SBDS (SBDS ribosome maturation factor)

Gene

• Entrez ID: 51119
• Gene name: SBDS ribosome maturation factor
• Gene symbol: SBDS
• Synonyms (NCBI Gene): CGI-97, SDO1, SDS, SWDS
• Chromosome: 7
• Chromosome location: 7q11.21
• Summary: This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113993991	TA>AG	Pathogenic	Coding sequence variant, stop gained
rs113993992	C>G	Pathogenic	Splice donor variant
rs113993993	A>C,G	Risk-factor, pathogenic	Splice donor variant
rs113993994	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs113993995	C>G	Pathogenic	Missense variant, coding sequence variant
rs113993997	C>G,T	Pathogenic	Splice donor variant
rs113993998	G>A	Pathogenic	Coding sequence variant, stop gained
rs120074160	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs201070132	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs774976459	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs779179610	TCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1554341061	->A	Likely-pathogenic	Splice donor variant
rs1584437592	A>G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016171	hsa-miR-590-3p	Sequencing	20371350
MIRT051786	hsa-let-7c-5p	CLASH	23622248
MIRT1326686	hsa-miR-103a	CLIP-seq
MIRT1326687	hsa-miR-107	CLIP-seq
MIRT1326688	hsa-miR-1183	CLIP-seq
MIRT1326689	hsa-miR-1208	CLIP-seq
MIRT1326690	hsa-miR-1271	CLIP-seq
MIRT1326691	hsa-miR-1297	CLIP-seq
MIRT1326692	hsa-miR-140-3p	CLIP-seq
MIRT1326693	hsa-miR-140-5p	CLIP-seq
MIRT1326694	hsa-miR-182	CLIP-seq
MIRT1326695	hsa-miR-183	CLIP-seq
MIRT1326696	hsa-miR-22	CLIP-seq
MIRT1326697	hsa-miR-26a	CLIP-seq
MIRT1326698	hsa-miR-26b	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT1326700	hsa-miR-335	CLIP-seq
MIRT1326701	hsa-miR-3657	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT1326706	hsa-miR-3910	CLIP-seq
MIRT1326707	hsa-miR-3922-5p	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT1326709	hsa-miR-3978	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1326711	hsa-miR-4465	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT1326713	hsa-miR-4662a-3p	CLIP-seq
MIRT1326714	hsa-miR-4666-3p	CLIP-seq
MIRT1326715	hsa-miR-4669	CLIP-seq
MIRT1326716	hsa-miR-4803	CLIP-seq
MIRT1326717	hsa-miR-488	CLIP-seq
MIRT1326718	hsa-miR-5096	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT1326720	hsa-miR-548ag	CLIP-seq
MIRT1326721	hsa-miR-548ai	CLIP-seq
MIRT1326722	hsa-miR-548m	CLIP-seq
MIRT1326723	hsa-miR-550b	CLIP-seq
MIRT1326724	hsa-miR-558	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326726	hsa-miR-579	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326729	hsa-miR-885-3p	CLIP-seq
MIRT1326730	hsa-miR-96	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326686	hsa-miR-103a	CLIP-seq
MIRT1326687	hsa-miR-107	CLIP-seq
MIRT1326688	hsa-miR-1183	CLIP-seq
MIRT1326695	hsa-miR-183	CLIP-seq
MIRT1326696	hsa-miR-22	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT1326700	hsa-miR-335	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT2097001	hsa-miR-4731-3p	CLIP-seq
MIRT2097002	hsa-miR-4801	CLIP-seq
MIRT1326717	hsa-miR-488	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326718	hsa-miR-5096	CLIP-seq
MIRT1326720	hsa-miR-548ag	CLIP-seq
MIRT1326721	hsa-miR-548ai	CLIP-seq
MIRT1326722	hsa-miR-548m	CLIP-seq
MIRT1326723	hsa-miR-550b	CLIP-seq
MIRT1326724	hsa-miR-558	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326726	hsa-miR-579	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326729	hsa-miR-885-3p	CLIP-seq
MIRT1326690	hsa-miR-1271	CLIP-seq
MIRT1326692	hsa-miR-140-3p	CLIP-seq
MIRT1326694	hsa-miR-182	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT1553227	hsa-miR-323-3p	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT2321365	hsa-miR-3667-5p	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT1326710	hsa-miR-4330	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2321367	hsa-miR-4503	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT1326728	hsa-miR-873	CLIP-seq
