SLA2 (Src like adaptor 2)

Gene

• Entrez ID: 84174
• Gene name: Src like adaptor 2
• Gene symbol: SLA2
• Synonyms (NCBI Gene): C20orf156, MARS, SLAP-2, SLAP2
• Chromosome: 20
• Chromosome location: 20q11.23
• Summary: This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018729	hsa-miR-335-5p	Microarray	18185580
MIRT1351311	hsa-miR-1228	CLIP-seq
MIRT1351312	hsa-miR-1273f	CLIP-seq
MIRT1351313	hsa-miR-1276	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT1351315	hsa-miR-24	CLIP-seq
MIRT1351316	hsa-miR-31	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351318	hsa-miR-3160-3p	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT1351320	hsa-miR-342-3p	CLIP-seq
MIRT1351321	hsa-miR-3613-3p	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351326	hsa-miR-3689d	CLIP-seq
MIRT1351327	hsa-miR-371-5p	CLIP-seq
MIRT1351328	hsa-miR-371b-5p	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT1351330	hsa-miR-4284	CLIP-seq
MIRT1351331	hsa-miR-4432	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT1351335	hsa-miR-4487	CLIP-seq
MIRT1351336	hsa-miR-4534	CLIP-seq
MIRT1351337	hsa-miR-4696	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351341	hsa-miR-4802-5p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT1351343	hsa-miR-558	CLIP-seq
MIRT1351344	hsa-miR-665	CLIP-seq
MIRT2104108	hsa-miR-1226	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT2104109	hsa-miR-204	CLIP-seq
MIRT2104110	hsa-miR-211	CLIP-seq
MIRT2104111	hsa-miR-3121-5p	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT2104112	hsa-miR-3618	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT2104113	hsa-miR-3926	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT2104114	hsa-miR-4755-5p	CLIP-seq
MIRT2104115	hsa-miR-4757-5p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT2104116	hsa-miR-548c-3p	CLIP-seq
MIRT2104117	hsa-miR-548s	CLIP-seq
MIRT2104118	hsa-miR-623	CLIP-seq
MIRT2104119	hsa-miR-934	CLIP-seq
MIRT2104108	hsa-miR-1226	CLIP-seq
MIRT1351311	hsa-miR-1228	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT2328225	hsa-miR-25	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351318	hsa-miR-3160-3p	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT2328226	hsa-miR-32	CLIP-seq
MIRT2328227	hsa-miR-338-3p	CLIP-seq
MIRT1351320	hsa-miR-342-3p	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT2328228	hsa-miR-363	CLIP-seq
MIRT2328229	hsa-miR-367	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT2328230	hsa-miR-3929	CLIP-seq
MIRT2328231	hsa-miR-4325	CLIP-seq
MIRT2328232	hsa-miR-4419b	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT2328233	hsa-miR-4478	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT1351335	hsa-miR-4487	CLIP-seq
MIRT2328234	hsa-miR-4530	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT2328235	hsa-miR-508-5p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT1351343	hsa-miR-558	CLIP-seq
MIRT2328236	hsa-miR-766	CLIP-seq
MIRT2328237	hsa-miR-92a	CLIP-seq
MIRT2328238	hsa-miR-92b	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT1351311	hsa-miR-1228	CLIP-seq
MIRT1351313	hsa-miR-1276	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT1351321	hsa-miR-3613-3p	CLIP-seq
MIRT2104112	hsa-miR-3618	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT2459442	hsa-miR-3622b-5p	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351327	hsa-miR-371-5p	CLIP-seq
