AHDC1 (AT-hook DNA binding motif containing 1)

Gene

• Entrez ID: 27245
• Gene name: AT-hook DNA binding motif containing 1
• Gene symbol: AHDC1
• Synonyms (NCBI Gene): MRD25, XIGIS
• Disease Acronyms (UniProt): XIGIS
• Chromosome: 1
• Chromosome location: 1p36.11-p35.3
• Summary: This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587779766	CA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779767	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587779768	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs749294057	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs777736953	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs796065040	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065041	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065042	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs796065043	TCATCCGAATCGAGCAG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312858	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886039900	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041620	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041676	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041781	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886041920	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1013039657	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1036650716	G>A,C	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, coding sequence variant
rs1064793924	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064795000	->TTGCGGCG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1064797043	TTTT>-,TTTTT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691276	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131691609	AGAAG>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135401761	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1165205177	G>A,C	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1553157912	GG>A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158393	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553158517	CA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, inframe indel, stop gained
rs1553158679	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158807	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553158947	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553158952	CC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159009	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159175	C>AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159284	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159383	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159575	G>-	Not-provided, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159581	C>-	Not-provided, likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159753	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553159764	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553159979	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557655967	T>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1557658942	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1557667078	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571229515	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571231587	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571232632	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571234939	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571235473	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571236369	ACCT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571237925	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571240391	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571242220	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571242436	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1571244033	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041779	hsa-miR-484	CLASH	23622248
MIRT041200	hsa-miR-193b-3p	CLASH	23622248
MIRT728370	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728369	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT773561	hsa-miR-1206	CLIP-seq
