FARSA (phenylalanyl-tRNA synthetase subunit alpha)

Gene

• Entrez ID: 2193
• Gene name: Phenylalanyl-tRNA synthetase subunit alpha
• Gene symbol: FARSA
• Synonyms (NCBI Gene): CML33, FARSL, FARSLA, FRSA, PheHA, RILDBC2
• Disease Acronyms (UniProt): RILDBC2
• Chromosome: 19
• Chromosome location: 19p13.13
• Summary: Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). Th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052471	hsa-let-7a-5p	CLASH	23622248
MIRT046922	hsa-miR-221-3p	CLASH	23622248
MIRT041766	hsa-miR-484	CLASH	23622248
MIRT041106	hsa-miR-503-5p	CLASH	23622248
MIRT451408	hsa-miR-583	PAR-CLIP	23592263
MIRT451407	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT451406	hsa-miR-3125	PAR-CLIP	23592263
MIRT451405	hsa-miR-3916	PAR-CLIP	23592263
MIRT451404	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT451403	hsa-miR-4476	PAR-CLIP	23592263
MIRT451402	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451401	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT451400	hsa-miR-3153	PAR-CLIP	23592263
MIRT451399	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT451398	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT451397	hsa-miR-4492	PAR-CLIP	23592263
MIRT451396	hsa-miR-4498	PAR-CLIP	23592263
MIRT451395	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT451394	hsa-miR-762	PAR-CLIP	23592263
MIRT451393	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT451392	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT451391	hsa-miR-4488	PAR-CLIP	23592263
MIRT451390	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT451389	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT451387	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT451388	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT451386	hsa-miR-4447	PAR-CLIP	23592263
MIRT451385	hsa-miR-4472	PAR-CLIP	23592263
MIRT451384	hsa-miR-1302	PAR-CLIP	23592263
MIRT451383	hsa-miR-4298	PAR-CLIP	23592263
MIRT727686	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT727685	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT451408	hsa-miR-583	PAR-CLIP	23592263
MIRT451407	hsa-miR-552-3p	PAR-CLIP	23592263
MIRT451406	hsa-miR-3125	PAR-CLIP	23592263
MIRT451405	hsa-miR-3916	PAR-CLIP	23592263
MIRT451404	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT451403	hsa-miR-4476	PAR-CLIP	23592263
MIRT451402	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451401	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT451400	hsa-miR-3153	PAR-CLIP	23592263
MIRT451399	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT451398	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT451397	hsa-miR-4492	PAR-CLIP	23592263
MIRT451396	hsa-miR-4498	PAR-CLIP	23592263
MIRT451395	hsa-miR-5001-5p	PAR-CLIP	23592263
MIRT451394	hsa-miR-762	PAR-CLIP	23592263
MIRT451393	hsa-miR-185-3p	PAR-CLIP	23592263
MIRT451392	hsa-miR-1237-5p	PAR-CLIP	23592263
MIRT451391	hsa-miR-4488	PAR-CLIP	23592263
MIRT451390	hsa-miR-4697-5p	PAR-CLIP	23592263
MIRT451389	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT451387	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT451388	hsa-miR-92a-2-5p	PAR-CLIP	23592263
MIRT451386	hsa-miR-4447	PAR-CLIP	23592263
MIRT451385	hsa-miR-4472	PAR-CLIP	23592263
MIRT451384	hsa-miR-1302	PAR-CLIP	23592263