MIRT1351328	hsa-miR-371b-5p	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT1351331	hsa-miR-4432	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT2459443	hsa-miR-4645-5p	CLIP-seq
MIRT2459444	hsa-miR-4662a-5p	CLIP-seq
MIRT2459445	hsa-miR-4673	CLIP-seq
MIRT2459446	hsa-miR-4676-5p	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT2459447	hsa-miR-4755-3p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT2104116	hsa-miR-548c-3p	CLIP-seq
MIRT2459448	hsa-miR-575	CLIP-seq
MIRT2104119	hsa-miR-934	CLIP-seq
MIRT1351311	hsa-miR-1228	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT2623074	hsa-miR-323-5p	CLIP-seq
MIRT1351321	hsa-miR-3613-3p	CLIP-seq
MIRT2104112	hsa-miR-3618	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT2459442	hsa-miR-3622b-5p	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351327	hsa-miR-371-5p	CLIP-seq
MIRT1351328	hsa-miR-371b-5p	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT1351331	hsa-miR-4432	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT2459443	hsa-miR-4645-5p	CLIP-seq
MIRT2459444	hsa-miR-4662a-5p	CLIP-seq
MIRT2459445	hsa-miR-4673	CLIP-seq
MIRT2459446	hsa-miR-4676-5p	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT2459447	hsa-miR-4755-3p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT2104116	hsa-miR-548c-3p	CLIP-seq
MIRT2459448	hsa-miR-575	CLIP-seq
MIRT2623075	hsa-miR-876-3p	CLIP-seq
MIRT2104119	hsa-miR-934	CLIP-seq
MIRT1351311	hsa-miR-1228	CLIP-seq
MIRT1351313	hsa-miR-1276	CLIP-seq
MIRT1351314	hsa-miR-1293	CLIP-seq
MIRT1351316	hsa-miR-31	CLIP-seq
MIRT1351317	hsa-miR-3122	CLIP-seq
MIRT1351319	hsa-miR-3165	CLIP-seq
MIRT1351321	hsa-miR-3613-3p	CLIP-seq
MIRT2104112	hsa-miR-3618	CLIP-seq
MIRT1351322	hsa-miR-3622a-3p	CLIP-seq
MIRT1351323	hsa-miR-3622b-3p	CLIP-seq
MIRT1351324	hsa-miR-3689a-3p	CLIP-seq
MIRT1351325	hsa-miR-3689c	CLIP-seq
MIRT1351327	hsa-miR-371-5p	CLIP-seq
MIRT1351328	hsa-miR-371b-5p	CLIP-seq
MIRT1351329	hsa-miR-3913-5p	CLIP-seq
MIRT2104113	hsa-miR-3926	CLIP-seq
MIRT1351331	hsa-miR-4432	CLIP-seq
MIRT1351332	hsa-miR-4433	CLIP-seq
MIRT1351333	hsa-miR-4459	CLIP-seq
MIRT1351334	hsa-miR-4483	CLIP-seq
MIRT2459443	hsa-miR-4645-5p	CLIP-seq
MIRT2459444	hsa-miR-4662a-5p	CLIP-seq
MIRT2459445	hsa-miR-4673	CLIP-seq
MIRT2459446	hsa-miR-4676-5p	CLIP-seq
MIRT1351337	hsa-miR-4696	CLIP-seq
MIRT1351338	hsa-miR-4728-5p	CLIP-seq
MIRT2459447	hsa-miR-4755-3p	CLIP-seq
MIRT1351339	hsa-miR-4761-5p	CLIP-seq
MIRT1351340	hsa-miR-4768-3p	CLIP-seq
MIRT1351342	hsa-miR-544b	CLIP-seq
MIRT2104116	hsa-miR-548c-3p	CLIP-seq
MIRT2104117	hsa-miR-548s	CLIP-seq
MIRT2459448	hsa-miR-575	CLIP-seq
MIRT2104119	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11696592
GO:0005515	Function	Protein binding	IPI	11891219, 16273093, 24728074, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	TAS	11696592
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	TAS	11891219
GO:0005942	Component	Phosphatidylinositol 3-kinase complex	IBA	21873635
GO:0010008	Component	Endosome membrane	NAS	11696592
GO:0019724	Process	B cell mediated immunity	TAS	11891219
GO:0035591	Function	Signaling adaptor activity	IDA	11891219
GO:0042110	Process	T cell activation	IDA	11891219
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043551	Process	Regulation of phosphatidylinositol 3-kinase activity	IEA
GO:0046854	Process	Phosphatidylinositol phosphorylation	IBA	21873635
GO:0046935	Function	1-phosphatidylinositol-3-kinase regulator activity	IBA	21873635
GO:0047485	Function	Protein N-terminus binding	IPI	11891219
