GDF6 (growth differentiation factor 6)

Gene

• Entrez ID: 392255
• Gene name: Growth differentiation factor 6
• Gene symbol: GDF6
• Synonyms (NCBI Gene): BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, SGM1, SYNS4
• Chromosome: 8
• Chromosome location: 8q22.1
• Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs63751220	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121909352	G>T	Likely-benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909353	T>C	Likely-benign, pathogenic	Missense variant, coding sequence variant
rs121909354	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs121909355	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909356	G>T	Pathogenic	Missense variant, coding sequence variant
rs140782427	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs387906794	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514725	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs878853102	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1401531865	C>G,R	Pathogenic	Missense variant, coding sequence variant
rs1554571213	A>T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	PAR-CLIP	26701625
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681713	hsa-miR-589-3p	PAR-CLIP	27292025
MIRT681712	hsa-miR-570-3p	HITS-CLIP	27418678
MIRT735642	hsa-miR-98-3p	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization	32045359
MIRT724186	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT724185	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT724184	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT724183	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT724182	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT724181	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT724180	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT724179	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT724178	hsa-miR-4279	HITS-CLIP	19536157
MIRT681713	hsa-miR-589-3p	HITS-CLIP	23706177
MIRT681712	hsa-miR-570-3p	HITS-CLIP	23706177
MIRT1015745	hsa-miR-361-3p	CLIP-seq
MIRT1015746	hsa-miR-3620	CLIP-seq
MIRT1015747	hsa-miR-4738-5p	CLIP-seq
MIRT1015748	hsa-miR-570	CLIP-seq
MIRT2000730	hsa-miR-1267	CLIP-seq
MIRT2000731	hsa-miR-4275	CLIP-seq
MIRT2000732	hsa-miR-4287	CLIP-seq
MIRT2000733	hsa-miR-4652-3p	CLIP-seq
MIRT2000734	hsa-miR-4685-3p	CLIP-seq
MIRT2000735	hsa-miR-4778-5p	CLIP-seq
MIRT2000736	hsa-miR-488	CLIP-seq
MIRT2000737	hsa-miR-653	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq
MIRT2450164	hsa-miR-1224-3p	CLIP-seq
MIRT2450165	hsa-miR-296-5p	CLIP-seq
MIRT2234210	hsa-miR-3183	CLIP-seq
MIRT2450166	hsa-miR-3184	CLIP-seq
MIRT2450167	hsa-miR-423-5p	CLIP-seq
MIRT2450168	hsa-miR-4688	CLIP-seq
MIRT2234211	hsa-miR-4723-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	IDA	32737436
GO:0001656	Process	Metanephros development	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	18586671
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	ISS
GO:0008083	Function	Growth factor activity	IEA
GO:0010631	Process	Epithelial cell migration	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	16049014
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	26643732
GO:0032924	Process	Activin receptor signaling pathway	IDA	16049014
GO:0035788	Process	Cell migration involved in metanephros development	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	16049014
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IMP	26643732
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:1900745	Process	Positive regulation of p38MAPK cascade	IEA
GO:1900745	Process	Positive regulation of p38MAPK cascade	ISS
GO:1990009	Process	Retinal cell apoptotic process	ISS

Other IDs

• MIM: 601147
• HGNC: 4221
• e!Ensembl: ENSG00000156466

Protein

• UniProt ID: Q6KF10
• Protein name: Growth/differentiation factor 6 (GDF-6) (Bone morphogenetic protein 13) (BMP-13) (Growth/differentiation factor 16)
• Protein function: Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and con
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00688	TGFb_propeptide	64 → 281	TGF-beta propeptide	Family
  PF00019	TGF_beta	353 → 454	Transforming growth factor beta like domain	Domain

• Sequence:

  MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDA
  GREGQEPQPRPQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQS
  SKSANTITSFVDRGLDDLSHTPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPP
  AGPLHVQLFPCLSPLLLDARTLDPQGAPPAGWEVFDVWQGLRHQPWKQLCLELRAAWGEL
  DAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVVFTRSQRKNLFAEMREQLGSA
  EAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKSRLRCSKKPLH
  VNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC
  VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR

