HHAT (hedgehog acyltransferase)

Gene

• Entrez ID: 55733
• Gene name: Hedgehog acyltransferase
• Gene symbol: HHAT
• Synonyms (NCBI Gene): MART2, NNMS, SKI1, Skn
• Disease Acronyms (UniProt): NNMS
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: `Skinny hedgehog` (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of `hedgehog` (see MIM 600725).[supplied by OMIM, Jul 2002]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1340611668	A>G,T	Likely-pathogenic	Intron variant, initiator codon variant, coding sequence variant, missense variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016338	hsa-miR-193b-3p	Microarray	20304954
MIRT023266	hsa-miR-122-5p	Microarray	17612493
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657445	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT657444	hsa-miR-4663	HITS-CLIP	23824327
MIRT657442	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT657443	hsa-miR-8077	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657445	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT637006	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT657444	hsa-miR-4663	HITS-CLIP	23824327
MIRT657442	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT657443	hsa-miR-8077	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637006	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT439160	hsa-let-7c-5p	3'LIFE	25074381
MIRT439127	hsa-miR-10b-5p	3'LIFE	25074381
MIRT439160	hsa-let-7c-5p	3'LIFE	25074381
MIRT439127	hsa-miR-10b-5p	3'LIFE	25074381
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657445	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT657444	hsa-miR-4663	HITS-CLIP	23824327
MIRT657442	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT657443	hsa-miR-8077	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT657445	hsa-miR-93-3p	HITS-CLIP	23824327
MIRT637006	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT657444	hsa-miR-4663	HITS-CLIP	23824327
MIRT657442	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT657443	hsa-miR-8077	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT637006	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT623707	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT623706	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT623705	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT623704	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT623703	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT623702	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT623701	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT1044989	hsa-miR-193a-3p	CLIP-seq
MIRT1044990	hsa-miR-193b	CLIP-seq
MIRT1044991	hsa-miR-3161	CLIP-seq
MIRT1044992	hsa-miR-3176	CLIP-seq
MIRT1044993	hsa-miR-3591-3p	CLIP-seq
MIRT1044994	hsa-miR-3922-3p	CLIP-seq
MIRT1044995	hsa-miR-4257	CLIP-seq
MIRT1044996	hsa-miR-122	CLIP-seq
MIRT1044997	hsa-miR-188-5p	CLIP-seq
MIRT1044998	hsa-miR-3690	CLIP-seq