MIRT773562	hsa-miR-129-5p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT773566	hsa-miR-2052	CLIP-seq
MIRT773567	hsa-miR-3184	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT773569	hsa-miR-4263	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT773571	hsa-miR-4753-3p	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT773573	hsa-miR-4799-5p	CLIP-seq
MIRT773574	hsa-miR-511	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT773576	hsa-miR-548a-3p	CLIP-seq
MIRT773577	hsa-miR-548e	CLIP-seq
MIRT773578	hsa-miR-548f	CLIP-seq
MIRT773579	hsa-miR-548g	CLIP-seq
MIRT773580	hsa-miR-576-5p	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT773583	hsa-miR-708	CLIP-seq
MIRT773584	hsa-miR-892a	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928303	hsa-miR-1184	CLIP-seq
MIRT1928304	hsa-miR-1205	CLIP-seq
MIRT1928305	hsa-miR-1273f	CLIP-seq
MIRT773562	hsa-miR-129-5p	CLIP-seq
MIRT1928306	hsa-miR-140-3p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1928307	hsa-miR-193a-5p	CLIP-seq
MIRT1928308	hsa-miR-214	CLIP-seq
MIRT1928309	hsa-miR-299-5p	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT1928311	hsa-miR-3158-5p	CLIP-seq
MIRT1928312	hsa-miR-3615	CLIP-seq
MIRT1928313	hsa-miR-3619-5p	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT1928315	hsa-miR-4284	CLIP-seq
MIRT1928316	hsa-miR-4419a	CLIP-seq
MIRT1928317	hsa-miR-4437	CLIP-seq
MIRT1928318	hsa-miR-4510	CLIP-seq
MIRT1928319	hsa-miR-4527	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1928320	hsa-miR-4651	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq
MIRT1928322	hsa-miR-4722-3p	CLIP-seq
MIRT773571	hsa-miR-4753-3p	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT1928323	hsa-miR-507	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT773576	hsa-miR-548a-3p	CLIP-seq
MIRT773577	hsa-miR-548e	CLIP-seq
MIRT773578	hsa-miR-548f	CLIP-seq
MIRT1928324	hsa-miR-557	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT1928325	hsa-miR-608	CLIP-seq
MIRT1928326	hsa-miR-657	CLIP-seq
MIRT773583	hsa-miR-708	CLIP-seq
MIRT1928327	hsa-miR-720	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928328	hsa-miR-761	CLIP-seq
MIRT1928305	hsa-miR-1273f	CLIP-seq
MIRT2169096	hsa-miR-1293	CLIP-seq
MIRT1928306	hsa-miR-140-3p	CLIP-seq
MIRT773563	hsa-miR-148a	CLIP-seq
MIRT773564	hsa-miR-148b	CLIP-seq
MIRT773565	hsa-miR-152	CLIP-seq
MIRT1545190	hsa-miR-1909	CLIP-seq
MIRT1928308	hsa-miR-214	CLIP-seq
MIRT1928309	hsa-miR-299-5p	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT2169097	hsa-miR-3150b-3p	CLIP-seq
MIRT1928313	hsa-miR-3619-5p	CLIP-seq
MIRT2169098	hsa-miR-3650	CLIP-seq
MIRT2169099	hsa-miR-3657	CLIP-seq
MIRT1545191	hsa-miR-378	CLIP-seq
MIRT1545192	hsa-miR-378b	CLIP-seq
MIRT1545193	hsa-miR-378c	CLIP-seq
MIRT1545194	hsa-miR-378d	CLIP-seq
MIRT1545195	hsa-miR-378e	CLIP-seq
MIRT1545196	hsa-miR-378f	CLIP-seq
MIRT1545197	hsa-miR-378h	CLIP-seq
MIRT1545198	hsa-miR-378i	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT773568	hsa-miR-3935	CLIP-seq
MIRT1545199	hsa-miR-422a	CLIP-seq
MIRT773570	hsa-miR-4264	CLIP-seq
MIRT1545200	hsa-miR-4283	CLIP-seq
MIRT2169100	hsa-miR-4455	CLIP-seq
MIRT2169101	hsa-miR-4483	CLIP-seq
MIRT1545201	hsa-miR-4638-3p	CLIP-seq
MIRT1928320	hsa-miR-4651	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq
MIRT2169102	hsa-miR-4669	CLIP-seq
MIRT1928322	hsa-miR-4722-3p	CLIP-seq
MIRT2169103	hsa-miR-4784	CLIP-seq
MIRT773572	hsa-miR-4797-3p	CLIP-seq
MIRT1928323	hsa-miR-507	CLIP-seq
MIRT773575	hsa-miR-513a-3p	CLIP-seq
MIRT1928324	hsa-miR-557	CLIP-seq
MIRT2169104	hsa-miR-570	CLIP-seq
MIRT773581	hsa-miR-577	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT1928325	hsa-miR-608	CLIP-seq
MIRT2169105	hsa-miR-609	CLIP-seq
MIRT1928326	hsa-miR-657	CLIP-seq
MIRT1545202	hsa-miR-760	CLIP-seq
MIRT1928328	hsa-miR-761	CLIP-seq
MIRT2169106	hsa-miR-765	CLIP-seq
MIRT773582	hsa-miR-579	CLIP-seq
MIRT2426109	hsa-miR-144	CLIP-seq
MIRT1928310	hsa-miR-300	CLIP-seq
MIRT2426110	hsa-miR-338-5p	CLIP-seq
MIRT2426111	hsa-miR-369-3p	CLIP-seq
MIRT2426112	hsa-miR-374a	CLIP-seq
MIRT2426113	hsa-miR-374b	CLIP-seq
MIRT1928314	hsa-miR-381	CLIP-seq
MIRT1928321	hsa-miR-4666-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 32814053

