PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)

Gene

• Entrez ID: 5351
• Gene name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
• Gene symbol: PLOD1
• Synonyms (NCBI Gene): EDS6, EDSKCL1, LH, LH1, LLH, PLOD
• Chromosome: 1
• Chromosome location: 1p36.22
• Summary: Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysy

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs112460511	G>C,T	Likely-pathogenic	Splice acceptor variant
rs121913550	C>T	Pathogenic	Stop gained, coding sequence variant
rs121913551	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121913552	C>G	Pathogenic	Stop gained, coding sequence variant
rs121913553	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121913554	C>T	Pathogenic	Stop gained, coding sequence variant
rs138490756	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign	Missense variant, coding sequence variant
rs138698098	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs140758113	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142710681	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149425237	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377406897	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs557317492	C>T	Uncertain-significance, likely-benign, likely-pathogenic	Coding sequence variant, missense variant
rs565513365	A>C,G	Pathogenic	Splice acceptor variant
rs745409628	ACCGCAGGCTGGAGACCAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs763409574	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs771186398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs797044446	GAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044447	A>-	Pathogenic	Splice acceptor variant
rs797044448	G>A	Pathogenic	Splice donor variant
rs886042976	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043926	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043927	T>C	Pathogenic	Splice donor variant
rs1057518879	G>A	Pathogenic	Stop gained, coding sequence variant
rs1224538282	C>T	Pathogenic	Stop gained, coding sequence variant
rs1389548210	G>A,C	Pathogenic	Splice donor variant
rs1401035675	A>G	Likely-pathogenic	Splice acceptor variant
rs1433428588	C>T	Pathogenic	Coding sequence variant, stop gained
rs1439043436	C>T	Pathogenic	Coding sequence variant, stop gained
rs1471557079	->CAGCGGCTCCTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1553134578	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553137486	A>G	Likely-pathogenic	Splice acceptor variant
rs1557500194	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569713366	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569724692	->C	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022239	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024504	hsa-miR-215-5p	Microarray	19074876
MIRT026202	hsa-miR-192-5p	Microarray	19074876
MIRT052618	hsa-let-7a-5p	CLASH	23622248
MIRT046301	hsa-miR-23b-3p	CLASH	23622248
MIRT045528	hsa-miR-149-5p	CLASH	23622248
MIRT041701	hsa-miR-484	CLASH	23622248
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1242999	hsa-miR-1257	CLIP-seq
MIRT1243000	hsa-miR-1283	CLIP-seq
MIRT1243001	hsa-miR-1289	CLIP-seq
