COG4 (component of oligomeric golgi complex 4)

Gene

• Entrez ID: 25839
• Gene name: Component of oligomeric golgi complex 4
• Gene symbol: COG4
• Synonyms (NCBI Gene): CDG2J, COD1, SWILS
• Disease Acronyms (UniProt): CDG2J, SWILS
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants e

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606740	G>A	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs372362031	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs376663459	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, stop gained
rs376885733	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, 5 prime UTR variant, synonymous variant, coding sequence variant
rs387907202	C>A,T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant, 5 prime UTR variant
rs387907203	A>C,G	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs533161794	G>A,C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, synonymous variant, downstream transcript variant
rs1048764460	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1064793795	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1333878137	AG>-	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1555497029	A>T	Pathogenic	Splice donor variant
rs1555573157	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1555575860	C>G,T	Pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT040817	hsa-miR-18a-3p	CLASH	23622248
MIRT039829	hsa-miR-615-3p	CLASH	23622248
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT738265	hsa-miR-1285	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT738266	hsa-miR-3187-5p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT738268	hsa-miR-4486	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT738267	hsa-miR-612	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT1967656	hsa-miR-382	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT902180	hsa-miR-3973	CLIP-seq
MIRT902181	hsa-miR-4279	CLIP-seq
MIRT902183	hsa-miR-520g	CLIP-seq
MIRT902184	hsa-miR-520h	CLIP-seq
MIRT2203390	hsa-miR-1207-5p	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT2506317	hsa-miR-1304	CLIP-seq
MIRT2203391	hsa-miR-142-3p	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2203392	hsa-miR-1909	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506319	hsa-miR-198	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT2506321	hsa-miR-31	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT2203393	hsa-miR-4255	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT2203394	hsa-miR-4453	CLIP-seq
MIRT2506331	hsa-miR-4481	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT2203395	hsa-miR-4538	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT2203396	hsa-miR-4718	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT2203397	hsa-miR-4736	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506333	hsa-miR-4745-5p	CLIP-seq
MIRT2203398	hsa-miR-4763-3p	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT2506337	hsa-miR-499a-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq
MIRT902158	hsa-miR-122	CLIP-seq
MIRT902159	hsa-miR-1224-3p	CLIP-seq
MIRT902160	hsa-miR-1260	CLIP-seq
MIRT902161	hsa-miR-1260b	CLIP-seq
MIRT902162	hsa-miR-1280	CLIP-seq
MIRT738259	hsa-miR-1587	CLIP-seq
MIRT902163	hsa-miR-188-3p	CLIP-seq
MIRT2506318	hsa-miR-1913	CLIP-seq
MIRT2506320	hsa-miR-28-5p	CLIP-seq
MIRT902172	hsa-miR-298	CLIP-seq
MIRT902164	hsa-miR-3119	CLIP-seq
MIRT2506322	hsa-miR-3139	CLIP-seq
MIRT2506323	hsa-miR-3150a-3p	CLIP-seq
MIRT902165	hsa-miR-3156-3p	CLIP-seq
MIRT2506324	hsa-miR-3175	CLIP-seq
MIRT902173	hsa-miR-3176	CLIP-seq
MIRT902174	hsa-miR-320a	CLIP-seq
MIRT902175	hsa-miR-320b	CLIP-seq
MIRT902176	hsa-miR-320c	CLIP-seq
MIRT902177	hsa-miR-320d	CLIP-seq
MIRT902178	hsa-miR-320e	CLIP-seq
MIRT2506325	hsa-miR-324-3p	CLIP-seq
MIRT2506326	hsa-miR-361-3p	CLIP-seq
MIRT2506327	hsa-miR-3615	CLIP-seq
MIRT902166	hsa-miR-3616-3p	CLIP-seq
MIRT2506328	hsa-miR-3622a-3p	CLIP-seq
MIRT2506329	hsa-miR-3622b-3p	CLIP-seq
MIRT738264	hsa-miR-378g	CLIP-seq
MIRT902179	hsa-miR-3922-3p	CLIP-seq
MIRT902167	hsa-miR-4266	CLIP-seq
MIRT2506330	hsa-miR-4313	CLIP-seq
MIRT902182	hsa-miR-4429	CLIP-seq
MIRT902168	hsa-miR-4435	CLIP-seq
MIRT902169	hsa-miR-4436b-3p	CLIP-seq
MIRT738263	hsa-miR-4492	CLIP-seq
MIRT738261	hsa-miR-4498	CLIP-seq
MIRT902170	hsa-miR-4649-3p	CLIP-seq
MIRT738262	hsa-miR-4656	CLIP-seq
MIRT738257	hsa-miR-4675	CLIP-seq
MIRT2506332	hsa-miR-4708-5p	CLIP-seq
MIRT902171	hsa-miR-4721	CLIP-seq
MIRT738258	hsa-miR-4741	CLIP-seq
MIRT2506334	hsa-miR-4763-5p	CLIP-seq
MIRT2506335	hsa-miR-4768-5p	CLIP-seq
MIRT2506336	hsa-miR-491-5p	CLIP-seq
MIRT902185	hsa-miR-591	CLIP-seq
MIRT2506338	hsa-miR-639	CLIP-seq
MIRT2506339	hsa-miR-661	CLIP-seq
MIRT2506340	hsa-miR-708	CLIP-seq
MIRT2506341	hsa-miR-720	CLIP-seq
MIRT738260	hsa-miR-762	CLIP-seq
MIRT2506342	hsa-miR-939	CLIP-seq
MIRT2506343	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	15047703, 19536132, 32296183
GO:0005829	Component	Cytosol	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA	21873635
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	19536132
GO:0007030	Process	Golgi organization	IBA	21873635
GO:0007030	Process	Golgi organization	IMP	19536132
GO:0015031	Process	Protein transport	IEA
GO:0017119	Component	Golgi transport complex	IBA	21873635
GO:0017119	Component	Golgi transport complex	IDA	15047703
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0048213	Process	Golgi vesicle prefusion complex stabilization	IBA	21873635
GO:0048213	Process	Golgi vesicle prefusion complex stabilization	IMP	19536132