• Sequence length: 455

Pathways

KEGG:

Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Klippel-Feil syndrome 1, autosomal dominant	Likely pathogenic	rs2130205786	RCV002226947
Leber congenital amaurosis 17	Pathogenic	rs1401531865	RCV000054425
Multiple synostoses syndrome 4	Pathogenic	rs1554571213	RCV000585781

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal dominant Parkinson disease 8	Conflicting classifications of pathogenicity	rs121909353	RCV000984889
Congenital anomaly of kidney and urinary tract	Conflicting classifications of pathogenicity	rs121909352, rs139075817	RCV001255226 RCV001255225
GDF6-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs138730867, rs774587683, rs121909352, rs63751220, rs1224870639, rs139075817, rs397514725, rs143020575, rs762304422	RCV003938689 RCV003938740 RCV003934812 RCV003952350 RCV003909853 RCV003955779 RCV004757958 RCV003962938 RCV003953595
Isolated microphthalmia 4	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1812440547, rs1277401260, rs768532556, rs772188117, rs1812739209, rs752600101, rs1451309614, rs552234954, rs1269055850, rs1178158158, rs762654952, rs1262253139, rs958381615, rs1378920942, rs1812745847, rs138730867, rs151332138, rs374740957, rs746383854, rs774587683, rs769581547, rs781205930, rs763584976, rs2130238034, rs768948963, rs1195615332, rs1266231101, rs879574630, rs749079662, rs1175841699, rs375992269, rs778071820, rs545149100, rs1812457627, rs926947319, rs1812463539, rs2130238372, rs1470026888, rs2130237604, rs2130208153, rs2130207705, rs756381156, rs200317462, rs2130205366, rs866273025, rs781155701, rs984197099, rs771878776, rs2130207135, rs774573217, rs750809706, rs2130237421, rs749337343, rs751465124, rs1812443639, rs370351474, rs1228278989, rs2130237348, rs764936321, rs1352200590, rs1331641099, rs763275206, rs2130237638, rs764553577, rs2130238399, rs144578143, rs376698111, rs1224736770, rs773668867, rs1006833447, rs781041300, rs2130206472, rs2130207617, rs988646683, rs121909354, rs888138096, rs766667262, rs966679733, rs1812447441, rs933957352, rs748092776, rs767572263, rs2130208544, rs1812746374, rs745989382, rs757715384, rs2130237859, rs565877093, rs2130208395, rs1812445302, rs769886732, rs2130237359, rs1399835264, rs1401531865, rs769923080, rs565004364, rs889118413, rs2130206656, rs994022206, rs756016892, rs1445514042, rs2130206381, rs777541984, rs2130237356, rs753326851, rs1812738202, rs536565151, rs2130238023, rs1343770559, rs375769410, rs777218109, rs1021290257, rs548565578, rs2130237722, rs779812603, rs767633784, rs1199396087, rs1465598776, rs756577201, rs1812441998, rs757029731, rs1036909955, rs1395008591, rs2487829940, rs766832433, rs1167399158, rs1197808121, rs746556723, rs563637313, rs780178598, rs977566933, rs760057321, rs1420918653, rs749993591, rs941023182, rs751734883, rs1019497420, rs556335226, rs1280924140, rs371969433, rs1440526922, rs1271746952, rs1812744962, rs768986192, rs368712395, rs1812440232, rs776405803, rs754717660, rs1489288093, rs753416812, rs1422809057, rs773136192, rs369743492, rs968048530, rs759021639, rs2487849764, rs1181314194, rs2487830865, rs1468526453, rs980017956, rs770548453