MIRT1044999	hsa-miR-4254	CLIP-seq
MIRT1045000	hsa-miR-485-5p	CLIP-seq
MIRT1045001	hsa-miR-877	CLIP-seq
MIRT1044996	hsa-miR-122	CLIP-seq
MIRT2009851	hsa-miR-216a	CLIP-seq
MIRT2009852	hsa-miR-2276	CLIP-seq
MIRT2009853	hsa-miR-3152-5p	CLIP-seq
MIRT2009854	hsa-miR-338-3p	CLIP-seq
MIRT2009855	hsa-miR-3612	CLIP-seq
MIRT1044998	hsa-miR-3690	CLIP-seq
MIRT1044999	hsa-miR-4254	CLIP-seq
MIRT2009856	hsa-miR-4312	CLIP-seq
MIRT2009857	hsa-miR-432	CLIP-seq
MIRT2009858	hsa-miR-4330	CLIP-seq
MIRT2009859	hsa-miR-4432	CLIP-seq
MIRT2009860	hsa-miR-4443	CLIP-seq
MIRT2009861	hsa-miR-4762-5p	CLIP-seq
MIRT2009862	hsa-miR-4772-3p	CLIP-seq
MIRT2009863	hsa-miR-4774-3p	CLIP-seq
MIRT2009864	hsa-miR-4799-5p	CLIP-seq
MIRT1045000	hsa-miR-485-5p	CLIP-seq
MIRT2009865	hsa-miR-508-5p	CLIP-seq
MIRT2009866	hsa-miR-650	CLIP-seq
MIRT1045001	hsa-miR-877	CLIP-seq
MIRT2009867	hsa-miR-942	CLIP-seq
MIRT1044996	hsa-miR-122	CLIP-seq
MIRT1044998	hsa-miR-3690	CLIP-seq
MIRT1044999	hsa-miR-4254	CLIP-seq
MIRT1045000	hsa-miR-485-5p	CLIP-seq
MIRT1045001	hsa-miR-877	CLIP-seq
MIRT2451177	hsa-miR-1205	CLIP-seq
MIRT2451178	hsa-miR-1252	CLIP-seq
MIRT2451179	hsa-miR-1265	CLIP-seq
MIRT2451180	hsa-miR-1286	CLIP-seq
MIRT2451181	hsa-miR-217	CLIP-seq
MIRT2451182	hsa-miR-3173-3p	CLIP-seq
MIRT2451183	hsa-miR-4418	CLIP-seq
MIRT2451184	hsa-miR-4469	CLIP-seq
MIRT2451185	hsa-miR-4494	CLIP-seq
MIRT2451186	hsa-miR-4704-3p	CLIP-seq
MIRT2451187	hsa-miR-4722-5p	CLIP-seq
MIRT2451188	hsa-miR-4764-5p	CLIP-seq
MIRT2451189	hsa-miR-499a-5p	CLIP-seq
MIRT2451190	hsa-miR-509-3-5p	CLIP-seq
MIRT2451191	hsa-miR-509-5p	CLIP-seq
MIRT2545838	hsa-miR-1244	CLIP-seq
MIRT2545839	hsa-miR-1273f	CLIP-seq
MIRT2545840	hsa-miR-1323	CLIP-seq
MIRT2545841	hsa-miR-143	CLIP-seq
MIRT2545842	hsa-miR-1976	CLIP-seq
MIRT2545843	hsa-miR-2115	CLIP-seq
MIRT2545844	hsa-miR-2467-5p	CLIP-seq
MIRT2545845	hsa-miR-3149	CLIP-seq
MIRT2545846	hsa-miR-3188	CLIP-seq
MIRT2545847	hsa-miR-3613-5p	CLIP-seq
MIRT2545848	hsa-miR-3670	CLIP-seq
MIRT2545849	hsa-miR-371b-5p	CLIP-seq
MIRT2545850	hsa-miR-3973	CLIP-seq
MIRT2545851	hsa-miR-3975	CLIP-seq
MIRT2545852	hsa-miR-410	CLIP-seq
MIRT2545853	hsa-miR-4279	CLIP-seq
MIRT2545854	hsa-miR-4649-3p	CLIP-seq
MIRT2545855	hsa-miR-4694-3p	CLIP-seq
MIRT2545856	hsa-miR-4708-5p	CLIP-seq
MIRT2545857	hsa-miR-4770	CLIP-seq
MIRT2545858	hsa-miR-4775	CLIP-seq
MIRT1045000	hsa-miR-485-5p	CLIP-seq
MIRT2545859	hsa-miR-486-5p	CLIP-seq
MIRT2545860	hsa-miR-522	CLIP-seq
MIRT2545861	hsa-miR-548o	CLIP-seq
MIRT2545862	hsa-miR-549	CLIP-seq
MIRT2545863	hsa-miR-568	CLIP-seq
MIRT2545864	hsa-miR-593	CLIP-seq
MIRT2545865	hsa-miR-7	CLIP-seq
MIRT2545866	hsa-miR-890	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007275	Process	Multicellular organism development	IEA
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016409	Function	Palmitoyltransferase activity	IBA	21873635
GO:0016746	Function	Transferase activity, transferring acyl groups	IBA	21873635
GO:0018345	Process	Protein palmitoylation	IBA	21873635

