CDKN1C (cyclin dependent kinase inhibitor 1C)

Gene

• Entrez ID: 1028
• Gene name: Cyclin dependent kinase inhibitor 1C
• Gene symbol: CDKN1C
• Synonyms (NCBI Gene): BWCR, BWS, KIP2, WBS, p57, p57Kip2
• Disease Acronyms (UniProt): BWS
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894200	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs137852766	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606716	G>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs318240750	C>A,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs387906399	AG>C	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs387907223	A>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs387907224	A>G	Pathogenic	Missense variant, coding sequence variant
rs387907225	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387907226	T>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs515726203	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs546016935	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, synonymous variant, coding sequence variant
rs587777866	A>G	Pathogenic	Splice donor variant
rs759134767	CGGGGCCGGGGCCGGGGC>-,CGGGGC,CGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC,CGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe insertion, coding sequence variant, intron variant, inframe deletion
rs772704243	CGGGGCCGGGGC>-,CGGGGC,CGGGGCCGGGGCCGGGGC	Pathogenic, likely-benign	Coding sequence variant, inframe insertion, inframe deletion, intron variant
rs786205234	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205235	->G	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205236	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205237	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205239	C>TT	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205240	GCCG>CCC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs786205241	->AGCGGGGCCGG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs794726872	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs797045445	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs878853625	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs878853632	AGCCGGAGCCGGAGCCGG>-,AGCCGG,AGCCGGAGCCGG,AGCCGGAGCCGGAGCCGGAGCCGG	Likely-benign, conflicting-interpretations-of-pathogenicity	Inframe insertion, inframe deletion, coding sequence variant, intron variant
rs886037912	C>A	Pathogenic	Missense variant, coding sequence variant
rs1554937726	CGGTGCCGGCCG>GCAC	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554937790	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554937847	->GCGGGGGCCGGGGCCGGGGCCGGGG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938069	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938087	TCGAGGCC>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554938194	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554938197	->CCAGCTGGAA	Pathogenic	Coding sequence variant, frameshift variant
rs1564929426	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1564929520	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1564929584	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1564929735	CC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1590150660	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002272	hsa-miR-221-3p	Reporter assay	18521080
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, Western blot	18413744
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay, Western blot	18413744
MIRT004293	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	19544458
MIRT004293	hsa-miR-92b-3p	Luciferase reporter assay, Western blot	19544458
MIRT004317	hsa-miR-25-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT000719	hsa-miR-222-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT002272	hsa-miR-221-3p	qRT-PCR, Luciferase reporter assay, Western blot	19153141
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay, Western blot	19589872
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot, Northern blot	18521080
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay	18521080
MIRT000719	hsa-miR-222-3p	Luciferase reporter assay	18413744
MIRT002272	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	21278784
MIRT000719	hsa-miR-222-3p	qRT-PCR	23447020
MIRT018103	hsa-miR-335-5p	Microarray	18185580
MIRT000719	hsa-miR-222-3p	Reporter assay;Other	18413744
MIRT002272	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT002272	hsa-miR-221-3p	Reporter assay	18413744

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Unknown	20106982
HOXA10	Repression	15749785
KLF4	Activation	19544095
PROX1	Activation	17069925
VHL	Activation	15824735

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004860	Function	Protein kinase inhibitor activity	IMP	11746698
GO:0004861	Function	Cyclin-dependent protein serine/threonine kinase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	16289477, 18660753, 19170105, 22634751
GO:0005634	Component	Nucleus	IDA	16943770
GO:0005737	Component	Cytoplasm	IDA	16943770
GO:0007050	Process	Cell cycle arrest	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	16943770
GO:0033673	Process	Negative regulation of kinase activity	IDA	19170105
GO:0042326	Process	Negative regulation of phosphorylation	IDA	19170105
GO:0044877	Function	Protein-containing complex binding	IPI	11746698
GO:0045736	Process	Negative regulation of cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	19170105
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IGI	19170105
GO:0045930	Process	Negative regulation of mitotic cell cycle	IBA	21873635
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	16943770
GO:1904030	Process	Negative regulation of cyclin-dependent protein kinase activity	IMP	11746698

