p	CLIP-seq
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT2078280	hsa-miR-3144-5p	CLIP-seq
MIRT2078281	hsa-miR-3152-3p	CLIP-seq
MIRT1266483	hsa-miR-3180	CLIP-seq
MIRT1266484	hsa-miR-3180-3p	CLIP-seq
MIRT2078282	hsa-miR-3184	CLIP-seq
MIRT1266485	hsa-miR-3196	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT2078283	hsa-miR-361-3p	CLIP-seq
MIRT2078284	hsa-miR-3679-3p	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266496	hsa-miR-376c	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT2078285	hsa-miR-3934	CLIP-seq
MIRT2078286	hsa-miR-423-5p	CLIP-seq
MIRT2078287	hsa-miR-4324	CLIP-seq
MIRT2078288	hsa-miR-4447	CLIP-seq
MIRT2078289	hsa-miR-4462	CLIP-seq
MIRT2078290	hsa-miR-4472	CLIP-seq
MIRT2078291	hsa-miR-4481	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT2078292	hsa-miR-4534	CLIP-seq
MIRT2078293	hsa-miR-4640-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT2078294	hsa-miR-4688	CLIP-seq
MIRT2078295	hsa-miR-4694-5p	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT2078296	hsa-miR-4707-5p	CLIP-seq
MIRT2078297	hsa-miR-4713-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT2078298	hsa-miR-4726-3p	CLIP-seq
MIRT2078299	hsa-miR-4726-5p	CLIP-seq
MIRT2078300	hsa-miR-4745-5p	CLIP-seq
MIRT2078301	hsa-miR-4751	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT2078303	hsa-miR-544b	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT1266523	hsa-miR-939	CLIP-seq
MIRT1266470	hsa-miR-1275	CLIP-seq
MIRT1266473	hsa-miR-1284	CLIP-seq
MIRT1266474	hsa-miR-1293	CLIP-seq
MIRT1266479	hsa-miR-3121-3p	CLIP-seq
MIRT2078281	hsa-miR-3152-3p	CLIP-seq
MIRT2078282	hsa-miR-3184	CLIP-seq
MIRT1266486	hsa-miR-323-3p	CLIP-seq
MIRT2304704	hsa-miR-329	CLIP-seq
MIRT1266488	hsa-miR-337-3p	CLIP-seq
MIRT1266489	hsa-miR-34a	CLIP-seq
MIRT1266490	hsa-miR-34c-5p	CLIP-seq
MIRT2304705	hsa-miR-362-3p	CLIP-seq
MIRT1266493	hsa-miR-3685	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT1266498	hsa-miR-384	CLIP-seq
MIRT1266499	hsa-miR-3924	CLIP-seq
MIRT2078285	hsa-miR-3934	CLIP-seq
MIRT2078286	hsa-miR-423-5p	CLIP-seq
MIRT2078288	hsa-miR-4447	CLIP-seq
MIRT2078290	hsa-miR-4472	CLIP-seq
MIRT2078291	hsa-miR-4481	CLIP-seq
MIRT1266502	hsa-miR-4483	CLIP-seq
MIRT1266503	hsa-miR-4488	CLIP-seq
MIRT1266504	hsa-miR-449a	CLIP-seq
MIRT1266505	hsa-miR-449b	CLIP-seq
MIRT1266508	hsa-miR-4525	CLIP-seq
MIRT2078292	hsa-miR-4534	CLIP-seq
MIRT2078293	hsa-miR-4640-5p	CLIP-seq
MIRT1266510	hsa-miR-4665-5p	CLIP-seq
MIRT2078294	hsa-miR-4688	CLIP-seq
MIRT2078295	hsa-miR-4694-5p	CLIP-seq
MIRT1266513	hsa-miR-4697-5p	CLIP-seq
MIRT1266514	hsa-miR-4723-5p	CLIP-seq
MIRT2078298	hsa-miR-4726-3p	CLIP-seq
MIRT2078299	hsa-miR-4726-5p	CLIP-seq
MIRT2078300	hsa-miR-4745-5p	CLIP-seq
MIRT1266515	hsa-miR-4761-5p	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT1266518	hsa-miR-624	CLIP-seq
MIRT1266519	hsa-miR-625	CLIP-seq
MIRT2601787	hsa-miR-146b-3p	CLIP-seq
MIRT2601788	hsa-miR-3173-5p	CLIP-seq
MIRT2601789	hsa-miR-4254	CLIP-seq
MIRT2601790	hsa-miR-4308	CLIP-seq
MIRT2601791	hsa-miR-874	CLIP-seq
MIRT2601787	hsa-miR-146b-3p	CLIP-seq
MIRT2601788	hsa-miR-3173-5p	CLIP-seq
MIRT1266494	hsa-miR-3689a-3p	CLIP-seq
MIRT1266495	hsa-miR-3689c	CLIP-seq
MIRT2601789	hsa-miR-4254	CLIP-seq
MIRT2601790	hsa-miR-4308	CLIP-seq
MIRT2078302	hsa-miR-486-3p	CLIP-seq
MIRT2601791	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0043005	Component	Neuron projection	IEA

Other IDs

• MIM: 616633
• HGNC: 29217
• e!Ensembl: ENSG00000126464

Protein

• UniProt ID: Q9ULL5
• Protein name: Proline-rich protein 12
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13926	DUF4211	1818 → 1945	Domain of unknown function (DUF4211)	Family

• Sequence:

