FTCD (formimidoyltransferase cyclodeaminase)

Gene

• Entrez ID: 10841
• Gene name: Formimidoyltransferase cyclodeaminase
• Gene symbol: FTCD
• Synonyms (NCBI Gene): LCHC1
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149266909	A>G,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant, missense variant
rs200283734	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs398124234	->C	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Frameshift variant, coding sequence variant, non coding transcript variant
rs777099958	->C	Conflicting-interpretations-of-pathogenicity	Frameshift variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018835	hsa-miR-335-5p	Microarray	18185580
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT715545	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT715544	hsa-miR-668-3p	HITS-CLIP	19536157
MIRT715543	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT715542	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT715541	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT715540	hsa-miR-1976	HITS-CLIP	19536157
MIRT715539	hsa-miR-7155-5p	HITS-CLIP	19536157
MIRT715538	hsa-miR-193b-5p	HITS-CLIP	19536157
MIRT715537	hsa-miR-3170	HITS-CLIP	19536157
MIRT715536	hsa-miR-6855-5p	HITS-CLIP	19536157
MIRT1005633	hsa-miR-1913	CLIP-seq
MIRT1005634	hsa-miR-3194-3p	CLIP-seq
MIRT1005635	hsa-miR-324-3p	CLIP-seq
MIRT1005636	hsa-miR-326	CLIP-seq
MIRT1005637	hsa-miR-330-5p	CLIP-seq
MIRT1005638	hsa-miR-4290	CLIP-seq
MIRT1005639	hsa-miR-4450	CLIP-seq
MIRT1005640	hsa-miR-4649-5p	CLIP-seq
MIRT1005641	hsa-miR-4667-5p	CLIP-seq
MIRT1005642	hsa-miR-4700-5p	CLIP-seq
MIRT1005643	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	14697341
GO:0000139	Component	Golgi membrane	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005542	Function	Folic acid binding	IEA
GO:0005737	Component	Cytoplasm	TAS	10029623
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	14697341
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006548	Process	Histidine catabolic process	TAS
GO:0006760	Process	Folic acid-containing compound metabolic process	TAS	10029623
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008017	Function	Microtubule binding	IDA	14697341
GO:0008017	Function	Microtubule binding	ISS
GO:0019556	Process	Histidine catabolic process to glutamate and formamide	IEA
GO:0019557	Process	Histidine catabolic process to glutamate and formate	IEA
GO:0030407	Function	Formimidoyltransferase activity	ISS
GO:0030409	Function	Glutamate formimidoyltransferase activity	IEA
GO:0030412	Function	Formimidoyltetrahydrofolate cyclodeaminase activity	ISS
GO:0030868	Component	Smooth endoplasmic reticulum membrane	IDA	14697341
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 606806
• HGNC: 3974
• e!Ensembl: ENSG00000160282

Protein

• UniProt ID: O95954
• Protein name: Formimidoyltransferase-cyclodeaminase (Formiminotransferase-cyclodeaminase) (FTCD) (LCHC1) [Includes: Glutamate formimidoyltransferase (EC 2.1.2.5) (Glutamate formiminotransferase) (Glutamate formyltransferase); Formimidoyltetrahydrofolate cyclodeaminase
• Protein function: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. ; Binds and promotes bundling of vimentin fila
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07837	FTCD_N	4 → 179	Formiminotransferase domain, N-terminal subdomain	Domain
  PF02971	FTCD	181 → 324	Formiminotransferase domain	Domain
  PF04961	FTCD_C	339 → 520	Formiminotransferase-cyclodeaminase	Family

• Sequence:

  MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVE
  GALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELD
  VPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARK
  FLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLD
  FEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRI
  RLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVA
  AAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYL
  EAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDL
  QVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQ
  E

• Sequence length: 541

Pathways

KEGG:

Histidine metabolism
One carbon pool by folate
Metabolic pathways

Reactome:

Histidine catabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Burkitt`s lymphoma	Burkitt Lymphoma, Burkitt Leukemia	rs28933407, rs121918683, rs121918684	23143597
Glutamate formiminotransferase deficiency	Glutamate formiminotransferase deficiency	rs398124234, rs149266909, rs374724805, rs8133955, rs775788856, rs140217223	12815595, 29178637, 25689098, 26633545
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475	31120506
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

Unknown
Disease term	Disease name	Evidence	References	Source
Mastocytosis	Mastocytosis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Burkitt Lymphoma	Associate	23143597
Carcinoma Hepatocellular	Associate	17627933, 33380233, 34743578, 35286894, 37248957, 40179431
Carcinoma Hepatocellular	Inhibit	31203308
Cholangiocarcinoma	Associate	34320944
Chromosome 21 monosomy	Associate	35361402
Chromosome 21 ring	Associate	35361402
Drug Related Side Effects and Adverse Reactions	Associate	30893314
Genetic Diseases Inborn	Associate	31759545
Glutamate formiminotransferase deficiency	Associate	29178637
Hepatitis Autoimmune	Associate	29995946
Hypoxia	Associate	37481543
Neoplasms	Associate	30893314
Neoplasms	Inhibit	31203308
Ophthalmoplegia painful	Associate	38233749
Skin Diseases	Associate	30893314