Other IDs

• MIM: 605743
• HGNC: 18270
• e!Ensembl: ENSG00000054392

Protein

• UniProt ID: Q5VTY9
• Protein name: Protein-cysteine N-palmitoyltransferase HHAT (EC 2.3.1.-) (Hedgehog acyltransferase) (Melanoma antigen recognized by T-cells 2) (MART-2) (Skinny hedgehog protein 1)
• Protein function: Palmitoyl acyltransferase that catalyzes N-terminal palmitoylation of SHH; which is required for SHH signaling (PubMed:18534984, PubMed:24784881, PubMed:31875564). It also catalyzes N-terminal palmitoylation of DHH (PubMed:24784881). Promotes th
• PDB: 6P64, 6UJO, 6UJQ, 6UK2, 6UK4, 7MHY, 7MHZ, 7Q1U, 7Q6Z, 7URF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03062	MBOAT	125 → 442	MBOAT, membrane-bound O-acyltransferase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed in fetal ovary and testis, with high levels of expression observed in Sertoli cells (PubMed:24784881). {ECO:0000269|PubMed:11160356, ECO:0000269|PubMed:24784881}.
• Sequence:

  MLPRWELALYLLASLGFHFYSFYEVYKVSREHEEELDQEFELETDTLFGGLKKDATDFEW
  SFWMEWGKQWLVWLLLGHMVVSQMATLLARKHRPWILMLYGMWACWCVLGTPGVAMVLLH
  TTISFCVAQFRSQLLTWLCSLLLLSTLRLQGVEEVKRRWYKTENEYYLLQFTLTVRCLYY
  TSFSLELCWQQLPAASTSYSFPWMLAYVFYYPVLHNGPILSFSEFIKQMQQQEHDSLKAS
  LCVLALGLGRLLCWWWLAELMAHLMYMHAIYSSIPLLETVSCWTLGGLALAQVLFFYVKY
  LVLFGVPALLMRLDGLTPPALPRCVSTMFSFTGMWRYFDVGLHNFLIRYVYIPVGGSQHG
  LLGTLFSTAMTFAFVSYWHGGYDYLWCWAALNWLGVTVENGVRRLVETPCIQDSLARYFS
  PQARRRFHAALASCSTSMLILSNLVFLGGNEVGKTYWNRIFIQGWPWVTLSVLGFLYCYS
  HVGIAWAQTYATD

• Sequence length: 493

Pathways

KEGG:

Hedgehog signaling pathway

Reactome:

Hedgehog ligand biogenesis
HHAT G278V abrogates palmitoylation of Hh-Np

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Gastrointestinal stromal tumor	Gastrointestinal Stromal Tumors, Gastrointestinal Stromal Sarcoma	rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331	27793025
Mental retardation	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
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	15075292, 24784881, 18534984, 23055936
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	23142968

Unknown
Disease term	Disease name	Evidence	References	Source
Chondrodysplasia-pseudohermaphroditism syndrome	Nivelon Nivelon Mabille syndrome		24784881	ClinVar
Pseudohermaphroditism	chondrodysplasia-pseudohermaphroditism syndrome			GenCC
Coronary artery disease	Coronary artery disease			GWAS
Ankylosing Spondylitis	Ankylosing Spondylitis			GWAS
Hyperopia	Hyperopia			GWAS
Ischemic Stroke	Ischemic Stroke			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
46 XX Testicular Disorders of Sex Development	Associate	38521400
46 XY female	Associate	36303863
Anonychia onychodystrophy with hypoplasia or absence of distal phalanges	Associate	36303863
Breast Neoplasms	Associate	21525338, 25889650
Chromosome Disorders	Associate	36631813
Cleft Palate	Associate	34382870
Congenital Abnormalities	Associate	33749989
Diabetes Mellitus Type 2	Associate	21423737
Disorder of Sex Development 46 XY	Associate	36631813
Eye Abnormalities	Associate	36303863
Gonadal Dysgenesis	Associate	36303863
Microcephaly	Associate	36303863
Neoplasms	Associate	21525338
Obesity	Associate	21423737