Other IDs

• MIM: 606976
• HGNC: 18620
• e!Ensembl: ENSG00000103051

Protein

• UniProt ID: Q9H9E3
• Protein name: Conserved oligomeric Golgi complex subunit 4 (COG complex subunit 4) (Component of oligomeric Golgi complex 4)
• Protein function: Required for normal Golgi function (PubMed:19536132, PubMed:30290151). Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1 (PubMed:19536132). {ECO:0000269|PubMed:19536132, ECO:0000269|PubMed:302
• PDB: 3HR0
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08318	COG4	188 → 497	COG4 transport protein	Domain

• Sequence:

  MADLDSPPKLSGVQQPSEGVGGGRCSEISAELIRSLTELQELEAVYERLCGEEKVVEREL
  DALLEQQNTIESKMVTLHRMGPNLQLIEGDAKQLAGMITFTCNLAENVSSKVRQLDLAKN
  RLYQAIQRADDILDLKFCMDGVQTALRSEDYEQAAAHTHRYLCLDKSVIELSRQGKEGSM
  IDANLKLLQEAEQRLKAIVAEKFAIATKEGDLPQVERFFKIFPLLGLHEEGLRKFSEYLC
  KQVASKAEENLLMVLGTDMSDRRAAVIFADTLTLLFEGIARIVETHQPIVETYYGPGRLY
  TLIKYLQVECDRQVEKVVDKFIKQRDYHQQFRHVQNNLMRNSTTEKIEPRELDPILTEVT
  LMNARSELYLRFLKKRISSDFEVGDSMASEEVKQEHQKCLDKLLNNCLLSCTMQELIGLY
  VTMEEYFMRETVNKAVALDTYEKGQLTSSMVDDVFYIVKKCIGRALSSSSIDCLCAMINL
  ATTELESDFRDVLCNKLRMGFPATTFQDIQRGVTSAVNIMHSSLQQGKFDTKGIESTDEA
  KMSFLVTLNNVEVCSENISTLKKTLESDCTKLFSQGIGGEQAQAKFDSCLSDLAAVSNKF
  RDLLQEGLTELNSTAIKPQVQPWINSFFSVSHNIEEEEFNDYEANDPWVQQFILNLEQQM
  AEFKASLSPVIYDSLTGLMTSLVAVELEKVVLKSTFNRLGGLQFDKELRSLIAYLTTVTT
  WTIRDKFARLSQMATILNLERVTEILDYWGPNSGPLTWRLTPAEVRQVLALRIDFRSEDI
  KRLRL

• Sequence length: 785

Pathways

Reactome:

COPI-mediated anterograde transport
Intra-Golgi traffic
Retrograde transport at the Trans-Golgi-Network

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Apraxia	Apraxias, Apraxia of Phonation	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Cataract	Cataract, CATARACT 5, MULTIPLE TYPES	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Congenital disorder of glycosylation	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj, COG4-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	21185756, 19494034, 25529582, 19651599, 27604308, 11980916
Developmental delay	Global developmental delay, Gross motor development 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
Hypercholesterolemia	Hypercholesterolemia	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
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Macrocephaly	Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Microcephalic osteodysplastic dysplasia	SAUL-WILSON SYNDROME, Microcephalic osteodysplastic dysplasia, Saul-Wilson type	rs1555575860	30290151
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Seizure	Seizure, Febrile, Complex	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Metabolic Syndrome	Metabolic Syndrome			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Renal Cell	Stimulate	34539936
Congenital Disorder Of Glycosylation Type I IIX	Associate	21185756
Congenital disorder of glycosylation type II	Associate	19494034
Congenital Disorders of Glycosylation	Associate	21185756
Diabetic Nephropathies	Associate	25359423
Epiphyseal dysplasia multiple 1	Associate	21185756
Hepatolenticular Degeneration	Associate	32652690
Multiple Organ Failure	Associate	19690088
Nervous System Diseases	Associate	19690088