GO:0050776	Process	Regulation of immune response	NAS	11696592
GO:0050849	Process	Negative regulation of calcium-mediated signaling	IDA	11696592
GO:0050851	Process	Antigen receptor-mediated signaling pathway	TAS	11696592
GO:0050860	Process	Negative regulation of T cell receptor signaling pathway	IMP	11891219

Other IDs

• MIM: 606577
• HGNC: 17329
• e!Ensembl: ENSG00000101082

Protein

• UniProt ID: Q9H6Q3
• Protein name: Src-like-adapter 2 (Modulator of antigen receptor signaling) (MARS) (Src-like adapter protein 2) (SLAP-2)
• Protein function: Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a C
• PDB: 4M4Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00018	SH3_1	38 → 84	SH3 domain	Domain
  PF00017	SH2	94 → 176	SH2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in immune system, with highest levels in peripheral blood leukocytes. Expressed in spleen, thymus and lymph nodes. Expressed in T-cells as well as in monocytes, and at low level in B-cells. Also detected in plac
• Sequence:

  MGSLPSRRKSLPSPSLSSSVQGQGPVTMEAERSKATAVALGSFPAGGPAELSLRLGEPLT
  IVSEDGDWWTVLSEVSGREYNIPSVHVAKVSHGWLYEGLSREKAEELLLLPGNPGGAFLI
  RESQTRRGSYSLSVRLSRPASWDRIRHYRIHCLDNGWLYISPRLTFPSLQALVDHYSELA
  DDICCLLKEPCVLQRAGPLPGKDIPLPVTVQRTPLNWKELDSSLLFSEAATGEESLLSEG
  LRESLSFYISLNDEAVSLDDA

• Sequence length: 261

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Charcot-marie-tooth disease	Autosomal dominant Charcot-Marie-Tooth disease type 2U	rs137852739, rs137852737, rs118203972, rs118203974, rs267607183, rs267606878, rs121908287, rs1562648373, rs121908288, rs1368013631, rs28940291, rs28940292, rs28940293, rs28940294, rs28940295, rs28940296, rs119103261, rs119103262, rs119103263, rs119103265, rs119103266, rs119103267, rs119103268, rs80338924, rs80338932, rs80338933, rs80338934, rs104894351, rs104894345, rs120074137, rs120074138, rs120074139, rs104894075, rs104894076, rs104894077, rs28937906, rs104894078, rs104894079, rs104894080, rs121908114, rs587777608, rs758843908, rs137852972, rs137852973, rs137852975, rs121908160, rs104894714, rs104894715, rs104894706, rs104894707, rs104894708, rs119482081, rs119482083, rs119482082, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs119483085, rs113994102, rs606231157, rs606231158, rs104894519, rs104894520, rs104894521, rs104894522, rs111033171, rs137853022, rs28939712, rs121908833, rs121908834, rs786200893, rs121434402, rs121434403, rs121434404, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs267606772, rs121909078, rs121909079, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs267607194, rs587776688, rs104894617, rs104894618, rs104894620, rs104894621, rs104894622, rs104894623, rs80338763, rs104894626, rs104894627, rs28936682, rs104894625, rs267606621, rs137852665, rs137852666, rs786205089, rs137852669, rs137852643, rs137852644, rs137852646, rs199476138, rs80338732, rs104894810, rs104894811, rs104894812, rs104894814, rs104894818, rs104894819, rs104894821, rs104894822, rs104894824, rs267606672, rs28933979, rs121918070, rs121918071, rs76992529, rs59443585, rs28928910, rs60261494, rs62636505, rs121913663, rs121913583, rs121913584, rs121913585, rs121913586, rs2102257349, rs121913587, rs121913588, rs121913589, rs121913590, rs121913594, rs121913595, rs121913596, rs121913597, rs121913598, rs121913599, rs121913601, rs121913602, rs121913603, rs1558154193, rs58932704, rs57520892, rs28933091, rs28933092, rs60864230, rs57920071, rs61282