MIRT1243002	hsa-miR-1324	CLIP-seq
MIRT1243003	hsa-miR-135a	CLIP-seq
MIRT1243004	hsa-miR-135b	CLIP-seq
MIRT1243005	hsa-miR-150	CLIP-seq
MIRT1243006	hsa-miR-1912	CLIP-seq
MIRT1243007	hsa-miR-2117	CLIP-seq
MIRT1243008	hsa-miR-3120-5p	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT1243010	hsa-miR-3198	CLIP-seq
MIRT1243011	hsa-miR-326	CLIP-seq
MIRT1243012	hsa-miR-330-3p	CLIP-seq
MIRT1243013	hsa-miR-330-5p	CLIP-seq
MIRT1243014	hsa-miR-3609	CLIP-seq
MIRT1243015	hsa-miR-3925-3p	CLIP-seq
MIRT1243016	hsa-miR-4294	CLIP-seq
MIRT1243017	hsa-miR-4309	CLIP-seq
MIRT1243018	hsa-miR-4652-5p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243020	hsa-miR-4713-5p	CLIP-seq
MIRT1243021	hsa-miR-516b	CLIP-seq
MIRT1243022	hsa-miR-520d-5p	CLIP-seq
MIRT1243023	hsa-miR-524-5p	CLIP-seq
MIRT1243024	hsa-miR-532-3p	CLIP-seq
MIRT1243025	hsa-miR-548ah	CLIP-seq
MIRT1243026	hsa-miR-548n	CLIP-seq
MIRT1243027	hsa-miR-548t	CLIP-seq
MIRT1243028	hsa-miR-626	CLIP-seq
MIRT1243029	hsa-miR-766	CLIP-seq
MIRT2071807	hsa-miR-3612	CLIP-seq
MIRT2071808	hsa-miR-3652	CLIP-seq
MIRT2071809	hsa-miR-378	CLIP-seq
MIRT2071810	hsa-miR-378b	CLIP-seq
MIRT2071811	hsa-miR-378c	CLIP-seq
MIRT2071812	hsa-miR-378d	CLIP-seq
MIRT2071813	hsa-miR-378e	CLIP-seq
MIRT2071814	hsa-miR-378f	CLIP-seq
MIRT2071815	hsa-miR-378h	CLIP-seq
MIRT2071816	hsa-miR-378i	CLIP-seq
MIRT2071817	hsa-miR-422a	CLIP-seq
MIRT2071818	hsa-miR-4292	CLIP-seq
MIRT2071819	hsa-miR-4308	CLIP-seq
MIRT2071820	hsa-miR-4430	CLIP-seq
MIRT2071821	hsa-miR-4443	CLIP-seq
MIRT2071822	hsa-miR-4802-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT2071824	hsa-miR-650	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT2298953	hsa-miR-198	CLIP-seq
MIRT2298954	hsa-miR-3591-3p	CLIP-seq
MIRT1243015	hsa-miR-3925-3p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243029	hsa-miR-766	CLIP-seq
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT2595760	hsa-miR-4286	CLIP-seq
MIRT2595761	hsa-miR-4742-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT1242998	hsa-miR-1229	CLIP-seq
MIRT1243001	hsa-miR-1289	CLIP-seq
MIRT1243003	hsa-miR-135a	CLIP-seq
MIRT1243004	hsa-miR-135b	CLIP-seq
MIRT1243005	hsa-miR-150	CLIP-seq
MIRT2298953	hsa-miR-198	CLIP-seq
MIRT1243007	hsa-miR-2117	CLIP-seq
MIRT1243008	hsa-miR-3120-5p	CLIP-seq
MIRT2688136	hsa-miR-3176	CLIP-seq
MIRT1243009	hsa-miR-3182	CLIP-seq
MIRT2688137	hsa-miR-3187-3p	CLIP-seq
MIRT1243010	hsa-miR-3198	CLIP-seq
MIRT1243011	hsa-miR-326	CLIP-seq
MIRT1243013	hsa-miR-330-5p	CLIP-seq
MIRT2298954	hsa-miR-3591-3p	CLIP-seq
MIRT2688138	hsa-miR-3922-3p	CLIP-seq
MIRT2595760	hsa-miR-4286	CLIP-seq
MIRT1243016	hsa-miR-4294	CLIP-seq
MIRT1243017	hsa-miR-4309	CLIP-seq
MIRT2688139	hsa-miR-4492	CLIP-seq
MIRT2688140	hsa-miR-4498	CLIP-seq
MIRT2688141	hsa-miR-4505	CLIP-seq
MIRT2688142	hsa-miR-4529-5p	CLIP-seq
MIRT1243019	hsa-miR-4685-5p	CLIP-seq
MIRT1243020	hsa-miR-4713-5p	CLIP-seq
MIRT2595761	hsa-miR-4742-5p	CLIP-seq
MIRT2071823	hsa-miR-483-3p	CLIP-seq
MIRT1243021	hsa-miR-516b	CLIP-seq
MIRT1243024	hsa-miR-532-3p	CLIP-seq
MIRT2071825	hsa-miR-668	CLIP-seq
MIRT2688143	hsa-miR-762	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PITX2	Unknown	21837767