MIRT451383	hsa-miR-4298	PAR-CLIP	23592263
MIRT989459	hsa-miR-1910	CLIP-seq
MIRT989460	hsa-miR-300	CLIP-seq
MIRT989461	hsa-miR-381	CLIP-seq
MIRT989462	hsa-miR-3909	CLIP-seq
MIRT989463	hsa-miR-3974	CLIP-seq
MIRT989464	hsa-miR-4292	CLIP-seq
MIRT989465	hsa-miR-4308	CLIP-seq
MIRT989466	hsa-miR-4320	CLIP-seq
MIRT989467	hsa-miR-624	CLIP-seq
MIRT1993235	hsa-miR-1252	CLIP-seq
MIRT1993236	hsa-miR-1266	CLIP-seq
MIRT1993237	hsa-miR-128	CLIP-seq
MIRT1993238	hsa-miR-15a	CLIP-seq
MIRT1993239	hsa-miR-15b	CLIP-seq
MIRT1993240	hsa-miR-16	CLIP-seq
MIRT1993241	hsa-miR-195	CLIP-seq
MIRT1993242	hsa-miR-214	CLIP-seq
MIRT1993243	hsa-miR-27a	CLIP-seq
MIRT1993244	hsa-miR-27b	CLIP-seq
MIRT1993245	hsa-miR-3127-5p	CLIP-seq
MIRT1993246	hsa-miR-3136-3p	CLIP-seq
MIRT1993247	hsa-miR-329	CLIP-seq
MIRT1993248	hsa-miR-3605-5p	CLIP-seq
MIRT1993249	hsa-miR-3619-5p	CLIP-seq
MIRT1993250	hsa-miR-362-3p	CLIP-seq
MIRT1993251	hsa-miR-3661	CLIP-seq
MIRT1993252	hsa-miR-3918	CLIP-seq
MIRT1993253	hsa-miR-411	CLIP-seq
MIRT1993254	hsa-miR-424	CLIP-seq
MIRT1993255	hsa-miR-4279	CLIP-seq
MIRT1993256	hsa-miR-4436a	CLIP-seq
MIRT1993257	hsa-miR-4518	CLIP-seq
MIRT1993258	hsa-miR-4700-3p	CLIP-seq
MIRT1993259	hsa-miR-497	CLIP-seq
MIRT1993260	hsa-miR-518a-5p	CLIP-seq
MIRT1993261	hsa-miR-527	CLIP-seq
MIRT1993262	hsa-miR-542-5p	CLIP-seq
MIRT1993263	hsa-miR-631	CLIP-seq
MIRT1993264	hsa-miR-663b	CLIP-seq
MIRT1993265	hsa-miR-676	CLIP-seq
MIRT1993266	hsa-miR-761	CLIP-seq
MIRT1993267	hsa-miR-936	CLIP-seq
MIRT1993236	hsa-miR-1266	CLIP-seq
MIRT1993237	hsa-miR-128	CLIP-seq
MIRT1993238	hsa-miR-15a	CLIP-seq
MIRT1993239	hsa-miR-15b	CLIP-seq
MIRT1993240	hsa-miR-16	CLIP-seq
MIRT1993241	hsa-miR-195	CLIP-seq
MIRT1993242	hsa-miR-214	CLIP-seq
MIRT1993243	hsa-miR-27a	CLIP-seq
MIRT1993244	hsa-miR-27b	CLIP-seq
MIRT1993245	hsa-miR-3127-5p	CLIP-seq
MIRT1993246	hsa-miR-3136-3p	CLIP-seq
MIRT1993247	hsa-miR-329	CLIP-seq
MIRT1993248	hsa-miR-3605-5p	CLIP-seq
MIRT1993249	hsa-miR-3619-5p	CLIP-seq
MIRT1993250	hsa-miR-362-3p	CLIP-seq
MIRT1993251	hsa-miR-3661	CLIP-seq
MIRT2227110	hsa-miR-3677-5p	CLIP-seq
MIRT1993252	hsa-miR-3918	CLIP-seq
MIRT1993253	hsa-miR-411	CLIP-seq
MIRT1993254	hsa-miR-424	CLIP-seq
MIRT1993255	hsa-miR-4279	CLIP-seq
MIRT1993256	hsa-miR-4436a	CLIP-seq
MIRT1993257	hsa-miR-4518	CLIP-seq
MIRT2227111	hsa-miR-4641	CLIP-seq
MIRT1993258	hsa-miR-4700-3p	CLIP-seq
MIRT1993259	hsa-miR-497	CLIP-seq
MIRT1993262	hsa-miR-542-5p	CLIP-seq
MIRT1993263	hsa-miR-631	CLIP-seq
MIRT1993264	hsa-miR-663b	CLIP-seq
MIRT1993265	hsa-miR-676	CLIP-seq
MIRT1993266	hsa-miR-761	CLIP-seq
MIRT1993267	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IBA	21873635
GO:0004826	Function	Phenylalanine-tRNA ligase activity	IDA	20223217
GO:0005515	Function	Protein binding	IPI	20223217, 21163940, 24965446, 25416956, 28514442, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006418	Process	TRNA aminoacylation for protein translation	TAS
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IBA	21873635
GO:0006432	Process	Phenylalanyl-tRNA aminoacylation	IDA	20223217
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IBA	21873635
GO:0009328	Component	Phenylalanine-tRNA ligase complex	IDA	20223217
GO:0016020	Component	Membrane	HDA	19946888
GO:0051290	Process	Protein heterotetramerization	IDA	20223217