106, rs61672878, rs58596362, rs28933093, rs58048078, rs121912496, rs60458016, rs121909721, rs121909723, rs121909724, rs104894159, rs104894161, rs121434563, rs267607148, rs267607149, rs387906324, rs116840818, rs116840819, rs116840815, rs116840822, rs116840821, rs137852736, rs137852738, rs80338922, rs80338925, rs80338926, rs80338929, rs80338931, rs80338936, rs80338937, rs80338921, rs267607243, rs199473690, rs199422214, rs387906738, rs606231229, rs387906902, rs387906904, rs387906905, rs1555365597, rs387906990, rs387906991, rs387907032, rs786200930, rs387907035, rs387907036, rs387907037, rs387907038, rs387907242, rs386134243, rs267607578, rs147952488, rs267607261, rs267607263, rs267607257, rs267607258, rs281865060, rs63749871, rs397514494, rs397514534, rs606231237, rs397515432, rs281865136, rs281865137, rs281865121, rs281865123, rs281865124, rs281865125, rs281865128, rs267607247, rs281865134, rs281865135, rs58982919, rs1564287793, rs387907340, rs387907341, rs397517888, rs397517889, rs57508089, rs58013325, rs56984562, rs267607646, rs58917027, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397515441, rs397515442, rs786200937, rs587776986, rs397509411, rs397509412, rs397515454, rs397515455, rs61295588, rs62636503, rs61491953, rs58332872, rs267607555, rs267607644, rs267607617, rs267607567, rs267607634, rs267607575, rs267607590, rs267607545, rs57983345, rs267607620, rs267607618, rs267607577, rs58541611, rs267607637, rs267607598, rs267607638, rs267607597, rs267607599, rs267607550, rs267607552, rs58100028, rs57629361, rs267607592, rs267607581, rs61444459, rs56793579, rs59270054, rs59040894, rs267607569, rs60652225, rs61661343, rs267607570, rs267607542, rs59026483, rs267607571, rs80356807, rs267607584, rs267607609, rs57207746, rs267607587, rs58327533, rs59332535, rs61578124, rs267607632, rs59914820, rs267607591, rs59684335, rs267607645, rs60872029, rs267607614, rs59301204, rs587777063, rs587777838, rs515726153, rs515726154, rs515726162, rs587780564, rs587777606, rs587777877, rs587777878, rs587777876, rs587777875, rs587777880, rs587777715, rs199927590, rs587781250, rs587783595, rs587783596, rs587783597, rs587783598, rs713993043, rs372000714, rs724159994, rs724159959, rs111569862, rs730882139, rs730882140, rs781140315, rs786204003, rs786204215, rs786204119, rs786204095, rs786204123, rs786205157, rs786205207, rs191346286, rs794727035, rs756928158, rs797044758, rs794728598, rs794728604, rs794728589, rs794728597, rs794728606, rs794728593, rs794728610, rs267607623, rs1553265865, rs794728613, rs794729198, rs756880678, rs797044802, rs797044803, rs796052862, rs797044845, rs797045102, rs797044941, rs797044913, rs797044901, rs797044918, rs797045177, rs797045039, rs863224069, rs863224074, rs777604559, rs782490558, rs782190413, rs863224842, rs863224449, rs863224520, rs863224454, rs863224781, rs776221160, rs863224516, rs863224472, rs863224613, rs779696968, rs863224471, rs863224969, rs863224970, rs863224967, rs863224968, rs863225025, rs371856018, rs770546306, rs377357931, rs863225022, rs863225023, rs745663149, rs863225029, rs863225028, rs863225027, rs754521978, rs863224971, rs863224974, rs863224972, rs863224973, rs139643362, rs746581714, rs780594709, rs143473232, rs863225122, rs863225123, rs863225124, rs756614404, rs782726390, rs864309500, rs864309501, rs864309502, rs864309503, rs864309504, rs864309526, rs864309525, rs864309709, rs864309705, rs864622480, rs864622732, rs864622