Other IDs

• MIM: 600856
• HGNC: 1786
• e!Ensembl: ENSG00000129757

Protein

• UniProt ID: P49918
• Protein name: Cyclin-dependent kinase inhibitor 1C (Cyclin-dependent kinase inhibitor p57) (p57Kip2)
• Protein function: Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02234	CDI	32 → 82	Cyclin-dependent kinase inhibitor	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver. {ECO:0000269|PubMed:22634751}.
• Sequence:

  MSDASLRSTSTMERLVARGTFPVLVRTSACRSLFGPVDHEELSRELQARLAELNAEDQNR
  WDYDFQQDMPLRGPGRLQWTEVDSDSVPAFYRETVQVGRCRLLLAPRPVAVAVAVSPPLE
  PAAESLDGLEEAPEQLPSVPVPAPASTPPPVPVLAPAPAPAPAPVAAPVAAPVAVAVLAP
  APAPAPAPAPAPAPVAAPAPAPAPAPAPAPAPAPAPDAAPQESAEQGANQGQRGQEPLAD
  QLHSGISGRPAAGTAAASANGAAIKKLSGPLISDFFAKRKRSAPEKSSGDVPAPCPSPSA
  APGVGSVEQTPRKRLR

• Sequence length: 316

Pathways

KEGG:

Cell cycle

Reactome:

Cyclin D associated events in G1

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21552421
Adrenocortical carcinoma	Adrenocortical carcinoma	rs121912656, rs28934874, rs121912662, rs786202525, rs121912664, rs397516435, rs121913343, rs587780070, rs121912666, rs55832599, rs587782144, rs587782272, rs587782529, rs587782620, rs587782664, rs587782705, rs193920817, rs55863639, rs730882029, rs730882005, rs730882025, rs730881999, rs786201838, rs786202962, rs863224451, rs863224499, rs760043106, rs11540652, rs11540654, rs876658483, rs587781525, rs1057519986, rs1057519989, rs530941076, rs1060501197, rs1064792930, rs1064794618, rs1131691042, rs1555526131, rs1057519990, rs1555526097, rs1567554500, rs1131691039, rs1202793339, rs769697802
Beckwith-wiedemann syndrome	Beckwith-Wiedemann Syndrome, Beckwith-Wiedemann syndrome due to CDKN1C mutation	rs1800171, rs137852766, rs2133780364, rs387906399, rs104894200, rs267606716, rs387907225, rs483352970, rs786205235, rs786205236, rs483352988, rs483352991, rs483352993, rs483352997, rs587777866, rs587784104, rs587784174, rs786205240, rs1554937847, rs786205237, rs786205239, rs786205241, rs786205234, rs318240750, rs797045445, rs878855075, rs878855077, rs1554189490, rs1060501492, rs1060501497, rs1060501490, rs1064794051, rs1554190214, rs1554190247, rs1554204952, rs1554204923, rs1554189131, rs1554195840, rs1554938194, rs1554937726, rs1554189512, rs1554202205, rs1554938087, rs1554938197, rs1562097849, rs1562213553, rs1564929426, rs1564929520, rs1564929584, rs1562305653, rs1581319715, rs1581497686, rs1590150660, rs1848914894, rs1848915004, rs1848930692, rs1848940003, rs1564930265, rs1848966851, rs1848977725	22634751, 10424811, 10424812, 26077438, 9341892, 20503313
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21552421
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Congenital hemihypertrophy	Congenital hemihypertrophy	rs1575653629
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	22064387
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Hepatoblastoma	Hepatoblastoma	rs137854578, rs28934573, rs121913412
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Image syndrome	IMAGe syndrome	rs387907223, rs387907224, rs318240750, rs387907225, rs387907226, rs483352989
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	rs1555222342, rs1196356920, rs762985435	10424812, 9341892, 22634751, 10424811, 25614875, 25057881, 24098681
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	21552421, 20512841
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	17145863
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	10424812
Pyle metaphyseal dysplasia	Pyle metaphyseal dysplasia	rs879255603, rs755007671, rs879253778
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18322470
Silver-russell syndrome	Silver-Russell syndrome due to a point mutation	rs318240750, rs869320620, rs1114167318, rs1114167319, rs1114167320, rs1064794050, rs1114167317, rs1114167321
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease term	Disease name	Evidence	References	Source
Silver-Russell Syndrome	Silver-Russell syndrome			GenCC
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Associate	20484977, 34065128
Adrenal Insufficiency	Associate	33076988
Adrenocortical Carcinoma	Associate	18786438
AIDS Associated Nephropathy	Inhibit	10886558, 10916090
Anemia Diamond Blackfan	Associate	31961825
Astrocytoma	Inhibit	10980131, 30941985
Astrocytoma	Associate	15367334
Atherosclerosis	Associate	17351341
Autoimmune Diseases	Associate	22771791
Beckwith Wiedemann Syndrome	Associate	10220444, 10424811, 10424812, 11106355, 14627666, 15372379, 16061564, 17259293, 19300480, 21248736, 22079941, 22205991, 25057881, 27313795, 29047350, 30352048, 31174542, 32427849, 33443097, 34065128, 34074808, 34098225, 34239499, 34299047, 35181034, 37686168, 40490796, 8610162, 8618920, 9152830, 9311733, 9311734
Birk Barel Mental Retardation Dysmorphism Syndrome	Associate	40490796
Breast Neoplasms	Associate	18325103, 23244105, 23873832, 28106536, 34464504
Breast Neoplasms	Inhibit	19340297, 21304052
Breast Neoplasms Male	Associate	20152033
Carcinogenesis	Associate	15754413, 34299047
Carcinoma Hepatocellular	Inhibit	10779553
Carcinoma Hepatocellular	Associate	15754413, 24663086, 26271467, 30544064, 35321452, 37212524
Carcinoma Non Small Cell Lung	Associate	12878869
Carcinoma Non Small Cell Lung	Stimulate	31109257
Carcinoma Ovarian Epithelial	Associate	22233925
Carcinoma Renal Cell	Associate	30941985, 34716619
Carcinoma Squamous Cell	Associate	23580324, 37257769
Charcot Marie Tooth disease Type 1C	Associate	18325103
Choroideremia	Associate	27221896, 28974845, 31567274, 32653131
Ciliary Motility Disorders	Associate	24824133
Colorectal Neoplasms	Associate	21278784, 32141544, 32592383, 32711442, 35627268, 36708218
Congenital Abnormalities	Associate	11106355
Congenital heart block	Associate	7813108
Congenital Hyperinsulinism	Associate	26572961
Developmental Disabilities	Associate	33443097
Diabetes Gestational	Stimulate	31194812