, rs2487829720, rs1323438917, rs1224870639, rs1305809046, rs985872110, rs901058669, rs777793495, rs1812443060, rs2487829618, rs2487849847, rs1407352914, rs999492360, rs924084601, rs993039272, rs575981211, rs916794392, rs764642726, rs763310577, rs372946584, rs2130237274, rs2487849710, rs2487849057, rs2487829967, rs1812740475, rs2487849569, rs2487848915, rs780563975, rs2487830206, rs2487829777, rs1812447942, rs2487829838, rs2130207478, rs2487831245, rs886043381, rs2487849133, rs2487829960, rs121909352, rs63751220, rs121909353, rs121909355, rs121909356, rs148861809, rs112296824, rs755044459, rs140782427, rs530426330, rs1812440627, rs2487849736, rs1407763948, rs1368221807, rs1201519354, rs2487850052, rs2487831056, rs760564026, rs2487850014, rs2487830521, rs755472115, rs2487830980, rs2130206199, rs536011360, rs200398313, rs367719359, rs1358569869, rs2487849253, rs755677702, rs535049986, rs2487831261, rs2487849508, rs2487849349, rs1812453650, rs765928590, rs74498875, rs543473222, rs140579014, rs1191944900, rs772882945, rs1199035850, rs1264977365, rs2487830064, rs909520368, rs2487850027, rs1334067279, rs752395845, rs1479616197, rs990872341, rs1247737934, rs1218375531, rs2487830221, rs1404630168, rs757525366, rs886063208, rs774375234, rs1356835291, rs387906794, rs141468446, rs139075817, rs369859861, rs200585226, rs1586118480, rs528471783, rs369127445, rs397514725, rs143020575, rs776298591, rs1812445134, rs561421783, rs903826881, rs1812463179, rs368498747, rs1040541530, rs375108591, rs1215904741, rs552124580, rs779322747, rs780167779, rs765707228, rs1050890994, rs148321868, rs745979763, rs758091453, rs747899927, rs762304422, rs1303995573, rs1204502085, rs766458579, rs762461479, rs772435568, rs760516509, rs376427985, rs761634996, rs1444302456, rs536331514, rs367883918, rs768741148	RCV001326826 RCV001324004 RCV001323731 RCV001327602 RCV001314222 RCV001347939 RCV001340264 RCV001337738 RCV001871943 RCV001364724 RCV001373352 RCV001362422 RCV001362300 RCV001367996 RCV001361793 RCV001406161 RCV001398897 RCV001414834 RCV001399047 RCV001427802 RCV001442816 RCV001428730 RCV001471537 RCV001460284 RCV001481553 RCV001485435 RCV001489525 RCV001480927 RCV001502031 RCV001487336 RCV001496225 RCV001504746 RCV001515881 RCV002014461 RCV001874436 RCV001878231 RCV001878382 RCV001897823 RCV001998562 RCV001880323 RCV001943335 RCV002040644 RCV002034453 RCV001900234 RCV001948143 RCV001995146 RCV002033765 RCV002003107 RCV002025454 RCV002031583 RCV002040204 RCV001891122 RCV001940313 RCV002017524 RCV001923650 RCV002012113 RCV002010881 RCV001885002 RCV001926365 RCV002028837 RCV001894733 RCV001952725 RCV001984864 RCV002012175 RCV001865187 RCV001899382 RCV002016100 RCV001917999 RCV001895599 RCV001938960 RCV002016757 RCV001879435 RCV001931824 RCV001906536 RCV002045636 RCV001901583 RCV001906718 RCV001947979 RCV001992598 RCV002030707 RCV001881138 RCV001982170 RCV001965862 RCV001974461 RCV001973506 RCV001909345 RCV001866890 RCV001888058 RCV001876414 RCV002012567 RCV002043908 RCV002078276 RCV002180640 RCV002088397 RCV002160437 RCV002219593 RCV002108842 RCV002082276 RCV002098706 RCV002207476 RCV002150782 RCV002197812 RCV002212368 