664, rs370115218, rs864622663, rs770272088, rs864622501, rs864622273, rs864622678, rs864622180, rs864622215, rs876657411, rs876657412, rs749850181, rs876661208, rs145226920, rs775019409, rs876661252, rs876661269, rs28933090, rs878855234, rs878855092, rs138226428, rs757563721, rs1057519023, rs879253751, rs879253752, rs1057519024, rs765591205, rs879253755, rs879253777, rs879253861, rs763492075, rs879253863, rs879253859, rs879253869, rs879253858, rs879253957, rs879254011, rs879253939, rs879253932, rs879254081, rs879254054, rs879254109, rs760730366, rs879253926, rs747768373, rs879254290, rs879253927, rs770501034, rs201060167, rs368775789, rs879254085, rs879253881, rs757725348, rs879253954, rs121909093, rs879254086, rs773009397, rs879253919, rs879254047, rs879254012, rs879253935, rs879254096, rs756000896, rs879253946, rs879254098, rs879253909, rs879254099, rs886037934, rs764717219, rs886039361, rs886039755, rs886041051, rs886041386, rs886041200, rs886043109, rs886043774, rs766160589, rs772320287, rs753207473, rs876661155, rs762730861, rs749890533, rs1057517987, rs1057518021, rs774799167, rs267607087, rs1057517942, rs1057518083, rs773690764, rs1057518961, rs80338930, rs375401970, rs104894624, rs1057520778, rs1060501918, rs879254210, rs1060501925, rs1060501920, rs1060501915, rs1060502215, rs1060502210, rs1060502214, rs1060502211, rs1060503423, rs1060503418, rs1060503420, rs1553259651, rs1060502838, rs538412810, rs1060500979, rs1060502839, rs1060503021, rs1060500978, rs1060503092, rs759312530, rs756461496, rs749558026, rs1060499999, rs1555057316, rs1060500001, rs778377449, rs1060501904, rs781347519, rs906563423, rs1060501002, rs1060500998, rs1555937150, rs1060501004, rs1060501000, rs1064794316, rs1064795818, rs886044113, rs749361266, rs750529207, rs776005417, rs770043095, rs1064796370, rs1064795077, rs1064793771, rs747912710, rs1064795696, rs751035912, rs1064796765, rs1064795664, rs1064793101, rs1064796495, rs1064794244, rs60290646, rs1064797314, rs1085307888, rs749320057, rs772823083, rs1131691980, rs1131691852, rs1131691657, rs1131691322, rs200435950, rs1395068713, rs1553765316, rs1555938796, rs1553265433, rs780302064, rs515726215, rs1247055716, rs1554614680, rs1553259697, rs1429859627, rs764928653, rs1555937009, rs1556300610, rs1556300621, rs572010627, rs759785462, rs1554122541, rs745790694, rs1422978230, rs771606350, rs1555800610, rs1555937020, rs1555937122, rs1555937197, rs1555937233, rs1555937270, rs759844257, rs1458700065, rs1553259663, rs765231758, rs1554122847, rs1323153568, rs773598203, rs1555937180, rs1553141686, rs1553142436, rs1553146559, rs778937659, rs1553261891, rs1553265165, rs1553265660, rs267607557, rs1553259648, rs1553265455, rs1553266024, rs267607588, rs1553259649, rs1553259703, rs1553259511, rs1553259662, rs1463859150, rs1198337036, rs1554121691, rs1064795123, rs1554338260, rs150110356, rs1554337974, rs747659617, rs1554548334, rs1554763017, rs1221804567, rs556827873, rs1554762671, rs760386662, rs1554982914, rs1327664377, rs1555373599, rs1555715869, rs1555936999, rs1555937084, rs1555937135, rs1555937194, rs1555937218, rs1555937015, rs1555937223, rs1553851490, rs753287764, rs774294963, rs991227431, rs1553174566, rs1553265755, rs763937206, rs1555937143, rs1553264668, rs57730570, rs1555381416, rs1555937168, rs113055360, rs1202430946, rs1266361856, rs530391015, rs1553143890, rs1553146551, rs1553142428, rs1064793170, rs1553144086, rs1553261855