  MDRNYPSAGFGDPLGAGAGWSYERSAKASLVYGSSRTSHPETDILHRQAYAAPHPLQSYA
  TNHHPAGLSGLFDTGLHHAGSAGPDASVMNLISALESRGPQPGPSASSLLSQFRSPSWQT
  AMHTPGPTELFISGALPGSSTFPSSSALSAYQHPASFGSRPFPVPSSLSLQDPPFSPPAN
  GLLSPHDVLHLKPSQAPTVPSSLGFERLAGGGVLGPAGLGPAQTPPYRPGPPDPPPPPRH
  LPTQFNLLASSSAAAAAAEQSSPQLYNFSGAAPGPPPPERALPRQDTVIKHYQRPASAQP
  PPPPPPAHALQHYLSCGGSYPSMGHRANLACSPLGGGEPSPGAGEPSKAGPSGATAGASG
  RATGPEAAGGGGAGGGGGGYRPIIQSPGYKTGKGGYGAAAGGATRPPPPRSTATPKCQSL
  GGPAAAYATGKASGAGGAGGQAYSPGQPQGLLGPQAYGQGFGGGQAQDLSKAPSYSGGPP
  QPPSGPPPPGLATCQSYSPDQLQGQLYGVQGEPYPGPAAHSQGLPTASPSLSYSTGHSPA
  LSGHGGGWGPSSLGGGGEASPSHIIRPLQSPPATGRPPGVGSPGAPGKYLSSVLASAPFL
  APPGAGSYAAGAGGYKGKGDGSELLAGPGGPPAERTEDEEFLIQHLLQAPSPPRTSGADG
  LVGEDGAADASKGLGGSGGAGGPPGTPYELAKEDPQRYHLQSVIRTSASLDEGATAALEL
  GLGRLKEKKKGPERGGETPEGLATSVVHYGAGAKELGAFLQKSPPPPPPTAQSTQPTPHG
  LLLEAGGPDLPLVLPPPPPQLLPSVLSHAPSPSPSASKVGVHLLEPATRDGAPQPPPPPP
  PPPPPMPLQLEAHLRSHGLEPAAPSPRLRPEESLDPPGAMQELLGALEPLPPAPGDTGVG
  PPNSEGKDPAGAYRSPSPQGTKAPRFVPLTSICFPDSLLQDEERSFFPTMEEMFGGGAAD
  DYGKAGPPEDEGDPKAGAGPPPGPPAYDPYGPYCPGRASGAGPETPGLGLDPNKPPELPS
  TVNAEPLGLIQSGPHQAAPPPPPPPPPPPAPASEPKGGLTSPIFCSTKPKKLLKTSSFHL
  LRRRDPPFQTPKKLYAQEYEFEADEDKADVPADIRLNPRRLPDLVSSCRSRPALSPLGDI
  DFCPPNPGPDGPRRRGRKPTKAKRDGPPRPRGRPRIRPLEVPTTAGPASASTPTDGAKKP
  RGRGRGRGRKAEEAGGTRLEPLKPLKIKLSVPKAGEGLGTSSGDAISGTDHNSLDSSLTR
  EKIEAKIKEVEEKQPEMKSGFMASFLDFLKSGKRHPPLYQAGLTPPLSPPKSVPPSVPAR
  GLQPQPPATPAVPHPPPSGAFGLGGALEAAESEGLGLGCPSPCKRLDEELKRNLETLPSF
  SSDEEDSVAKNRDLQESISSAISALDDPPLAGPKDTSTPDGPPLAPAAAVPGPPPLPGLP
  SANSNGTPEPPLLEEKPPPTPPPAPTPQPQPPPPPPPPQPALPSPPPLVAPTPSSPPPPP
  LPPPPPPAMPSPPPPPPPAAAPLAAPPEEPAAPSPEDPELPDTRPLHLAKKQETAAVCGE
  TDEEAGESGGEGIFRERDEFVIRAEDIPSLKLALQTGREPPPIWRVQKALLQKFTPEIKD
  GQRQFCATSNYLGYFGDAKNRYQRLYVKFLENVNKKDYVRVCARKPWHRPPVPVRRSGQA
  KNPVSAGGSSAPPPKAPAPPPKPETPEKTTSEKPPEQTPETAMPEPPAPEKPSLLRPVEK
  EKEKEKVTRGERPLRGERATSGRQTRPERSLATGQPATSRLPKARPTKVKAEPPPKKRKK
  WLKEAGGNATAGGGPPGSSSDSESSPGAPSEDERAVPGRLLKTRAMREMYRSYVEMLVST
  ALDPDMIQALEDTHDELYLPPMRKIDGLLNEHKKKVLKRLSLSPALQDALHTFPQLQVEQ
  SGEGSPEEGAVRLRPAGEPYNRKTLSKLKRSVVRAQEFKVELEKSGYYTLYHSLHHYKYH
  TFLRCRDQTLAIEGGAEDLGQEEVVQQCMRNQPWLEQLFDSFSDLLAQAQAHSRCG

• Sequence length: 2036

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
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	29556724
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
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	29556724
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	30573655

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Cryptorchidism	Associate	33314030
Feeding and Eating Disorders	Associate	35057575
Glioma	Associate	31884342
Growth Disorders	Associate	33314030
Inflammation	Associate	32597225
Intellectual Disability	Associate	33314030
Iris Diseases	Associate	33314030
Mental Disorders	Associate	33314030
Microphthalmos	Associate	33314030
Nonsyndromic Deafness	Associate	33314030
Peters anomaly	Associate	33314030