POLR1D (RNA polymerase I and III subunit D)

Gene

• Entrez ID: 51082
• Gene name: RNA polymerase I and III subunit D
• Gene symbol: POLR1D
• Synonyms (NCBI Gene): AC19, POLR1C, RPA16, RPA9, RPAC2, RPC16, RPO1-3, TCS2
• Disease Acronyms (UniProt): TCS2
• Chromosome: 13
• Chromosome location: 13q12.2
• Summary: The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins synd

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1593275599	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, intron variant
rs1593275616	->GG	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027718	hsa-miR-98-5p	Microarray	19088304
MIRT038262	hsa-miR-374a-3p	CLASH	23622248
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	19536157
MIRT640827	hsa-miR-186-3p	HITS-CLIP	19536157
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT645720	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT640828	hsa-miR-589-3p	HITS-CLIP	23824327
MIRT640827	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT521830	hsa-miR-302f	PAR-CLIP	23446348
MIRT521829	hsa-miR-4459	PAR-CLIP	23446348
MIRT521828	hsa-miR-665	PAR-CLIP	23446348
MIRT521827	hsa-miR-6840-3p	PAR-CLIP	23446348
MIRT368709	hsa-miR-4324	PAR-CLIP	23446348
MIRT368708	hsa-miR-544b	PAR-CLIP	23446348
MIRT521826	hsa-miR-3653-5p	PAR-CLIP	23446348
MIRT521825	hsa-miR-4251	PAR-CLIP	23446348
MIRT521824	hsa-miR-17-3p	PAR-CLIP	23446348
MIRT521823	hsa-miR-219b-3p	PAR-CLIP	23446348
MIRT521822	hsa-miR-6499-3p	PAR-CLIP	23446348
MIRT521821	hsa-miR-766-5p	PAR-CLIP	23446348
MIRT368706	hsa-miR-1200	PAR-CLIP	23446348
MIRT521820	hsa-miR-580-3p	PAR-CLIP	23446348
MIRT521819	hsa-miR-1273e	PAR-CLIP	23446348
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT1248320	hsa-miR-217	CLIP-seq
MIRT1248321	hsa-miR-3130-3p	CLIP-seq
MIRT1248322	hsa-miR-4277	CLIP-seq
MIRT1248323	hsa-miR-4279	CLIP-seq
MIRT1248324	hsa-miR-4314	CLIP-seq
MIRT1248325	hsa-miR-4418	CLIP-seq
MIRT1248326	hsa-miR-4436a	CLIP-seq
MIRT1248327	hsa-miR-4700-3p	CLIP-seq
MIRT1248328	hsa-miR-4718	CLIP-seq
MIRT1248329	hsa-miR-4728-3p	CLIP-seq
MIRT1248330	hsa-miR-4735-5p	CLIP-seq
MIRT1248331	hsa-miR-4793-3p	CLIP-seq
MIRT1248332	hsa-miR-4797-5p	CLIP-seq
MIRT1248333	hsa-miR-509-3-5p	CLIP-seq
MIRT1248334	hsa-miR-509-5p	CLIP-seq
MIRT1248335	hsa-miR-544	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248338	hsa-miR-643	CLIP-seq
MIRT1248339	hsa-miR-767-5p	CLIP-seq
MIRT1248340	hsa-miR-873	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT1248343	hsa-miR-1324	CLIP-seq
MIRT1248344	hsa-miR-2054	CLIP-seq
MIRT1248345	hsa-miR-21	CLIP-seq
MIRT1248346	hsa-miR-218	CLIP-seq
MIRT1248347	hsa-miR-3148	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248350	hsa-miR-3617	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248354	hsa-miR-3978	CLIP-seq