, rs1553261982, rs1553264593, rs747711259, rs1553143165, rs1553265328, rs1553265342, rs1553265647, rs1553265760, rs1553259566, rs1553259643, rs1407955132, rs1553259683, rs1553259691, rs1553265606, rs1553265924, rs1553259790, rs1222150652, rs773554464, rs1554121665, rs1554122560, rs1554120331, rs1554300952, rs1554303800, rs557327165, rs1554338262, rs1554338641, rs757417962, rs1554754342, rs1554547986, rs1345228128, rs1554753670, rs1554763035, rs779654686, rs1289139464, rs1555060614, rs1555061026, rs1358449243, rs1555223595, rs1555540896, rs1426969421, rs1555568475, rs1301129751, rs1555936989, rs1555937082, rs1241595912, rs1554120215, rs1553190285, rs1553192091, rs1553192086, rs1554107200, rs1553259707, rs1555060024, rs1555542415, rs1385904344, rs104894598, rs1553265736, rs1565929090, rs1000091588, rs1557537223, rs1557522794, rs1557524703, rs1340894696, rs1558133157, rs1017715903, rs1558115754, rs1558115970, rs267607561, rs1558154644, rs1557522849, rs1557525153, rs1557539119, rs1228406418, rs1558133435, rs1558153994, rs1558154754, rs376054085, rs1557525005, rs1557537346, rs1558154010, rs761972717, rs1561764735, rs1561765311, rs763949764, rs766728475, rs1561764925, rs1561770798, rs375431837, rs751448371, rs1270869520, rs770111639, rs751292488, rs1565115957, rs761035569, rs1183978180, rs750712213, rs1554309093, rs746455518, rs1564872328, rs752649372, rs1393673267, rs1565351898, rs749012928, rs866662905, rs1567704791, rs752192677, rs774667470, rs1564923441, rs746903992, rs1569215025, rs1569215351, rs771022595, rs1567019064, rs574861276, rs1569215061, rs1567604571, rs1569215346, rs1568710514, rs1569214985, rs1555937166, rs1564287871, rs1557525000, rs1558154149, rs1567698872, rs757937208, rs1568704829, rs138199394, rs1565869918, rs1565942358, rs1566778676, rs1563518388, rs1563518390, rs1564557037, rs1559961997, rs1559963660, rs1561764569, rs762729182, rs199615251, rs1476856429, rs1567704621, rs763758904, rs1569215443, rs1565342506, rs1571818248, rs140992482, rs1566439723, rs1182353109, rs1561770179, rs1569512576, rs869125101, rs1568708792, rs912928648, rs267607629, rs1572364243, rs1569816285, rs863224068, rs1569829894, rs1569830013, rs1569842143, rs1440006845, rs1569842714, rs1569843694, rs755065651, rs1553143852, rs1569854012, rs1569854342, rs1569868729, rs1569871830, rs375937289, rs1569889919, rs1485714154, rs1571695851, rs764992664, rs756981419, rs764816792, rs1571817146, rs1571817154, rs1571817911, rs1571817966, rs1571818312, rs1571818632, rs1456458087, rs1571818800, rs1571818819, rs1468741050, rs1571819182, rs573007540, rs1571819890, rs1571819906, rs201720099, rs1571819946, rs1571819964, rs1571819975, rs1571820143, rs1180998665, rs1571820186, rs1427063795, rs121909080, rs1580682390, rs1028404937, rs1580889866, rs147895061, rs1174949678, rs757797985, rs1580900758, rs1580901350, rs775740308, rs776090013, rs1197741113, rs1191997383, rs1554337369, rs1301948344, rs1583964560, rs1240900244, rs1583966508, rs778547659, rs1586795216, rs1586803063, rs1586803273, rs1443963090, rs1586804849, rs770658701, rs1586807387, rs1588143215, rs1589080524, rs1303837541, rs199839840, rs1590968942, rs1032796987, rs1595599240, rs1595600898, rs1555408333, rs1595163736, rs1595163851, rs1595164091, rs1594986869, rs1595430425, rs1597597534, rs1555564040, rs1597597678, rs1597597900, rs1597607532, rs11545341, rs1597608057, rs1597608086, rs1597608203, rs1597635540, rs1269225724, rs1599651