APRT (adenine phosphoribosyltransferase)

Gene

• Entrez ID: 353
• Gene name: Adenine phosphoribosyltransferase
• Gene symbol: APRT
• Synonyms (NCBI Gene): AMP, APRTD
• Disease Acronyms (UniProt): APRTD
• Chromosome: 16
• Chromosome location: 16q24.3
• Summary: Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from ade

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28999113	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104894506	T>A	Pathogenic	Coding sequence variant, missense variant
rs104894507	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894508	A>G	Pathogenic	Coding sequence variant, missense variant
rs281860263	->A	Pathogenic	Splice donor variant
rs281860265	->TCGG	Pathogenic	Frameshift variant, coding sequence variant
rs281860266	C>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs745594160	->A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032354	hsa-let-7b-5p	Proteomics	18668040
MIRT047618	hsa-miR-10a-5p	CLASH	23622248
MIRT046502	hsa-miR-15b-5p	CLASH	23622248
MIRT042963	hsa-miR-324-3p	CLASH	23622248
MIRT042286	hsa-miR-484	CLASH	23622248
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT791305	hsa-miR-3153	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT791307	hsa-miR-320a	CLIP-seq
MIRT791308	hsa-miR-320b	CLIP-seq
MIRT791309	hsa-miR-320c	CLIP-seq
MIRT791310	hsa-miR-320d	CLIP-seq
MIRT791311	hsa-miR-3940-5p	CLIP-seq
MIRT791312	hsa-miR-4429	CLIP-seq
MIRT791313	hsa-miR-4507	CLIP-seq
MIRT791314	hsa-miR-4648	CLIP-seq
MIRT791315	hsa-miR-4654	CLIP-seq
MIRT791316	hsa-miR-4668-5p	CLIP-seq
MIRT791317	hsa-miR-4713-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT791319	hsa-miR-4769-5p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT791322	hsa-miR-1291	CLIP-seq
MIRT791323	hsa-miR-146b-3p	CLIP-seq
MIRT791324	hsa-miR-3192	CLIP-seq
MIRT791325	hsa-miR-3689a-3p	CLIP-seq
MIRT791326	hsa-miR-3689c	CLIP-seq
MIRT791327	hsa-miR-4492	CLIP-seq
MIRT791328	hsa-miR-4498	CLIP-seq
MIRT791329	hsa-miR-4505	CLIP-seq
MIRT791330	hsa-miR-4728-5p	CLIP-seq
MIRT791331	hsa-miR-762	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT1933418	hsa-miR-1207-3p	CLIP-seq
MIRT1933419	hsa-miR-1270	CLIP-seq
MIRT1933420	hsa-miR-3135b	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT1933424	hsa-miR-4267	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933429	hsa-miR-4683	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT1933432	hsa-miR-4781-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT1933435	hsa-miR-620	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT1933421	hsa-miR-3145-3p	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT1933423	hsa-miR-3929	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2173536	hsa-miR-4292	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2173537	hsa-miR-4308	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933426	hsa-miR-4419b	CLIP-seq
MIRT2173538	hsa-miR-4446-5p	CLIP-seq
MIRT1933427	hsa-miR-4478	CLIP-seq
MIRT1933428	hsa-miR-450b-3p	CLIP-seq
MIRT1933430	hsa-miR-4713-3p	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT2173539	hsa-miR-4755-5p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT1933436	hsa-miR-638	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT1933437	hsa-miR-769-3p	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq
MIRT2477085	hsa-miR-1	CLIP-seq
MIRT791303	hsa-miR-1271	CLIP-seq
MIRT791304	hsa-miR-182	CLIP-seq
MIRT2477086	hsa-miR-206	CLIP-seq
MIRT791306	hsa-miR-3189-5p	CLIP-seq
MIRT2477087	hsa-miR-3197	CLIP-seq
MIRT1933422	hsa-miR-331-3p	CLIP-seq
MIRT2477088	hsa-miR-339-5p	CLIP-seq
MIRT2477089	hsa-miR-4265	CLIP-seq
MIRT2477090	hsa-miR-4296	CLIP-seq
MIRT2477091	hsa-miR-4322	CLIP-seq
MIRT2477092	hsa-miR-4323	CLIP-seq
MIRT2477093	hsa-miR-4417	CLIP-seq
MIRT1933425	hsa-miR-4418	CLIP-seq
MIRT1933431	hsa-miR-4749-3p	CLIP-seq
MIRT791318	hsa-miR-4758-3p	CLIP-seq
MIRT2477094	hsa-miR-4768-3p	CLIP-seq
MIRT791320	hsa-miR-494	CLIP-seq
MIRT1933433	hsa-miR-509-3-5p	CLIP-seq
MIRT1933434	hsa-miR-509-5p	CLIP-seq
MIRT2477095	hsa-miR-545	CLIP-seq
MIRT2477096	hsa-miR-613	CLIP-seq
MIRT2477097	hsa-miR-665	CLIP-seq
MIRT2173540	hsa-miR-670	CLIP-seq
MIRT791321	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002055	Function	Adenine binding	IBA	21873635
GO:0003999	Function	Adenine phosphoribosyltransferase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	TAS	16130169
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006166	Process	Purine ribonucleoside salvage	IEA
GO:0006168	Process	Adenine salvage	IBA	21873635
GO:0007595	Process	Lactation	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0016208	Function	AMP binding	IBA	21873635
GO:0016208	Function	AMP binding	IDA	15196008
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043101	Process	Purine-containing compound salvage	TAS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044209	Process	AMP salvage	IBA	21873635
GO:0044209	Process	AMP salvage	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145