RCV002166896 RCV002218849 RCV002212325 RCV002127236 RCV002133241 RCV002161296 RCV002210489 RCV002092820 RCV002137730 RCV002218636 RCV002102112 RCV002216234 RCV002133687 RCV002121253 RCV002190348 RCV002094865 RCV002216630 RCV002189272 RCV002080694 RCV002304380 RCV002297394 RCV002299777 RCV003775527 RCV003037299 RCV003066714 RCV003053371 RCV003081397 RCV003083293 RCV003077583 RCV003087615 RCV003092258 RCV003078331 RCV003093673 RCV003080156 RCV003091839 RCV003100367 RCV003086420 RCV003082912 RCV002611121 RCV002623285 RCV002612410 RCV002624733 RCV003104694 RCV002600994 RCV002597412 RCV002617289 RCV002621498 RCV002608982 RCV002667705 RCV002646489 RCV002701540 RCV002765483 RCV002765375 RCV002740474 RCV002730291 RCV002751612 RCV002795242 RCV002791625 RCV002811525 RCV002810805 RCV002815867 RCV002829574 RCV002838228 RCV002830100 RCV002861779 RCV002894163 RCV002876467 RCV002863597 RCV002886688 RCV002899846 RCV002913677 RCV002885688 RCV002882183 RCV002882184 RCV002933344 RCV002914207 RCV002958737 RCV002959161 RCV002972474 RCV002972419 RCV002988523 RCV002998861 RCV002998905 RCV002999426 RCV003014165 RCV003011697 RCV003046215 RCV003028686 RCV003031913 RCV003023605 RCV003045534 RCV003032805 RCV003040301 RCV003053808 RCV003040029 RCV003044099 RCV003036194 RCV003046617 RCV003057021 RCV003055601 RCV003035959 RCV003036876 RCV003064200 RCV003049959 RCV000008877 RCV001399723 RCV001429590 RCV001486135 RCV000008881 RCV000008882 RCV000535826 RCV000647352 RCV005209606 RCV001239678 RCV003778444 RCV005355683 RCV003785504 RCV003785653 RCV003787750 RCV003786070 RCV003784048 RCV003784106 RCV003784337 RCV003781898 RCV003782155 RCV003785362 RCV003789980 RCV003795622 RCV003780117 RCV003780299 RCV003792992 RCV003790333 RCV003784977 RCV003787270 RCV003798232 RCV003798361 RCV003808060 RCV003806106 RCV003806315 RCV003793633 RCV003799611 RCV003799922 RCV003805388 RCV003805932 RCV000953858 RCV000878364 RCV003803859 RCV000878422 RCV003798973 RCV003799047 RCV003799362 RCV003797700 RCV003801357 RCV003796910 RCV003794956 RCV003792556 RCV003800165 RCV003807140 RCV003804565 RCV003818042 RCV003815648 RCV003813238 RCV003807292 RCV003812339 RCV002058750 RCV001861334 RCV002523706 RCV005209666 RCV002513180 RCV000548440 RCV000878637 RCV000878606 RCV000952672 RCV002539407 RCV002065458 RCV002065744 RCV001853075 RCV001463554 RCV001486737 RCV002066491 RCV001038033 RCV001038235 RCV001039307 RCV001036566 RCV001058520 RCV001070415 RCV001055413 RCV001037229 RCV001049407 RCV005213480 RCV003769805 RCV001859071 RCV001873552 RCV005213479 RCV001228299 RCV002067827 RCV001397145 RCV001208636 RCV001208908 RCV001232658 RCV001226673 RCV001238513 RCV001226959 RCV001232106 RCV001236307 RCV001244140 RCV001244088 RCV001239642 RCV001298161 RCV001298478 RCV001304780 RCV001298384 RCV001305381 RCV001307223 RCV001305806
Klippel-Feil syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs121909352, rs121909353, rs886063205, rs139734303, rs886063199, rs886063203, rs886063198, rs1554571161, rs886063197, rs71275339, rs142786788	RCV000353571 RCV000287766 RCV000333643 RCV000324936 RCV000308068 RCV000368272 RCV000404882 RCV000369646 RCV000343011 RCV000362793 RCV000260930 RCV000273386