549, rs1210729449, rs757771239, rs144183238, rs1599656136, rs768074428, rs753857146, rs1599662837, rs1602348530, rs1602348610, rs1602348650, rs1602348658, rs104894817, rs863224612, rs1602348786, rs1602348794, rs1602348801, rs1602348804, rs1602348820, rs1602348897, rs1602348907, rs1602348917, rs1602348981, rs876661143, rs1602349017, rs1602349021, rs1602349066, rs1602349087, rs1602349095, rs1602349112, rs1602349131, rs1602349137, rs1602349248, rs1602349264, rs1602349293, rs1602349302, rs1602349369, rs1602349383, rs1602349451, rs1602349535, rs1602349572, rs1602349603, rs1602349628, rs1602349655, rs1555937259, rs1602349716, rs1602349730, rs1064795540, rs1602349940, rs1590970875, rs1569834500, rs1569861708, rs1571685736, rs748672380, rs1232901259, rs1571818339, rs1571820401, rs143956557, rs1370011538, rs1597607514, rs1597608225, rs1597633171, rs1580917130, rs1569816194, rs1569834720, rs1569842458, rs1569842483, rs764374251, rs1569865516, rs1569882539, rs1572331707, rs1572332235, rs1572358860, rs1572359991, rs59564495, rs1572362885, rs1572363397, rs1448275854, rs1572366412, rs1572366593, rs1572367812, rs1571820100, rs1279417718, rs1580901363, rs1488999396, rs1584034430, rs1174933176, rs1586803187, rs1417699318, rs1588132672, rs775965001, rs1315010600, rs1588144707, rs1590881633, rs1590974596, rs1590997023, rs1592387932, rs1597435337, rs1597435790, rs1597446183, rs1597448762, rs1597597527, rs756689732, rs1599656507, rs1599662669, rs1555938741, rs1602496057, rs1602348726, rs1602349029, rs1602349341, rs1602350012, rs1572359505, rs113610699, rs1365042239, rs1580891465, rs1586446057, rs1580900150, rs1595597572, rs1590971080, rs776757548, rs1171462240, rs1590974546, rs1572359848, rs267607622, rs1580917136, rs1588143112, rs1599656851, rs1602485728, rs145670786, rs1602499659, rs1586807529, rs1599651726, rs2047850664, rs1588216753, rs1569842296, rs1580900473, rs1580907885, rs1583695322, rs936681187, rs1589439508, rs1590076969, rs1595597963, rs1595608413, rs373682811, rs964195568, rs1602510200, rs1602510214, rs863225270, rs1602961831, rs769429967, rs1586128143, rs1562648414, rs1228223508, rs758183257, rs1009209509, rs146342432, rs1580900970, rs1572366216, rs1190163112, rs1599652316, rs1580889913, rs1639043704, rs1639045345, rs1060501921, rs866604005, rs1639197832, rs201165591, rs1649726768, rs1651352665, rs61235244, rs1651736894, rs1670264356, rs1670288801, rs1670288858, rs121909081, rs201692212, rs1714805406, rs1714910248, rs1754097044, rs1319576439, rs1754425732, rs769986219, rs1778167481, rs1855957969, rs766951637, rs150989205, rs747130246, rs1836370529, rs1863944217, rs1413469900, rs201676628, rs1948089932, rs2047931446, rs1906290133, rs1909248652, rs2073510805, rs2079456028, rs1262031967, rs2092542190, rs2092543211, rs1602349045, rs757808220, rs2092546039, rs1639048523, rs267607640, rs1651598289, rs866895236, rs1950619177, rs1586407193, rs1011200048, rs758718584, rs145183196, rs1960348987, rs2079511684, rs1670263519, rs139052887
Pulmonary alveolar proteinosis	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	rs756021768, rs1553549333, rs758523839
Spastic paraplegia	Autosomal recessive spastic paraplegia type 70	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464

Unknown
Disease term	Disease name	Evidence	References	Source
Carcinoma	Carcinoma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Squamous Cell Carcinoma of Head and Neck	Associate	37688682