Other IDs

• MIM: 602918
• HGNC: 3592
• e!Ensembl: ENSG00000179115

Protein

• UniProt ID: Q9Y285
• Protein name: Phenylalanine--tRNA ligase alpha subunit (EC 6.1.1.20) (CML33) (Phenylalanyl-tRNA synthetase alpha subunit) (PheRS)
• PDB: 3L4G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18552	PheRS_DBD1	2 → 61	PheRS DNA binding domain 1	Domain
  PF18553	PheRS_DBD3	75 → 132	PheRS DNA binding domain 3	Domain
  PF18554	PheRS_DBD2	134 → 166	PheRS DNA binding domain 2	Domain
  PF01409	tRNA-synt_2d	209 → 488	tRNA synthetases class II core domain (F)	Domain

• Sequence:

  MADGQVAELLLRRLEASDGGLDSAELAAELGMEHQAVVGAVKSLQALGEVIEAELRSTKH
  WELTAEGEEIAREGSHEARVFRSIPPEGLAQSELMRLPSGKVGFSKAMSNKWIRVDKSAA
  DGPRVFRVVDSMEDEVQRRLQLVRGGQAEKLGEKERSELRKRKLLAEVTLKTYWVSKGSA
  FSTSISKQETELSPEMISSGSWRDRPFKPYNFLAHGVLPDSGHLHPLLKVRSQFRQIFLE
  MGFTEMPTDNFIESSFWNFDALFQPQQHPARDQHDTFFLRDPAEALQLPMDYVQRVKRTH
  SQGGYGSQGYKYNWKLDEARKNLLRTHTTSASARALYRLAQKKPFTPVKYFSIDRVFRNE
  TLDATHLAEFHQIEGVVADHGLTLGHLMGVLREFFTKLGITQLRFKPAYNPYTEPSMEVF
  SYHQGLKKWVEVGNSGVFRPEMLLPMGLPENVSVIAWGLSLERPTMIKYGINNIRELVGH
  KVNLQMVYDSPLCRLDAEPRPPPTQEAA

• Sequence length: 508

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Cytosolic tRNA aminoacylation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Hypercholesterolemia	Hypercholesterolemia, Familial	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255	22968135

Unknown
Disease term	Disease name	Evidence	References	Source
Rajab interstitial lung disease with brain calcifications	Rajab interstitial lung disease with brain calcifications 2			GenCC
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	35132614
Carcinoma Non Small Cell Lung	Stimulate	34119765
Facial Dysmorphism with Multiple Malformations	Associate	35132614
Failure to Thrive	Associate	35918773
Immunoglobulin G4 Related Disease	Associate	35132614
Immunologic Deficiency Syndromes	Inhibit	35132614
Liver Failure	Associate	35918773
Lung Diseases Interstitial	Associate	35132614
Multiple Organ Failure	Associate	35918773
Neoplasm Metastasis	Stimulate	34119765
Neoplasms	Associate	29722168, 34119765
Nervous System Diseases	Associate	35918773
Respiratory Insufficiency	Associate	35918773
Respiratory Tract Infections	Associate	35918773