Malignant tumor of esophagus	Benign	rs73698505, rs112542818	RCV005900419 RCV005908860
Microphthalmia, isolated, with coloboma 6	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs1812440547, rs1277401260, rs768532556, rs772188117, rs1812739209, rs752600101, rs1451309614, rs552234954, rs1269055850, rs1178158158, rs762654952, rs1262253139, rs958381615, rs1378920942, rs1812745847, rs138730867, rs151332138, rs374740957, rs746383854, rs774587683, rs769581547, rs781205930, rs763584976, rs2130238034, rs768948963, rs1195615332, rs1266231101, rs879574630, rs749079662, rs1175841699, rs375992269, rs778071820, rs545149100, rs1812457627, rs926947319, rs1812463539, rs2130238372, rs1470026888, rs2130237604, rs2130208153, rs2130207705, rs756381156, rs200317462, rs2130205366, rs866273025, rs781155701, rs984197099, rs771878776, rs2130207135, rs774573217, rs750809706, rs2130237421, rs749337343, rs751465124, rs1812443639, rs370351474, rs1228278989, rs2130237348, rs764936321, rs1352200590, rs1331641099, rs763275206, rs2130237638, rs764553577, rs2130238399, rs144578143, rs376698111, rs1224736770, rs773668867, rs1006833447, rs781041300, rs2130206472, rs2130207617, rs988646683, rs121909354, rs888138096, rs766667262, rs966679733, rs1812447441, rs933957352, rs748092776, rs767572263, rs2130208544, rs1812746374, rs745989382, rs757715384, rs2130237859, rs565877093, rs2130208395, rs1812445302, rs769886732, rs2130237359, rs1399835264, rs1401531865, rs769923080, rs565004364, rs889118413, rs2130206656, rs994022206, rs756016892, rs1445514042, rs2130206381, rs777541984, rs2130237356, rs753326851, rs1812738202, rs536565151, rs2130238023, rs1343770559, rs375769410, rs777218109, rs1021290257, rs548565578, rs2130237722, rs779812603, rs767633784, rs1199396087, rs1465598776, rs756577201, rs1812441998, rs757029731, rs1036909955, rs1395008591, rs2487829940, rs766832433, rs1167399158, rs1197808121, rs746556723, rs563637313, rs780178598, rs977566933, rs760057321, rs1420918653, rs749993591, rs941023182, rs751734883, rs1019497420, rs556335226, rs1280924140, rs371969433, rs1440526922, rs1271746952, rs1812744962, rs768986192, rs368712395, rs1812440232, rs776405803, rs754717660, rs1489288093, rs753416812, rs1422809057, rs773136192, rs369743492, rs968048530, rs759021639, rs2487849764, rs1181314194, rs2487830865, rs1468526453, rs980017956, rs770548453, rs2487829720, rs1323438917, rs1224870639, rs1305809046, rs985872110, rs901058669, rs777793495, rs1812443060, rs2487829618, rs2487849847, rs1407352914, rs999492360, rs924084601, rs993039272, rs575981211, rs916794392, rs764642726, rs763310577, rs372946584, rs2130237274, rs2487849710, rs2487849057, rs2487829967, rs1812740475, rs2487849569, rs2487848915, rs780563975, rs2487830206, rs2487829777, rs1812447942, rs2487829838, rs2130207478, rs2487831245, rs886043381, rs2487849133, rs2487829960, rs121909352, rs63751220, rs121909353, rs121909355, rs121909356, rs148861809, rs112296824, rs755044459, rs140782427, rs530426330, rs1812440627, rs2487849736, rs1407763948, rs1368221807, rs1201519354, rs2487850052, rs2487831056, rs760564026, rs2487850014, rs2487830521, rs755472115, rs2487830980, rs2