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEP	15174142
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	26496610, 28514442
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006493	Process	Protein O-linked glycosylation	IDA	10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IBA	21873635
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IDA	9724729, 10934207
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	IMP	8621606
GO:0008475	Function	Procollagen-lysine 5-dioxygenase activity	ISS	9582318
GO:0008544	Process	Epidermis development	IMP	8449506
GO:0017185	Process	Peptidyl-lysine hydroxylation	IBA	21873635
GO:0017185	Process	Peptidyl-lysine hydroxylation	IDA	8621606, 9724729, 10934207
GO:0017185	Process	Peptidyl-lysine hydroxylation	ISS	9582318
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0030867	Component	Rough endoplasmic reticulum membrane	IEA
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0033823	Function	Procollagen glucosyltransferase activity	IDA	10934207
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1902494	Component	Catalytic complex	IEA

Other IDs

• MIM: 153454
• HGNC: 9081
• e!Ensembl: ENSG00000083444

Protein

• UniProt ID: Q02809
• Protein name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (EC 1.14.11.4) (Lysyl hydroxylase 1) (LH1)
• Protein function: Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (By similarity). Forms hydroxylysine residues
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03171	2OG-FeII_Oxy	637 → 727	2OG-Fe(II) oxygenase superfamily	Domain

• Sequence:

  MRPLLLLALLGWLLLAEAKGDAKPEDNLLVLTVATKETEGFRRFKRSAQFFNYKIQALGL
  GEDWNVEKGTSAGGGQKVRLLKKALEKHADKEDLVILFADSYDVLFASGPRELLKKFRQA
  RSQVVFSAEELIYPDRRLETKYPVVSDGKRFLGSGGFIGYAPNLSKLVAEWEGQDSDSDQ
  LFYTKIFLDPEKREQINITLDHRCRIFQNLDGALDEVVLKFEMGHVRARNLAYDTLPVLI
  HGNGPTKLQLNYLGNYIPRFWTFETGCTVCDEGLRSLKGIGDEALPTVLVGVFIEQPTPF
  VSLFFQRLLRLHYPQKHMRLFIHNHEQHHKAQVEEFLAQHGSEYQSVKLVGPEVRMANAD
  ARNMGADLCRQDRSCTYYFSVDADVALTEPNSLRLLIQQNKNVIAPLMTRHGRLWSNFWG
  ALSADGYYARSEDYVDIVQGRRVGVWNVPYISNIYLIKGSALRGELQSSDLFHHSKLDPD
  MAFCANIRQQDVFMFLTNRHTLGHLLSLDSYRTTHLHNDLWEVFSNPEDWKEKYIHQNYT
  KALAGKLVETPCPDVYWFPIFTEVACDELVEEMEHFGQWSLGNNKDNRIQGGYENVPTID
  IHMNQIGFEREWHKFLLEYIAPMTEKLYPGYYTRAQFDLAFVVRYKPDEQPSLMPHHDAS
  TFTINIALNRVGVDYEGGGCRFLRYNCSIRAPRKGWTLMHPGRLTHYHEGLPTTRGTRYI
  AVSFVDP

• Sequence length: 727

Pathways

KEGG:

Lysine degradation
Metabolic pathways

Reactome:

Collagen biosynthesis and modifying enzymes

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aneurysm, Dissecting	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Aortic dissection	Dissection of aorta	rs1553507345
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Congenital scoliosis	Progressive congenital scoliosis	rs1597568822
Corneal dystrophy	Corneal dystrophy	rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878
Cryptorchidism	Bilateral Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Ehlers-danlos syndrome	Ehlers-Danlos syndrome type 6	rs121917817, rs121917818, rs28937869, rs764070148, rs144556766, rs121913550, rs121913552, rs80338764, rs121912933, rs786205103, rs786205104, rs121912930, rs397509369, rs113485686, rs121912914, rs397509370, rs587779443, rs869312034, rs397509371, rs121912927, rs121912915, rs121912928, rs397509372, rs397509373, rs397509374, rs121912916, rs121912917, rs121912918, rs112456072, rs387906557, rs397509375, rs121912920, rs397509376, rs121912921, rs121912922, rs121912923, rs121912924, rs121912925, rs121912926, rs1553507557, rs72656357, rs67398234, rs66820119, rs72656364, rs72656355, rs67162110, rs72659324, rs72645347, rs67828806, rs397509377, rs387906850, rs766853150, rs72656387, rs397514721, rs533071750, rs267599120, rs398122361, rs587779416, rs587779417, rs587779418, rs587779419, rs587779420, rs553203474, rs587779421, rs587779422, rs587779423, rs587779424, rs587779425, rs587779426, rs587779427, rs587779428, rs587779429, rs587779430, rs587779431, rs587779432, rs587779433, rs587779434, rs587779435, rs587779436, rs587779437, rs587779438, rs587779439, rs587779440, rs587779441, rs587779442, rs121912919, rs587779444, rs587779445, rs587779446, rs587779447, rs587779448, rs587779449, rs587779450, rs587779451, rs587779452, rs587779453, rs587779454, rs587779455, rs587779456, rs587779457, rs587779458, rs587779459, rs587779460, rs587779461, rs587779462, rs587779463, rs587779464, rs587779465, rs587779466, rs121912913, rs587779467, rs587779468, rs587779469, rs587779470, rs587779471, rs587779472, rs587779473, rs587779474, rs587779475, rs587779476, rs587779477, rs587779478, rs587779479, rs587779480, rs587779481, rs587779482, rs587779483, rs587779484, rs587779485, rs587779486, rs587779488, rs587779489, rs587779490, rs587779491, rs587779492, rs587779493, rs587779494, rs587779495, rs587779496, rs587779497, rs587779498, rs587779499, rs587779500, rs587779501, rs587779502, rs587779503, rs587779504, rs587779505, rs587779506, rs587779507, rs587779508, rs587779509, rs587779510, rs587779511, rs587779512, rs587779513, rs587779514, rs587779515, rs587779516, rs587779517, rs587779518, rs587779519, rs587779520, rs587779521, rs587779522, rs587779523, rs587779524, rs587779525, rs587779526, rs1559053784, rs587779527, rs587779528, rs587779529, rs587779530, rs587779531, rs587779532, rs587779533, rs587779534, rs587779535, rs587779536, rs587779537, rs587779539, rs587779540, rs587779541, rs587779542, rs587779543, rs587779544, rs587779545, rs587779546, rs587779547, rs587779548, rs587779549, rs587779550, rs587779551, rs587779552, rs587779553, rs587779554, rs587779555, rs587779556, rs587779557, rs587779558, rs587779559, rs587779560, rs587779561, rs587779562, rs587779563, rs587779564, rs587779566, rs587779567, rs587779568, rs587779569, rs587779570, rs587779571, rs587779572, rs587779573, rs587779574, rs587779575, rs587779576, rs587779577, rs587779578, rs587779579, rs587779580, rs587779581, rs587779582, rs587779583, rs587779584, rs587779586, rs587779587, rs587779588, rs587779589, rs587779590, rs587779591, rs587779592, rs587779593, rs587779594, rs587779595, rs587779596, rs587779597, rs587779598, rs587779599, rs587779600, rs587779601, rs587779602, rs1559061242, rs587779603, rs587779604, rs587779605, rs587779606, rs587779607, rs587779608, rs587779609, rs587779610, rs1559057346, rs587779611, rs587779612, rs587779613, rs587779614, rs587779615, rs587779616, rs587779617, rs587779618, rs1559055162, rs587779619, rs587779620, rs587779621, rs587779622, rs587779623, rs587779624, rs587779625, rs587779626, rs587779627, rs587779628, rs111505097, rs587779629, rs786200946, rs587779630, rs587779631, rs587779632, rs113