MIRT1326730	hsa-miR-96	CLIP-seq
MIRT1326689	hsa-miR-1208	CLIP-seq
MIRT2617601	hsa-miR-1260	CLIP-seq
MIRT2617602	hsa-miR-1260b	CLIP-seq
MIRT2617603	hsa-miR-188-3p	CLIP-seq
MIRT2617604	hsa-miR-191	CLIP-seq
MIRT2617605	hsa-miR-3156-3p	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT2617606	hsa-miR-3198	CLIP-seq
MIRT2097000	hsa-miR-3613-5p	CLIP-seq
MIRT2617607	hsa-miR-3646	CLIP-seq
MIRT1326701	hsa-miR-3657	CLIP-seq
MIRT2321365	hsa-miR-3667-5p	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT2617608	hsa-miR-3671	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT2617609	hsa-miR-371-3p	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT2617610	hsa-miR-378	CLIP-seq
MIRT2617611	hsa-miR-378b	CLIP-seq
MIRT2617612	hsa-miR-378c	CLIP-seq
MIRT2617613	hsa-miR-378d	CLIP-seq
MIRT2617614	hsa-miR-378e	CLIP-seq
MIRT2617615	hsa-miR-378f	CLIP-seq
MIRT2617616	hsa-miR-378h	CLIP-seq
MIRT2617617	hsa-miR-378i	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT2617618	hsa-miR-422a	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT2617619	hsa-miR-4261	CLIP-seq
MIRT2617620	hsa-miR-4307	CLIP-seq
MIRT2617621	hsa-miR-4309	CLIP-seq
MIRT2617622	hsa-miR-432	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2617623	hsa-miR-4638-3p	CLIP-seq
MIRT2617624	hsa-miR-4653-3p	CLIP-seq
MIRT1326713	hsa-miR-4662a-3p	CLIP-seq
MIRT1326715	hsa-miR-4669	CLIP-seq
MIRT1553228	hsa-miR-4725-5p	CLIP-seq
MIRT2097001	hsa-miR-4731-3p	CLIP-seq
MIRT2617625	hsa-miR-4795-3p	CLIP-seq
MIRT2097002	hsa-miR-4801	CLIP-seq
MIRT2617626	hsa-miR-494	CLIP-seq
MIRT1553229	hsa-miR-504	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT2617627	hsa-miR-562	CLIP-seq
MIRT1326725	hsa-miR-568	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq
MIRT2617628	hsa-miR-885-5p	CLIP-seq
MIRT2617601	hsa-miR-1260	CLIP-seq
MIRT2617602	hsa-miR-1260b	CLIP-seq
MIRT2617603	hsa-miR-188-3p	CLIP-seq
MIRT2617605	hsa-miR-3156-3p	CLIP-seq
MIRT1326699	hsa-miR-3159	CLIP-seq
MIRT2617606	hsa-miR-3198	CLIP-seq
MIRT1326702	hsa-miR-3668	CLIP-seq
MIRT1326703	hsa-miR-3684	CLIP-seq
MIRT1326704	hsa-miR-374a	CLIP-seq
MIRT1326705	hsa-miR-374b	CLIP-seq
MIRT2617610	hsa-miR-378	CLIP-seq
MIRT2617611	hsa-miR-378b	CLIP-seq
MIRT2617612	hsa-miR-378c	CLIP-seq
MIRT2617613	hsa-miR-378d	CLIP-seq
MIRT2617614	hsa-miR-378e	CLIP-seq
MIRT2617615	hsa-miR-378f	CLIP-seq
MIRT2617616	hsa-miR-378h	CLIP-seq
MIRT2617617	hsa-miR-378i	CLIP-seq
MIRT1326708	hsa-miR-3924	CLIP-seq
MIRT2617618	hsa-miR-422a	CLIP-seq
MIRT2321366	hsa-miR-4252	CLIP-seq
MIRT2617621	hsa-miR-4309	CLIP-seq
MIRT2617622	hsa-miR-432	CLIP-seq
MIRT1326712	hsa-miR-4496	CLIP-seq
MIRT2617623	hsa-miR-4638-3p	CLIP-seq
MIRT2617624	hsa-miR-4653-3p	CLIP-seq
MIRT2617625	hsa-miR-4795-3p	CLIP-seq
MIRT1326719	hsa-miR-548aa	CLIP-seq
MIRT1326727	hsa-miR-651	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	18324336, 19759903
GO:0001833	Process	Inner cell mass cell proliferation	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IMP	19759903
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	17475909, 17643419, 20015955, 21044950, 26871637
GO:0005634	Component	Nucleus	IDA	15860664, 18324336
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA	15860664, 17475909
GO:0005737	Component	Cytoplasm	IDA	15860664, 18324336
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IMP	17643419
GO:0007052	Process	Mitotic spindle organization	IDA	18324336
GO:0008017	Function	Microtubule binding	IDA	18324336
GO:0019843	Function	RRNA binding	IDA	17475909
GO:0030282	Process	Bone mineralization	IMP	17920346
GO:0030595	Process	Leukocyte chemotaxis	IDA	14743349
GO:0042256	Process	Mature ribosome assembly	IDA	21536732
GO:0043022	Function	Ribosome binding	IDA	21536732
GO:0048539	Process	Bone marrow development	IMP	15342903