130206199, rs536011360, rs200398313, rs367719359, rs1358569869, rs2487849253, rs755677702, rs535049986, rs2487831261, rs2487849508, rs2487849349, rs1812453650, rs765928590, rs74498875, rs543473222, rs140579014, rs1191944900, rs772882945, rs1199035850, rs1264977365, rs2487830064, rs909520368, rs2487850027, rs1334067279, rs752395845, rs1479616197, rs990872341, rs1247737934, rs1218375531, rs2487830221, rs1404630168, rs757525366, rs886063208, rs774375234, rs1356835291, rs387906794, rs141468446, rs139075817, rs369859861, rs200585226, rs1586118480, rs528471783, rs369127445, rs397514725, rs143020575, rs776298591, rs1812445134, rs561421783, rs903826881, rs1812463179, rs368498747, rs1040541530, rs375108591, rs1215904741, rs552124580, rs779322747, rs780167779, rs765707228, rs1050890994, rs148321868, rs745979763, rs758091453, rs747899927, rs762304422, rs1303995573, rs1204502085, rs766458579, rs762461479, rs772435568, rs760516509, rs376427985, rs761634996, rs1444302456, rs536331514, rs367883918, rs768741148	RCV001326826 RCV001324004 RCV001323731 RCV001327602 RCV001314222 RCV001347939 RCV001340264 RCV001337738 RCV001871943 RCV001364724 RCV001373352 RCV001362422 RCV001362300 RCV001367996 RCV001361793 RCV001406161 RCV001398897 RCV001414834 RCV001399047 RCV001427802 RCV001442816 RCV001428730 RCV001471537 RCV001460284 RCV001481553 RCV001485435 RCV001489525 RCV001480927 RCV001502031 RCV001487336 RCV001496225 RCV001504746 RCV001515881 RCV002014461 RCV001874436 RCV001878231 RCV001878382 RCV001897823 RCV001998562 RCV001880323 RCV001943335 RCV002040644 RCV002034453 RCV001900234 RCV001948143 RCV001995146 RCV002033765 RCV002003107 RCV002025454 RCV002031583 RCV002040204 RCV001891122 RCV001940313 RCV002017524 RCV001923650 RCV002012113 RCV002010881 RCV001885002 RCV001926365 RCV002028837 RCV001894733 RCV001952725 RCV001984864 RCV002012175 RCV001865187 RCV001899382 RCV002016100 RCV001917999 RCV001895599 RCV001938960 RCV002016757 RCV001879435 RCV001931824 RCV001906536 RCV002045636 RCV001901583 RCV001906718 RCV001947979 RCV001992598 RCV002030707 RCV001881138 RCV001982170 RCV001965862 RCV001974461 RCV001973506 RCV001909345 RCV001866890 RCV001888058 RCV001876414 RCV002012567 RCV002043908 RCV002078276 RCV002180640 RCV002088397 RCV002160437 RCV002219593 RCV002108842 RCV002082276 RCV002098706 RCV002207476 RCV002150782 RCV002197812 RCV002212368 RCV002166896 RCV002218849 RCV002212325 RCV002127236 RCV002133241 RCV002161296 RCV002210489 RCV002092820 RCV002137730 RCV002218636 RCV002102112 RCV002216234 RCV002133687 RCV002121253 RCV002190348 RCV002094865 RCV002216630 RCV002189272 RCV002080694 RCV002304380 RCV002297394 RCV002299777 RCV003775527 RCV003037299 RCV003066714 RCV003053371 RCV003081397 RCV003083293 RCV003077583 RCV003087615 RCV003092258 RCV003078331 RCV003093673 RCV003080156 RCV003091839 RCV003100367 RCV003086420 RCV003082912 RCV002611121 RCV002623285 RCV002612410 RCV002624733 RCV003104694 RCV002600994 RCV002597412 RCV002617289 RCV002621498 RCV002608982 RCV002667705 RCV002646489 RCV002701540 RCV002765483 RCV002765375 RCV002740474 RCV002730291 RCV002751612 RCV002795242 RCV002791625 RCV002811525 RCV002810805 RCV002815867 