871730, rs587779633, rs587779634, rs587779635, rs587779637, rs587779638, rs587779639, rs587779640, rs587779641, rs587779642, rs587779643, rs587779644, rs587779645, rs587779646, rs587779647, rs587779648, rs587779649, rs587779650, rs587779651, rs587779652, rs111929073, rs587779653, rs587779654, rs587779655, rs587779656, rs587779657, rs587779658, rs587779659, rs587779660, rs587779661, rs587779662, rs587779663, rs1553509630, rs587779664, rs587779665, rs587779666, rs587779667, rs587779668, rs587779669, rs587779670, rs587779671, rs112371422, rs587779672, rs587779673, rs587779674, rs587779675, rs587779676, rs587779677, rs587779678, rs587779679, rs587779680, rs587779681, rs587779682, rs587779683, rs587779684, rs587779685, rs587779686, rs587779687, rs587779688, rs587779689, rs587779690, rs587779691, rs587779692, rs587779693, rs587779694, rs587779695, rs587779696, rs587779697, rs587779698, rs587779699, rs587779700, rs587779701, rs587779702, rs587779703, rs587779704, rs1553508025, rs587779705, rs587779706, rs587779707, rs587779708, rs587779709, rs587779710, rs587779711, rs587779712, rs587779713, rs587779714, rs587779715, rs587779716, rs587779717, rs587779718, rs587779719, rs587779720, rs587779721, rs587779722, rs587779723, rs587777682, rs794728040, rs794728044, rs794728054, rs794728060, rs863223491, rs375845310, rs878853651, rs187063864, rs886038952, rs886038892, rs72656370, rs67507747, rs886042045, rs886042173, rs1057518075, rs1057518372, rs749890642, rs74315111, rs1057518653, rs1057519596, rs1057521106, rs1060500194, rs587779487, rs1060500199, rs1060500187, rs1060500200, rs1060500204, rs1060500203, rs1060500193, rs72658185, rs1114167416, rs67865220, rs72648326, rs72645321, rs72667036, rs1114167408, rs1085307896, rs1131691996, rs1553509397, rs1554227382, rs1554796176, rs1553509187, rs1553507265, rs1057524653, rs1553509744, rs1553507274, rs1553509430, rs72656356, rs786205100, rs1213427451, rs1555572239, rs1554781678, rs1553508338, rs72656363, rs1553507863, rs1553508039, rs1553514506, rs1553512393, rs1553513971, rs1553515517, rs1393544920, rs1553510000, rs72658129, rs1553151294, rs1553507432, rs1553507614, rs1553509208, rs1553509391, rs1553508238, rs1410254723, rs1179967153, rs1553509726, rs1553508473, rs1559058970, rs1559061674, rs112532745, rs1559052551, rs375737772, rs1559061706, rs1559056621, rs1559052609, rs1559059873, rs1559060412, rs1559061954, rs1559063681, rs1576465155, rs1559058482, rs1234344050, rs1564481053, rs1559054653, rs1173194734, rs1562906013, rs1439043436, rs1576463632, rs1576463663, rs772827388, rs1576467133, rs755528878, rs1576468160, rs1576468332, rs1576472890, rs1576474929, rs776640704, rs1576463100, rs1576468385, rs1576473641, rs201314784, rs1588562135, rs1576468562, rs1576471840, rs1333421028, rs1584318648, rs1584318956, rs1584319045, rs1584325552, rs1584329740, rs1588597744, rs1576467391, rs1588477255, rs1588621711, rs1688258933, rs1688305296, rs1688322272, rs1688384382, rs1688417659, rs1688529460, rs1688561706, rs1688586251, rs1685782021, rs1686209873, rs1553506938	15854030, 15666309, 10329027, 8163671, 25277362, 15979919, 10874315, 9220536, 8449506, 10686424, 9617436
Kyphoscoliotic ehlers-danlos syndrome	Ehlers-Danlos syndrome kyphoscoliotic type, Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	rs121913550, rs121913551, rs797044446, rs797044447, rs121913552, rs797044448, rs121913553, rs121913554, rs745409628, rs565513365, rs886042976, rs886043926, rs886043927, rs1553137486, rs1389548210, rs1557054873, rs1433428588, rs1401035675, rs1224538282, rs1557500194, rs1569713366, rs1439043436, rs112460511, rs1569724692, rs1645855563	15666309
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Keratoconus	Keratoconus	rs273585637, rs273585632, rs273585616, rs273585618, rs281865144, rs281865150, rs1553500862, rs756938019
Mitral valve prolapse	Mitral Valve Prolapse Syndrome	rs768737101
Moyamoya disease	Moyamoya Disease, Moyamoya disease 1	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410	29273593