Other IDs

• MIM: 615790
• HGNC: 25230
• e!Ensembl: ENSG00000126705

Protein

• UniProt ID: Q5TGY3
• Protein name: Transcription factor Gibbin (AT-hook DNA-binding motif-containing protein 1)
• Protein function: Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis (PubMed:35585237). Directly binds promoter and enhancer regions and acts by maintaining local enhancer-promoter ch
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15735	DUF4683	562 → 642	Domain of unknown function (DUF4683)	Family

• Sequence:

  MRVKPQGLVVTSSAVCSSPDYLREPKYYPGGPPTPRPLLPTRPPASPPDKAFSTHAFSEN
  PRPPPRRDPSTRRPPVLAKGDDPLPPRAARPVSQARCPTPVGDGSSSRRCWDNGRVNLRP
  VVQLIDIMKDLTRLSQDLQHSGVHLDCGGLRLSRPPAPPPGDLQYSFFSSPSLANSIRSP
  EERATPHAKSERPSHPLYEPEPEPRDSPQPGQGHSPGATAAATGLPPEPEPDSTDYSELA
  DADILSELASLTCPEAQLLEAQALEPPSPEPEPQLLDPQPRFLDPQALEPLGEALELPPL
  QPLADPLGLPGLALQALDTLPDSLESQLLDPQALDPLPKLLDVPGRRLEPQQPLGHCPLA
  EPLRLDLCSPHGPPGPEGHPKYALRRTDRPKILCRRRKAGRGRKADAGPEGRLLPLPMPT
  GLVAALAEPPPPPPPPPPALPGPGPVSVPELKPESSQTPVVSTRKGKCRGVRRMVVKMAK
  IPVSLGRRNKTTYKVSSLSSSLSVEGKELGLRVSAEPTPLLKMKNNGRNVVVVFPPGEMP
  IILKRKRGRPPKNLLLGPGKPKEPAVVAAEAATVAAATMAMPEVKKRRRRKQKLASPQPS
  YAADANDSKAEYSDVLAKLAFLNRQSQCAGRCSPPRCWTPSEPESVHQAPDTQSISHFLH
  RVQGFRRRGGKAGGFGGRGGGHAAKSARCSFSDFFEGIGKKKKVVAVAAAGVGGPGLTEL
  GHPRKRGRGEVDAVTGKPKRKRRSRKNGTLFPEQVPSGPGFGEAGAEWAGDKGGGWAPHH
  GHPGGQAGRNCGFQGTEARAFASTGLESGASGRGSYYSTGAPSGQTELSQERQNLFTGYF
  RSLLDSDDSSDLLDFALSASRPESRKASGTYAGPPTSALPAQRGLATFPSRGAKASPVAV
  GSSGAGADPSFQPVLSARQTFPPGRAASYGLTPAASDCRAAETFPKLVPPPSAMARSPTT
  HPPANTYLPQYGGYGAGQSVFAPTKPFTGQDCANSKDCSFAYGSGNSLPASPSSAHSAGY
  APPPTGGPCLPPSKASFFSSSEGAPFSGSAPTPLRCDSRASTVSPGGYMVPKGTTASATS
  AASAASSSSSSFQPSPENCRQFAGASQWPFRQGYGGLDWASEAFSQLYNPSFDCHVSEPN
  VILDISNYTPQKVKQQTAVSETFSESSSDSTQFNQPVGGGGFRRANSEASSSEGQSSLSS
  LEKLMMDWNEASSAPGYNWNQSVLFQSSSKPGRGRRKKVDLFEASHLGFPTSASAAASGY
  PSKRSTGPRQPRGGRGGGACSAKKERGGAAAKAKFIPKPQPVNPLFQDSPDLGLDYYSGD
  SSMSPLPSQSRAFGVGERDPCDFIGPYSMNPSTPSDGTFGQGFHCDSPSLGAPELDGKHF
  PPLAHPPTVFDAGLQKAYSPTCSPTLGFKEELRPPPTKLAACEPLKHGLQGASLGHAAAA
  QAHLSCRDLPLGQPHYDSPSCKGTAYWYPPGSAARSPPYEGKVGTGLLADFLGRTEAACL
  SAPHLASPPATPKADKEPLEMARPPGPPRGPAAAAAGYGCPLLSDLTLSPVPRDSLLPLQ
  DTAYRYPGFMPQAHPGLGGGPKSGFLGPMAEPHPEDTFTVTSL

• Sequence length: 1603

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Metabolic syndrome	ABDOMINAL OBESITY-METABOLIC SYNDROME 3	rs367643250, rs587777380, rs777736953
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	24791903
Mental retardation	Severe intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151	24791903

Unknown
Disease term	Disease name	Evidence	References	Source
Coronary artery disease	Coronary artery disease			GWAS
Psoriasis	Psoriasis			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Pancreatic Ductal	Associate	34313325
Chronic Kidney Disease Mineral and Bone Disorder	Associate	31085678
Craniosynostoses	Associate	27884935
Developmental Disabilities	Associate	35636160
Dwarfism Pituitary	Associate	30729726
Epilepsy	Associate	35636160
Gardner Syndrome	Associate	36054313
Genetic Diseases Inborn	Associate	24791903
Hypersensitivity Delayed	Associate	33644933
Intellectual Disability	Associate	31085678
Language Development Disorders	Associate	24791903
Lennox Gastaut Syndrome	Associate	35636160
Mental Retardation Autosomal Dominant 3	Associate	30729726
Muscle Hypertonia	Associate	33644933
Muscle Hypotonia	Associate	24791903, 33644933, 35636160
Scoliosis	Associate	33644933
Seizures	Associate	33644933, 35636160
Sleep Apnea Obstructive	Associate	31737670
Sleep Apnea Syndromes	Associate	24791903, 35636160
Speech Disorders	Associate	35636160
Uterine Cervical Neoplasms	Associate	31390932
Vision Disorders	Associate	26350515