RCV002829574 RCV002838228 RCV002830100 RCV002861779 RCV002894163 RCV002876467 RCV002863597 RCV002886688 RCV002899846 RCV002913677 RCV002885688 RCV002882183 RCV002882184 RCV002933344 RCV002914207 RCV002958737 RCV002959161 RCV002972474 RCV002972419 RCV002988523 RCV002998861 RCV002998905 RCV002999426 RCV003014165 RCV003011697 RCV003046215 RCV003028686 RCV003031913 RCV003023605 RCV003045534 RCV003032805 RCV003040301 RCV003053808 RCV003040029 RCV003044099 RCV003036194 RCV003046617 RCV003057021 RCV003055601 RCV003035959 RCV003036876 RCV003064200 RCV003049959 RCV001522988 RCV001399723 RCV001429590 RCV001486135 RCV001851750 RCV001514645 RCV000535826 RCV000647352 RCV005209606 RCV001239678 RCV003778444 RCV005355683 RCV003785504 RCV003785653 RCV003787750 RCV003786070 RCV003784048 RCV003784106 RCV003784337 RCV003781898 RCV003782155 RCV003785362 RCV003789980 RCV003795622 RCV003780117 RCV003780299 RCV003792992 RCV003790333 RCV003784977 RCV003787270 RCV003798232 RCV003798361 RCV003808060 RCV003806106 RCV003806315 RCV003793633 RCV003799611 RCV003799922 RCV003805388 RCV003805932 RCV000953858 RCV000878364 RCV003803859 RCV000878422 RCV003798973 RCV003799047 RCV003799362 RCV003797700 RCV003801357 RCV003796910 RCV003794956 RCV003792556 RCV003800165 RCV003807140 RCV003804565 RCV003818042 RCV003815648 RCV003813238 RCV003807292 RCV003812339 RCV002058750 RCV001861334 RCV002523706 RCV005209666 RCV000023075 RCV000548440 RCV000878637 RCV000878606 RCV000952672 RCV002539407 RCV002065458 RCV002065744 RCV001853075 RCV001463554 RCV001486737 RCV002066491 RCV001038033 RCV001038235 RCV001039307 RCV001036566 RCV001058520 RCV001070415 RCV001055413 RCV001037229 RCV001049407 RCV005213480 RCV003769805 RCV001859071 RCV001873552 RCV005213479 RCV001228299 RCV002067827 RCV001397145 RCV001208636 RCV001208908 RCV001232658 RCV001226673 RCV001238513 RCV001226959 RCV001232106 RCV001236307 RCV001244140 RCV001244088 RCV001239642 RCV001298161 RCV001298478 RCV001304780 RCV001298384 RCV001305381 RCV001307223 RCV001305806
Ovarian serous cystadenocarcinoma	Benign	rs73698505	RCV005900421
Retinal dystrophy	Benign; Conflicting classifications of pathogenicity	rs748092776, rs121909352	RCV004815710 RCV004814864
Sarcoma	Benign	rs73698505, rs112542818	RCV005900420 RCV005908861

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	24618041
Anophthalmos	Associate	21203406
Carcinoma Hepatocellular	Associate	37446238
Colorectal Neoplasms	Associate	32407802
Eye Abnormalities	Associate	25457163
Fibrocartilaginous embolism	Stimulate	24618041
Fibrocartilaginous embolism	Associate	31066515
Granuloma Annulare	Inhibit	26134557
Klippel Feil Syndrome	Associate	19240811, 23620759, 26238661, 32278351
Macular Degeneration	Associate	25416513
Microphthalmos	Associate	25457163
Myocardial Ischemia	Associate	34319658
Neoplasm Metastasis	Associate	35280443
Neoplasms	Associate	32407802
NOG Related Symphalangism Spectrum Disorder	Associate	34573339
Otosclerosis	Associate	34573339
Pancreatitis Chronic	Inhibit	30680957
Polypoidal Choroidal Vasculopathy	Associate	25416513
Speech Disorders	Associate	34573339
Synostosis	Associate	34573339
Thyroid cancer medullary	Associate	35280443