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thoracic aortic aneurysm and aortic dissection	Familial thoracic aortic aneurysm and aortic dissection	rs121964962, rs121964964, rs5742905, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs587776600, rs121908172, rs121908173, rs121918714, rs104893809, rs104893815, rs104893810, rs104893811, rs104893816, rs104893817, rs104893819, rs111854391, rs113605875, rs111426349, rs267606902, rs121913552, rs267606796, rs137854458, rs137854461, rs137854463, rs137854464, rs137854466, rs112989722, rs137854476, rs137854477, rs137854478, rs137854479, rs137854480, rs137854485, rs786200923, rs113485686, rs397509370, rs121912927, rs121912923, rs121912926, rs121434526, rs121434527, rs121434528, rs387906592, rs387906606, rs387906623, rs387906697, rs387906781, rs387906782, rs387906850, rs587776881, rs387906853, rs193922183, rs193922185, rs193921256, rs112202622, rs193922198, rs193922204, rs113871094, rs147195031, rs193922236, rs397514558, rs397514590, rs397515757, rs113812345, rs25403, rs397515766, rs397515767, rs25404, rs397515774, rs397515784, rs397515788, rs397515793, rs397515805, rs397515808, rs397515811, rs397515812, rs111231312, rs113905529, rs113249837, rs397515821, rs397515823, rs397515829, rs111687884, rs113080385, rs397515848, rs397515854, rs397515867, rs397516685, rs112901682, rs397515330, rs587779450, rs587779461, rs587779471, rs587779476, rs587779478, rs587779479, rs587779482, rs587779490, rs587779504, rs397509372, rs587779518, rs587779534, rs587779536, rs587779540, rs587779550, rs587779535, rs587779563, rs587779583, rs587779584, rs587779596, rs587779604, rs587779609, rs587779500, rs587779620, rs587779625, rs587779626, rs587779541, rs587779650, rs587779671, rs112371422, rs587779685, rs587779687, rs587779691, rs587779692, rs587779695, rs587779533, rs587779706, rs587779712, rs587782948, rs587782977, rs587782979, rs587781259, rs767864243, rs146579504, rs864309481, rs370547023, rs727503476, rs727503472, rs727504292, rs727503054, rs140593, rs727503057, rs727505006, rs727504421, rs730880223, rs730880102, rs112645512, rs730880097, rs730880214, rs771298943, rs764160782, rs770095972, rs781444670, rs794727798, rs149119723, rs794728040, rs794728054, rs794728057, rs794728060, rs112602953, rs794728021, rs794728288, rs794728283, rs794728281, rs794728280, rs794728337, rs112118237, rs794728336, rs794728270, rs794728319, rs794728262, rs794728253, rs76702162, rs794728335, rs794728334, rs763091520, rs761857514, rs794728234, rs140627, rs140630, rs794728228, rs794728216, rs763449629, rs794728208, rs794728204, rs794728306, rs794728203, rs794728305, rs794728322, rs794728195, rs794728194, rs794728190, rs794728188, rs113422242, rs794728166, rs794728325, rs794728165, rs794728162, rs112660651, rs796051885, rs863223796, rs863223792, rs863223847, rs863223852, rs863223854, rs863223444, rs863223478, rs863223473, rs863223829, rs760079636, rs863223818, rs863223750, rs863223762, rs863223756, rs768713596, rs745672741, rs863223759, rs863223760, rs863223737, rs863223738, rs863223739, rs863223740, rs863223768, rs863223754, rs372010465, rs148865119, rs863224935, rs864622754, rs869025531, rs869025537, rs869025494, rs112642323, rs869025414, rs869025411, rs869025418, rs869312903, rs876657852, rs878854610, rs878854611, rs878853686, rs878853689, rs878853682, rs745409628, rs794728044, rs886038853, rs886038952, rs863223845, rs886039106, rs886038783, rs886038919, rs886038954, rs886038978, rs746972765, rs886038870, rs886038869, rs886038975, rs886038786, rs886038955, rs886038930, rs886039092, rs886039158, rs886038894, rs886038949, rs886038967, rs886038976, rs886039047, rs886038957, rs794728241, rs886038959, rs886038790, rs886039167, rs886038838, rs886038979, rs886039120, rs886038970, rs886038940, rs886039035, rs886039196, rs886038802, rs886038956, rs886038996, rs886038877, rs886039054, rs886039038, rs886038984, rs886038972, rs886039034, rs886039036, rs886039072, rs886039066, rs886038987, rs565513365, rs886039551, rs886039492, rs140583, rs886039550, rs886037823, rs886039820, rs886040966, rs886041046, rs886044547, rs755952006, rs1057518075, rs397514037, rs1057518653, rs1057521150, rs1057521106, rs1057524810, rs1057523796, rs1057523647, rs1057521101, rs1060501984, rs104893807, rs1060502045, rs1060502046, rs1060502827, rs1555399379, rs1060501035, rs1555412070, rs1555394151, rs1060501051, rs753486471