Other IDs

• MIM: 102600
• HGNC: 626
• e!Ensembl: ENSG00000198931

Protein

• UniProt ID: P07741
• Protein name: Adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7)
• Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
• PDB: 1ORE, 1ZN7, 1ZN8, 1ZN9, 4X44, 4X45, 6FCH, 6FCI, 6FCL, 6FD4, 6FD5, 6FD6, 6HGP, 6HGQ, 6HGR, 6HGS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00156	Pribosyltran	28 → 174	Phosphoribosyl transferase domain	Domain

• Sequence:

  MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDY
  IAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPG
  QRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
  

• Sequence length: 180

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Neutrophil degranulation
Purine salvage

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenine phosphoribosyltransferase deficiency	Adenine phosphoribosyltransferase deficiency	rs281860263, rs28999113, rs104894506, rs104894507, rs281860265, rs104894508, rs387906584, rs281860266	1746557, 22212387, 11243733, 7915931, 1353080, 21635362, 15571218, 27604308, 3343350, 22700886, 3680503
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	17659439
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	17659439
Kidney disease	Chronic kidney disease stage 5, Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	22212387
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	17659439
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	15108329
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	15108329
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma		15108329	ClinVar
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder		23531112, 21924326, 17700644, 19917299, 2414305, 11099740	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenine phosphoribosyltransferase deficiency	Associate	1609669, 1673292, 2502918, 33707627, 9255672
Adenine phosphoribosyltransferase deficiency	Inhibit	1746557
Alzheimer Disease	Associate	25311278
Asthma	Associate	34494468
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome	Associate	34494468
Breast Neoplasms	Associate	35351580
Cardiomyopathy Hypertrophic	Associate	23997074
Chromosome Aberrations	Associate	36433728
Color Vision Defects	Associate	37689994
Colorectal Neoplasms	Associate	8887680
Glioblastoma	Associate	35757013
Gliosarcoma	Associate	35757013
Lesch Nyhan Syndrome	Associate	1155984
Leukemia T Cell	Associate	29084986
Lymphoma Large B Cell Diffuse	Associate	34806851
Multiple Myeloma	Associate	19687334, 36433728, 39234657
Neoplasms	Associate	29084986, 30104401, 33442665, 8887680
Status Asthmaticus	Inhibit	34494468