MIRT1248355	hsa-miR-4263	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT1248357	hsa-miR-4480	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT1248367	hsa-miR-4778-3p	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT1248336	hsa-miR-568	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT1248369	hsa-miR-590-5p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248371	hsa-miR-641	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248319	hsa-miR-1252	CLIP-seq
MIRT2073304	hsa-miR-142-5p	CLIP-seq
MIRT2073305	hsa-miR-186	CLIP-seq
MIRT2073306	hsa-miR-3133	CLIP-seq
MIRT2073307	hsa-miR-340	CLIP-seq
MIRT1248356	hsa-miR-4464	CLIP-seq
MIRT2073308	hsa-miR-4490	CLIP-seq
MIRT2073309	hsa-miR-4691-5p	CLIP-seq
MIRT1248362	hsa-miR-4748	CLIP-seq
MIRT1248368	hsa-miR-488	CLIP-seq
MIRT2073310	hsa-miR-552	CLIP-seq
MIRT1248337	hsa-miR-576-5p	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300394	hsa-miR-423-3p	CLIP-seq
MIRT2300395	hsa-miR-4660	CLIP-seq
MIRT2300396	hsa-miR-4730	CLIP-seq
MIRT2073311	hsa-miR-642b	CLIP-seq
MIRT2300397	hsa-miR-646	CLIP-seq
MIRT2300398	hsa-miR-4325	CLIP-seq
MIRT2300399	hsa-miR-507	CLIP-seq
MIRT2300400	hsa-miR-557	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT2597147	hsa-miR-1294	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT2597155	hsa-miR-4316	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597156	hsa-miR-4775	CLIP-seq
MIRT2597157	hsa-miR-494	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT2597159	hsa-miR-590-3p	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq
MIRT1248341	hsa-miR-1224-5p	CLIP-seq
MIRT2597145	hsa-miR-1237	CLIP-seq
MIRT2597146	hsa-miR-1248	CLIP-seq
MIRT1248342	hsa-miR-1321	CLIP-seq
MIRT2597148	hsa-miR-141	CLIP-seq
MIRT2597149	hsa-miR-200a	CLIP-seq
MIRT2597150	hsa-miR-3119	CLIP-seq
MIRT2597151	hsa-miR-3145-5p	CLIP-seq
MIRT2597152	hsa-miR-3158-3p	CLIP-seq
MIRT1248348	hsa-miR-3162-5p	CLIP-seq
MIRT2597153	hsa-miR-3171	CLIP-seq
MIRT1248349	hsa-miR-3200-5p	CLIP-seq
MIRT1248351	hsa-miR-3622b-5p	CLIP-seq
MIRT2597154	hsa-miR-3668	CLIP-seq
MIRT1248352	hsa-miR-3682-3p	CLIP-seq
MIRT1248353	hsa-miR-3688-5p	CLIP-seq
MIRT1248358	hsa-miR-4645-5p	CLIP-seq
MIRT1248359	hsa-miR-4649-3p	CLIP-seq
MIRT1248360	hsa-miR-4673	CLIP-seq
MIRT1248361	hsa-miR-4739	CLIP-seq
MIRT1248363	hsa-miR-4751	CLIP-seq
MIRT1248364	hsa-miR-4755-3p	CLIP-seq
MIRT1248365	hsa-miR-4756-5p	CLIP-seq
MIRT1248366	hsa-miR-4764-5p	CLIP-seq
MIRT2597158	hsa-miR-578	CLIP-seq
MIRT1248370	hsa-miR-604	CLIP-seq
MIRT1248372	hsa-miR-647	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0003899	Function	DNA-directed 5'-3' RNA polymerase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 25416956, 32296183, 32814053
GO:0005666	Component	RNA polymerase III complex	IBA	21873635
GO:0005736	Component	RNA polymerase I complex	IBA	21873635
GO:0006351	Process	Transcription, DNA-templated	IEA
GO:0046983	Function	Protein dimerization activity	IEA

