PGAP2 (post-GPI attachment to proteins 2)

Gene

• Entrez ID: 27315
• Gene name: Post-GPI attachment to proteins 2
• Gene symbol: PGAP2
• Synonyms (NCBI Gene): CWH43-N, FRAG1, HPMRS3, MRT17, MRT21
• Disease Acronyms (UniProt): HPMRS3
• Chromosome: 11
• Chromosome location: 11p15.4
• Summary: The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intel

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776970	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs747658866	C>T	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs752346360	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, synonymous variant, missense variant
rs773359554	C>T	Pathogenic	Intron variant, genic upstream transcript variant, non coding transcript variant, synonymous variant, missense variant, coding sequence variant, 5 prime UTR variant
rs774843232	G>A,C,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs879255232	A>G	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs879255233	T>C	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1590215915	T>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, initiator codon variant, missense variant, intron variant
rs1590414630	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant, intron variant
rs1590416370	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant, synonymous variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT439993	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439993	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1227114	hsa-miR-101	CLIP-seq
MIRT1227115	hsa-miR-1224-5p	CLIP-seq
MIRT1227116	hsa-miR-1253	CLIP-seq
MIRT1227117	hsa-miR-1254	CLIP-seq
MIRT1227118	hsa-miR-1266	CLIP-seq
MIRT1227119	hsa-miR-1304	CLIP-seq
MIRT1227120	hsa-miR-144	CLIP-seq
MIRT1227121	hsa-miR-296-3p	CLIP-seq
MIRT1227122	hsa-miR-3116	CLIP-seq
MIRT1227123	hsa-miR-3664-3p	CLIP-seq
MIRT1227124	hsa-miR-3915	CLIP-seq
MIRT1227125	hsa-miR-3942-3p	CLIP-seq
MIRT1227126	hsa-miR-4260	CLIP-seq
MIRT1227127	hsa-miR-4270	CLIP-seq
MIRT1227128	hsa-miR-4441	CLIP-seq
MIRT1227129	hsa-miR-4518	CLIP-seq
MIRT1227130	hsa-miR-4650-5p	CLIP-seq
MIRT1227131	hsa-miR-4689	CLIP-seq
MIRT1227132	hsa-miR-4751	CLIP-seq
MIRT1227133	hsa-miR-4757-5p	CLIP-seq
MIRT1227134	hsa-miR-4764-5p	CLIP-seq
MIRT1227135	hsa-miR-4768-3p	CLIP-seq
MIRT1227136	hsa-miR-548m	CLIP-seq
MIRT1227137	hsa-miR-582-5p	CLIP-seq
MIRT1227138	hsa-miR-635	CLIP-seq
MIRT1227139	hsa-miR-7	CLIP-seq
MIRT1227140	hsa-miR-936	CLIP-seq
MIRT2066552	hsa-miR-1245b-3p	CLIP-seq
MIRT2066553	hsa-miR-2110	CLIP-seq
MIRT2066554	hsa-miR-24	CLIP-seq
MIRT2066555	hsa-miR-2909	CLIP-seq
MIRT1227121	hsa-miR-296-3p	CLIP-seq
MIRT2066556	hsa-miR-3202	CLIP-seq
MIRT1227127	hsa-miR-4270	CLIP-seq
MIRT2066557	hsa-miR-4271	CLIP-seq
MIRT2066558	hsa-miR-4330	CLIP-seq
MIRT1227128	hsa-miR-4441	CLIP-seq
MIRT2066559	hsa-miR-4651	CLIP-seq
MIRT2066560	hsa-miR-4725-3p	CLIP-seq
MIRT2066561	hsa-miR-4747-5p	CLIP-seq