Other IDs

• MIM: 607444
• HGNC: 19440
• e!Ensembl: ENSG00000126524

Protein

• UniProt ID: Q9Y3A5
• Protein name: Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein)
• Protein function: Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80
• PDB: 2KDO, 2L9N, 5AN9, 5ANB, 5ANC, 6QKL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01172	SBDS	14 → 101	Shwachman-Bodian-Diamond syndrome (SBDS) protein	Family
  PF09377	SBDS_C	107 → 225	SBDS protein C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed.
• Sequence:

  MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNV
  SKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCV
  NPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPV
  NEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLK
  DVEEGDEKFE

• Sequence length: 250

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia, Aplastic anemia, idiopathic	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	17478638
Aplastic anemia	Aplastic Anemia, Idiopathic aplastic anemia	rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992, rs113993994, rs113993998, rs199422298, rs199422305, rs199422273, rs199422275, rs199422276, rs199422259, rs199422279, rs199422280, rs199422281, rs199422283, rs587780100, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs730881864, rs730881857, rs730881850, rs730881839, rs142301194, rs786201745, rs764884516, rs786202490, rs768378152, rs574673404, rs767215758, rs786205135, rs762664474, rs751161742, rs373730800, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs766044684, rs876659521, rs876659592, rs113993990, rs751247865, rs1057517262, rs1057516668, rs1057516611, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1060503467, rs1064795816, rs1064793210, rs1131691842, rs772797192, rs751567476, rs780235686, rs1554562083, rs578092914, rs147035858, rs189650890, rs759232053, rs1554558613, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1178384498, rs1198614767, rs1554558449, rs1554568427, rs752858869, rs147462227, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs768849283, rs1563578540, rs1563526747, rs1563559078, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs776571416, rs200430442, rs776299562, rs1584439050, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	28297620
Mental retardation	Mild 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
Metaphyseal chondrodysplasia	Metaphyseal chondrodysplasia	rs121909500, rs121434597, rs121434598, rs121434600, rs121434602, rs199476103, rs727502774, rs1554651507, rs727502776, rs1554651446, rs727502778, rs1554651469, rs878853178, rs796065036, rs111033544, rs111033545, rs111033546, rs1562122372, rs111033543, rs111033547, rs111033549, rs111033550, rs111033551, rs111033552, rs111033548, rs111033553, rs111033554, rs111033556, rs2114276588, rs140059558, rs369083541, rs786204684, rs1554651506, rs753874439, rs1554651455, rs1085307765, rs1131691804, rs1383432106, rs1554651508, rs1340624774, rs751921616, rs551450545, rs752934195, rs549085067, rs1156413585, rs772443941, rs1554651395, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1230629953, rs1554651481, rs1554651491, rs1554651503, rs1554651532, rs1554651544, rs1554651365, rs1218494857, rs1587919129, rs1554651422, rs1554651428, rs1554651486, rs1554651489, rs1554651526, rs1554651405, rs1554651400, rs1587919165, rs1554651404, rs1554651411, rs1554651461, rs1554651471, rs1554651473, rs1554651505, rs781730798, rs1554651513, rs1554651153, rs759665242, rs1554651368, rs1554651382, rs1554651418, rs1554651413, rs1554651425, rs1554651451, rs1554651453, rs1554651462, rs1554651466, rs920074067, rs1554651499, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs769180471, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs1563907946, rs1563908212, rs1563908167, rs1582811858, rs1554651445
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587	28297620
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Shwachman-diamond syndrome	SHWACHMAN-DIAMOND SYNDROME 1, Shwachman-Diamond syndrome	rs113993991, rs113993993, rs113993992, rs113993994, rs113993997, rs113993998, rs373730800, rs368148362, rs113993990, rs1555354200, rs1555354198, rs1555354750, rs120074160, rs772797192, rs1584437592, rs1584439050	14749921, 24629175, 24388329, 12496757, 25525159, 22935661, 22934832, 24898207, 21536732, 21695142, 19148133, 15860664

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction			ClinVar
Shwachman syndrome	Shwachman syndrome		15701631, 21695142, 17475909, 12496757, 15284109, 14749921, 26081292, 29753700, 29375851, 17916435, 15769891, 23602541, 28297620, 24898207, 23351992, 22934832, 15860664, 23115272, 24629175, 25729736, 24388329, 22510201, 25844324, 15342903, 22935661	ClinVar
Specific learning disorder	Specific learning disability			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia Aplastic	Associate	17478638
Anemia Diamond Blackfan	Associate	17475909, 21963601
Aneuploidy	Associate	18324336
Bone Marrow Diseases	Associate	22371183
Bone Marrow Failure Disorders	Associate	19016724, 20658628, 34758064, 37450374
Breast Neoplasms	Associate	30792990
Congenital Bone Marrow Failure Syndromes	Associate	18324336
Immunologic Deficiency Syndromes	Associate	17478638
Leukemia	Associate	18324336
Leukemia Myeloid Acute	Associate	19759903
Lung Neoplasms	Associate	37885353
Melanoma	Associate	30792990
Mosaic variegated aneuploidy syndrome	Associate	18324336
Myelodysplastic Syndromes	Associate	22371183, 27418648
Neoplasms	Associate	19016724, 30792990, 37226705, 37885353
Neural Tube Defects	Associate	22371183
Neutropenia	Associate	19759903
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	19222471
Pyle disease	Associate	22554078
Renal Insufficiency	Associate	21963601
Shwachman Diamond Syndrome	Associate	15284109, 15769891, 15870673, 17376717, 17475909, 17478638, 18324336, 19016724, 19222471, 19438500, 19759903, 20053358, 20658628, 21695142, 21803848, 21963601, 23115272, 25844324, 25991726, 27146429, 34758064, 35887285, 35893049, 36162759, 36577524, 36835434, 37226705
Shwachman Diamond Syndrome	Inhibit	34948128
Vitamin A Deficiency	Associate	22554078