Other IDs

• MIM: 613715
• HGNC: 20422
• e!Ensembl: ENSG00000186184

Protein

• UniProt ID: P0DPB6
• Protein name: DNA-directed RNA polymerases I and III subunit RPAC2 (RNA polymerases I and III subunit AC2) (AC19) (DNA-directed RNA polymerase I subunit D) (RNA polymerase I 16 kDa subunit) (RPA16) (RPC16) (hRPA19)
• Protein function: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs
• PDB: 7A6H, 7AE1, 7AE3, 7AEA, 7AST, 7D58, 7D59, 7DN3, 7DU2, 7FJI, 7FJJ, 7OB9, 7OBA, 7OBB, 7VBA, 7VBB, 7VBC, 8A43, 8ITY, 8IUE, 8IUH, 9FSO, 9FSP, 9FSQ, 9FSR, 9FSS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13656	RNA_pol_L_2	39 → 113	RNA polymerase Rpb3/Rpb11 dimerisation domain	Domain

• Sequence:

  MEEDQELERKISGLKTSMAEGERKTALEMVQAAGTDRHCVTFVLHEEDHTLGNSLRYMIM
  KNPEVEFCGYTTTHPSESKINLRIQTRGTLPAVEPFQRGLNELMNVCQHVLDKFEASIKD
  YKDQKASRNESTF

• Sequence length: 133
• UniProt ID: P0DPB5
• Protein name: Protein POLR1D, isoform 2
• Sequence:

  MEEDQELERKAIEELLKEAKRGKTRAETMGPMGWMKCPLASTNKRFLINTIKNTLPSHKE
  QDHEQKEGDKEPAKSQAQKEENPKKHRSHPYKHSFRARGSASYSPPRKRSSQDKYEKRSN
  RR

• Sequence length: 122

Pathways

KEGG:

RNA polymerase
Cytosolic DNA-sensing pathway

Reactome:

Cytosolic sensors of pathogen-associated DNA
B-WICH complex positively regulates rRNA expression
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase I Transcription Termination
RNA Polymerase III Transcription Initiation From Type 1 Promoter
RNA Polymerase III Transcription Initiation From Type 2 Promoter
RNA Polymerase III Transcription Initiation From Type 3 Promoter

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
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
Enchondromatosis	Enchondromatosis	rs62193615, rs121913500, rs121913499
Hearing loss	Conductive hearing loss	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
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382	27602772
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Treacher collins syndrome	TREACHER COLLINS SYNDROME 2, Treacher-Collins syndrome	rs119470016, rs587776580, rs587776581, rs587776582, rs28941769, rs587776583, rs119470017, rs587776584, rs587776585, rs191582628, rs1335699710, rs387907020, rs2127686639, rs141156009, rs1593275599, rs767196650, rs1593275448, rs2138519194, rs1593275616, rs1593275363, rs587777314, rs587777841, rs786205575, rs796052127, rs797046037, rs780663139, rs886041506, rs1057521108, rs1064794474, rs896979080, rs764314276, rs748805008, rs1554080589, rs1554081112, rs1554137531, rs1554138819, rs1554137419, rs1554081168, rs1554081108, rs1554136123, rs1554138811, rs1554078461, rs1554131502, rs1562347303, rs1561540623, rs1581114957, rs1581136492, rs1581210464, rs1581223107, rs1581064385, rs1581203344, rs1581075356, rs1581224630, rs1767064064, rs35868965, rs1767850450	21131976, 8955128

Unknown
Disease term	Disease name	Evidence	References	Source
Treacher Collins syndrome	Treacher-Collins syndrome			GenCC
Metabolic Syndrome	Metabolic Syndrome			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Colorectal Neoplasms	Associate	19359472, 32087735
Kininogen Deficiency High Molecular Weight and Low Molecular Weight	Associate	25790162
Mandibulofacial Dysostosis	Associate	24603435, 25790162, 31307516, 32537850, 37222571, 39518953
Multiple Sclerosis	Associate	23077530
Neoplasms	Inhibit	19359472
Parkinson Disease	Associate	31199560
Squamous Cell Carcinoma of Head and Neck	Associate	38256104