, rs1060500770, rs1060500766, rs1060501092, rs1060501055, rs1060501021, rs1060501038, rs1060500773, rs1064796256, rs1064797017, rs1064794130, rs1064796636, rs1064794789, rs1555414236, rs757106110, rs1085307921, rs1085308004, rs1131691996, rs1131691766, rs363804, rs397515764, rs1555394195, rs113603747, rs528689432, rs587782947, rs1553303213, rs1553630171, rs1555360368, rs1555393875, rs1555395256, rs1555396427, rs1555397548, rs1006530719, rs587779704, rs587779578, rs104893812, rs1553630235, rs1553630289, rs1553630426, rs1553631693, rs1554122857, rs1057524497, rs1554700672, rs1555395486, rs1555396998, rs1555360229, rs1555412069, rs1555413579, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555400373, rs1555405031, rs1555397008, rs1555405108, rs1015798796, rs1553631968, rs1555394904, rs1553303352, rs1553508338, rs1555398835, rs1555401011, rs1555395826, rs1555399481, rs1347651454, rs1553508039, rs1553507180, rs1553507867, rs1553808296, rs727503475, rs1554799402, rs1554701881, rs1554702262, rs1555393516, rs1555393856, rs1555394142, rs1555395209, rs1555395742, rs1555396638, rs1555398830, rs1555399166, rs1555399387, rs1555400378, rs1555401687, rs1555459260, rs1433428588, rs1401035675, rs1553292123, rs1553303357, rs1553303745, rs1393544920, rs1553507574, rs1553507991, rs587779433, rs587779458, rs1553508957, rs1553509869, rs1554122896, rs1554123064, rs1554787526, rs1554792869, rs1554805638, rs1554726251, rs1554698926, rs1554700603, rs869025352, rs1555360047, rs1555393539, rs1555393823, rs1555393837, rs1555393844, rs1555393871, rs1555393880, rs1555394146, rs1555394149, rs1555394196, rs1555394396, rs1555394400, rs1555394433, rs112550005, rs1555394566, rs112836174, rs1555394781, rs1555394927, rs1555395002, rs1555395206, rs794728247, rs1304643689, rs1555395461, rs1555395652, rs1555395658, rs1555395840, rs765387131, rs1555396429, rs1555396760, rs1555396835, rs1555397000, rs1555397014, rs1555397016, rs1555397148, rs1555397154, rs778710767, rs1555397557, rs1555397646, rs1555397704, rs1555398143, rs1555398272, rs1555398406, rs372404949, rs1555398680, rs1555398681, rs1555398828, rs1057523406, rs1555399143, rs1555399147, rs1555399205, rs1555399257, rs1555399361, rs1555399388, rs1555399764, rs1555399835, rs1555399839, rs1555400285, rs1555401686, rs1555401699, rs363852, rs1555404819, rs1555405039, rs1555405056, rs1555405534, rs1555407416, rs1555405092, rs730880215, rs1557179684, rs1555395980, rs1555396789, rs1555399816, rs1555393647, rs1555395645, rs1556337063, rs1553507614, rs1553509391, rs1553630438, rs1553630274, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555395663, rs1555397652, rs1555398283, rs1445085747, rs1554702463, rs363810, rs363806, rs1555395820, rs1555394189, rs1555394397, rs1555394399, rs1555394783, rs363815, rs1555395267, rs111239111, rs1555396993, rs1060501076, rs113693945, rs1555398404, rs1555398625, rs1555399162, rs1555399210, rs193922188, rs1060501017, rs1060501041, rs1555400049, rs1555400278, rs1555400279, rs1156747241, rs1555400372, rs1555400387, rs752010116, rs1555401679, rs1555404810, rs141502207, rs1553292145, rs375737772, rs1566891654, rs1566897374, rs1566905976, rs1566891655, rs1346043320, rs1566999621, rs1567002059, rs1567002115, rs1567003613, rs863223832, rs1566891808, rs1245476075, rs1566890005, rs1352478541, rs1566913670, rs1566894230, rs765692335, rs1566914030, rs1566999458, rs1569482431, rs886039176, rs1566891701, rs1566999423, rs1566999601, rs1566999610, rs1559472349, rs1566891668, rs1566891675, rs1566892872, rs1566898120, rs1566900492, rs1566903914, rs1566904526, rs1555397419, rs1566906506, rs1555398627, rs1566919637, rs869312034, rs1566900540, rs794728192, rs1566938153, rs1566892735, rs1603360542, rs1597516325, rs1597531796, rs755528878, rs1575165264, rs1597512600, rs1597516347, rs1555398144, rs1595942351, rs1595960447, rs1595965925, rs1595965945, rs1576468385, rs1595956832, rs1320208623, rs1575165272, rs1597562812, rs1575166666, rs1588477255, rs794728193, rs1688258933, rs1699392675, rs760797386, rs1699709401, rs1827902114, rs2035418540, rs2043116624, rs1555395745, rs2043594915, rs2043746138, rs2043846274, rs2044515247, rs1291288543, rs373782713, rs2042873946, rs1688274077