Diabetes Gestational	Associate	32404958, 34580843
Diabetes Mellitus	Associate	23139357, 25057881, 37700362
Diabetes Mellitus Type 2	Associate	29207083
Diabetes Mellitus Type 2	Stimulate	37700362
Diabetic Nephropathies	Associate	26376129
Distal myopathy Nonaka type	Associate	22992698
DNA Virus Infections	Associate	32050593
Drug Related Side Effects and Adverse Reactions	Associate	17173074
Edema	Associate	28574027, 38291567
Fetal Death	Associate	20484977
Fetal Growth Retardation	Associate	20008130, 23243085, 25057881, 27313795, 33076988, 33443097
Fetal Growth Retardation	Stimulate	24986528, 33389447
Gallbladder Neoplasms	Associate	17595796
Gastrointestinal Stromal Tumors	Associate	22701369
Gaucher Disease Perinatal Lethal	Associate	34065128
Genetic Diseases Inborn	Associate	34299047
Gestational Trophoblastic Disease	Associate	34074808
Gilbert Disease	Associate	17259293
Glioblastoma	Associate	15494095
Glomerulonephritis	Associate	15208647, 25026939
Glomerulosclerosis Focal Segmental	Inhibit	10916090
Glomerulosclerosis Focal Segmental	Associate	15100731
Graft vs Host Disease	Associate	22771791
Growth Disorders	Associate	25057881, 27313795, 27611768
Heart Diseases	Associate	7813108
Hematologic Neoplasms	Associate	15477587
Hepatitis E	Associate	27221896
Hepatoblastoma	Associate	11021841
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18325103
Hernia Umbilical	Associate	10424811, 29047350, 34065128
Hydatidiform Mole	Associate	15314611, 22992698, 23887308, 26846439, 27221896, 27716354, 28574027, 28974845, 31567274, 31833013, 32653131, 33024305, 34057923, 34074808, 34958055, 38291567
Hypopharyngeal Neoplasms	Associate	27469492
Immune System Diseases	Associate	30503519
Inflammation	Associate	19880449
Inflammation	Inhibit	25026939
Insulinoma	Associate	26756113
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	24098681, 25057881, 33076988, 33443097, 34098225, 34299047
Kidney Diseases	Associate	10916090, 15208647
Kimura Disease	Associate	15100731
Leukemia	Associate	16184585, 26985855, 30792202
Leukemia Lymphocytic Chronic B Cell	Stimulate	9067496
Leukemia Lymphoid	Associate	30503519
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26985855
Leukemia Myeloid Acute	Associate	16315255, 35627268
Lung Neoplasms	Associate	12878869, 21360479
Lung Neoplasms	Stimulate	31109257
Lupus Erythematosus Systemic	Associate	7813108
Lymphatic Metastasis	Inhibit	21360479
Lymphoma	Associate	12239171
Lymphoma B Cell Marginal Zone	Associate	16357845
Lymphoma Follicular	Associate	12239171
Lymphoma Large B Cell Diffuse	Associate	12239171, 16357845, 18288132
Lymphoma Mantle Cell	Associate	37598282
Lymphoma T Cell Cutaneous	Associate	23171462
Macroglossia	Associate	40490796
Macular Degeneration	Associate	30946360
Meningioma	Associate	29131275
Microcephaly	Associate	33443097
Myelodysplastic Syndromes	Inhibit	22889515
Myocardial Infarction	Associate	17351341
Neonatal Systemic lupus erythematosus	Associate	7813108
Neoplasm Metastasis	Associate	23244105
Neoplasm Metastasis	Inhibit	26271467
Neoplasms	Inhibit	10935489, 10944603, 12239171, 12548606, 12872447, 15477587, 17977648, 18325103, 19340297, 20082326, 20106982, 21170264, 21304052, 22889515, 25537506, 26568413, 30544064, 32711442, 37257769, 8610162, 8618920
Neoplasms	Associate	12532471, 12733146, 15754413, 15899813, 16124066, 16908595, 18288132, 21553350, 22701369, 23244105, 23580324, 24990820, 26271467, 27469492, 27611768, 30941985, 34098225, 35321452, 37212524, 9311733, 9520460
Neoplasms Germ Cell and Embryonal	Associate	8610162
Neoplasms Germ Cell and Embryonal	Inhibit	8618920
Nephrotic Syndrome	Associate	31961825
Nevus	Associate	15314611, 28574027, 30952972, 34958055
Osteosarcoma	Associate	29295723
Pancreatic Neoplasms	Associate	12532471, 16124066
Philadelphia Chromosome	Associate	12586619
Placenta Diseases	Associate	21513565, 35581658
Pre Eclampsia	Associate	25323968
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	12586619
Preeclamptic toxemia	Inhibit	25323968
Propping Zerres syndrome	Inhibit	34325314
Prostatic Neoplasms	Associate	15899813, 24513574
Pulmonary Atelectasis	Inhibit	10916090
Pyle disease	Associate	25057881, 33076988
Rhabdoid Tumor	Associate	20212451
Rhabdomyosarcoma	Associate	34095712, 34325314
Rhabdomyosarcoma Alveolar	Inhibit	34325314
Sarcoma Ewing	Associate	18271016
Silver Russell Syndrome	Associate	16963484, 27313795, 32427849, 33076988, 34299047
Simpson Golabi Behmel syndrome	Associate	40490796
Stomach Neoplasms	Associate	21553350, 32292506
Syndrome	Associate	36549505
Tetralogy of Fallot	Associate	27313795
Thyroid Cancer Papillary	Associate	31591432
Triple Negative Breast Neoplasms	Associate	30060056
Typical Teratoid Rhabdoid Tumor	Associate	28731921
Uniparental disomy of 11	Associate	17259293
Urethral Neoplasms	Associate	29312470
Urinary Bladder Neoplasms	Inhibit	10944603
Urinary Bladder Neoplasms	Associate	34650035
Urogenital Abnormalities	Associate	33076988
Vulvar Neoplasms	Inhibit	23580324
Wilms Tumor	Associate	16909133
Wolcott Rallison syndrome	Associate	25057881