MIRT1227135	hsa-miR-4768-3p	CLIP-seq
MIRT2066562	hsa-miR-608	CLIP-seq
MIRT1227139	hsa-miR-7	CLIP-seq
MIRT1227118	hsa-miR-1266	CLIP-seq
MIRT1227121	hsa-miR-296-3p	CLIP-seq
MIRT2293918	hsa-miR-29a	CLIP-seq
MIRT2293919	hsa-miR-29b	CLIP-seq
MIRT2293920	hsa-miR-29c	CLIP-seq
MIRT2293921	hsa-miR-3165	CLIP-seq
MIRT2293922	hsa-miR-3189-3p	CLIP-seq
MIRT1227123	hsa-miR-3664-3p	CLIP-seq
MIRT2293923	hsa-miR-3978	CLIP-seq
MIRT2293924	hsa-miR-4258	CLIP-seq
MIRT1227127	hsa-miR-4270	CLIP-seq
MIRT1227128	hsa-miR-4441	CLIP-seq
MIRT2293925	hsa-miR-4451	CLIP-seq
MIRT1227129	hsa-miR-4518	CLIP-seq
MIRT2293926	hsa-miR-455-3p	CLIP-seq
MIRT1227133	hsa-miR-4757-5p	CLIP-seq
MIRT1227135	hsa-miR-4768-3p	CLIP-seq
MIRT2293927	hsa-miR-485-3p	CLIP-seq
MIRT2293928	hsa-miR-487a	CLIP-seq
MIRT2293929	hsa-miR-522	CLIP-seq
MIRT1227136	hsa-miR-548m	CLIP-seq
MIRT1227139	hsa-miR-7	CLIP-seq
MIRT1227140	hsa-miR-936	CLIP-seq
MIRT2392431	hsa-miR-1299	CLIP-seq
MIRT2392432	hsa-miR-4782-5p	CLIP-seq
MIRT2392433	hsa-miR-516b	CLIP-seq
MIRT2456284	hsa-miR-3591-3p	CLIP-seq
MIRT2456285	hsa-miR-4773	CLIP-seq
MIRT2592026	hsa-miR-1193	CLIP-seq
MIRT2592027	hsa-miR-1243	CLIP-seq
MIRT1227116	hsa-miR-1253	CLIP-seq
MIRT1227118	hsa-miR-1266	CLIP-seq
MIRT2592028	hsa-miR-1273g	CLIP-seq
MIRT2592029	hsa-miR-1283	CLIP-seq
MIRT2392431	hsa-miR-1299	CLIP-seq
MIRT2592030	hsa-miR-134	CLIP-seq
MIRT2592031	hsa-miR-138	CLIP-seq
MIRT2592032	hsa-miR-1973	CLIP-seq
MIRT2592033	hsa-miR-2467-3p	CLIP-seq
MIRT2592034	hsa-miR-3118	CLIP-seq
MIRT2592035	hsa-miR-3121-5p	CLIP-seq
MIRT2592036	hsa-miR-3173-3p	CLIP-seq
MIRT2592037	hsa-miR-323-5p	CLIP-seq
MIRT2592038	hsa-miR-323b-5p	CLIP-seq
MIRT2592039	hsa-miR-331-5p	CLIP-seq
MIRT2592040	hsa-miR-3618	CLIP-seq
MIRT2592041	hsa-miR-3678-3p	CLIP-seq
MIRT2592042	hsa-miR-3907	CLIP-seq
MIRT2592043	hsa-miR-3919	CLIP-seq
MIRT1227125	hsa-miR-3942-3p	CLIP-seq
MIRT2592044	hsa-miR-4252	CLIP-seq
MIRT1227127	hsa-miR-4270	CLIP-seq
MIRT2592045	hsa-miR-4276	CLIP-seq
MIRT2592046	hsa-miR-4283	CLIP-seq
MIRT1227128	hsa-miR-4441	CLIP-seq
MIRT2592047	hsa-miR-4484	CLIP-seq
MIRT2592048	hsa-miR-450b-5p	CLIP-seq
MIRT1227129	hsa-miR-4518	CLIP-seq
MIRT2592049	hsa-miR-4678	CLIP-seq
MIRT2592050	hsa-miR-4687-3p	CLIP-seq
MIRT2592051	hsa-miR-4691-3p	CLIP-seq
MIRT2592052	hsa-miR-4728-5p	CLIP-seq
MIRT2592053	hsa-miR-4733-5p	CLIP-seq
MIRT2592054	hsa-miR-4738-3p	CLIP-seq
MIRT2592055	hsa-miR-4753-5p	CLIP-seq
MIRT2592056	hsa-miR-4779	CLIP-seq
MIRT2392432	hsa-miR-4782-5p	CLIP-seq
MIRT2592057	hsa-miR-4793-5p	CLIP-seq
MIRT2592058	hsa-miR-488	CLIP-seq
MIRT2592059	hsa-miR-501-5p	CLIP-seq
MIRT2392433	hsa-miR-516b	CLIP-seq
MIRT2592060	hsa-miR-518a-5p	CLIP-seq
MIRT2592061	hsa-miR-527	CLIP-seq
MIRT2592062	hsa-miR-539	CLIP-seq
MIRT2592063	hsa-miR-548an	CLIP-seq
MIRT2592064	hsa-miR-548q	CLIP-seq
MIRT2592065	hsa-miR-767-3p	CLIP-seq
MIRT2592066	hsa-miR-876-3p	CLIP-seq
MIRT2592067	hsa-miR-892a	CLIP-seq
MIRT2592068	hsa-miR-943	CLIP-seq
MIRT1227116	hsa-miR-1253	CLIP-seq