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Porencephalic cyst	Porencephalic cyst			ClinVar
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, kyphoscoliotic type 1			GenCC
Moyamoya Disease	Moyamoya Disease			GWAS
Psoriasis	Psoriasis			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Aortic Aneurysm Familial Thoracic 1	Associate	34400365
Bicuspid Aortic Valve Disease	Associate	23525417
Bone Fragility with Contractures Arterial Rupture and Deafness	Inhibit	21699693
Bone Fragility with Contractures Arterial Rupture and Deafness	Associate	25277362, 33129265
Bruck syndrome 1	Associate	30721533
Carcinoma Renal Cell	Associate	31446433, 33287763
Cicatrix	Associate	32174067
Disease	Associate	30721533
Ehlers Danlos Syndrome	Associate	25277362, 29982180, 31063316
Ehlers Danlos syndrome type 6	Associate	11286629, 15854030, 21699693, 25277362, 28667723, 29982180, 31063316, 31288483, 32174067, 33129265, 33579342, 8981946
Epstein Barr Virus Infections	Associate	34304093
Gastroschisis	Associate	32163230
Hepatolenticular Degeneration	Associate	39809184
Hereditary Motor And Sensory Neuropathy VI	Associate	21699693, 28667723
Hypoxia	Associate	30257451
Hypoxia Brain	Associate	30257451, 31940282
Joint Instability	Associate	32174067
Kidney Neoplasms	Associate	33287763
Lujan Fryns syndrome	Associate	32174067
Lymphoma Non Hodgkin	Associate	33503035
Muscle Hypotonia	Associate	32174067
Myopia	Associate	21527992, 32174067
Neoplasm Metastasis	Associate	33134376
Neoplasms	Associate	31199049, 31446433, 33441653, 34304093, 34455762, 35627171
Osteoporotic Fractures	Associate	17320498
Osteosarcoma	Associate	33134376, 34455762
Plagiocephaly and X linked mental retardation	Associate	25277362
Prostatic Neoplasms	Associate	31940282
Rhabdoid Tumor	Associate	20212451
Sarcoma	Associate	35627171
Soft Tissue Injuries	Associate	35627171
Stomach Neoplasms	Associate	34304093, 34455762
Urinary Bladder Neoplasms	Associate	31199049, 34455762
Vascular Diseases	Associate	34400365