MIRT1227118	hsa-miR-1266	CLIP-seq
MIRT2592028	hsa-miR-1273g	CLIP-seq
MIRT2592029	hsa-miR-1283	CLIP-seq
MIRT2392431	hsa-miR-1299	CLIP-seq
MIRT2592030	hsa-miR-134	CLIP-seq
MIRT2592031	hsa-miR-138	CLIP-seq
MIRT2592032	hsa-miR-1973	CLIP-seq
MIRT2592033	hsa-miR-2467-3p	CLIP-seq
MIRT2592034	hsa-miR-3118	CLIP-seq
MIRT2592035	hsa-miR-3121-5p	CLIP-seq
MIRT2592036	hsa-miR-3173-3p	CLIP-seq
MIRT2592038	hsa-miR-323b-5p	CLIP-seq
MIRT2592040	hsa-miR-3618	CLIP-seq
MIRT2592041	hsa-miR-3678-3p	CLIP-seq
MIRT2592042	hsa-miR-3907	CLIP-seq
MIRT2592043	hsa-miR-3919	CLIP-seq
MIRT1227125	hsa-miR-3942-3p	CLIP-seq
MIRT2592044	hsa-miR-4252	CLIP-seq
MIRT1227127	hsa-miR-4270	CLIP-seq
MIRT2592045	hsa-miR-4276	CLIP-seq
MIRT2592046	hsa-miR-4283	CLIP-seq
MIRT1227128	hsa-miR-4441	CLIP-seq
MIRT2592047	hsa-miR-4484	CLIP-seq
MIRT2592048	hsa-miR-450b-5p	CLIP-seq
MIRT1227129	hsa-miR-4518	CLIP-seq
MIRT2592050	hsa-miR-4687-3p	CLIP-seq
MIRT2592051	hsa-miR-4691-3p	CLIP-seq
MIRT2592052	hsa-miR-4728-5p	CLIP-seq
MIRT2592053	hsa-miR-4733-5p	CLIP-seq
MIRT2592055	hsa-miR-4753-5p	CLIP-seq
MIRT2592056	hsa-miR-4779	CLIP-seq
MIRT2392432	hsa-miR-4782-5p	CLIP-seq
MIRT2592058	hsa-miR-488	CLIP-seq
MIRT2392433	hsa-miR-516b	CLIP-seq
MIRT2592060	hsa-miR-518a-5p	CLIP-seq
MIRT2592061	hsa-miR-527	CLIP-seq
MIRT2592062	hsa-miR-539	CLIP-seq
MIRT2592063	hsa-miR-548an	CLIP-seq
MIRT2592064	hsa-miR-548q	CLIP-seq
MIRT2592065	hsa-miR-767-3p	CLIP-seq
MIRT2592067	hsa-miR-892a	CLIP-seq
MIRT2592068	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 26871637
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0006506	Process	GPI anchor biosynthetic process	IBA	21873635
GO:0006506	Process	GPI anchor biosynthetic process	IMP	29374258
GO:0006506	Process	GPI anchor biosynthetic process	ISS
GO:0016021	Component	Integral component of membrane	IEA

Other IDs

• MIM: 615187
• HGNC: 17893
• e!Ensembl: ENSG00000148985

Protein

• UniProt ID: Q9UHJ9
• Protein name: Acyltransferase PGAP2 (EC 2.3.-.-) (FGF receptor-activating protein 1) (Post-GPI attachment to proteins factor 2)
• Protein function: Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain. May catalyze the second step of the fatty acid remodeling, by reacylat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10277	Frag1	18 → 241	Frag1/DRAM/Sfk1 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in testis and pancreas. {ECO:0000269|PubMed:10585768}.
• Sequence:

  MYQVPLPLDRDGTLVRLRFTMVALVTVCCPLVAFLFCILWSLLFHFKETTATHCGVPNYL
  PSVSSAIGGEVPQRYVWRFCIGLHSAPRFLVAFAYWNHYLSCTSPCSCYRPLCRLNFGLN
  VVENLALLVLTYVSSSEDFTIHENAFIVFIASSLGHMLLTCILWRLTKKHTVSQEDRKSY
  SWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTIFAILEYTVVLTNMAFHMTAWWDFGN
  KELLITSQPEEKRF

• Sequence length: 254

Pathways

KEGG:

Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542
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
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Hyperphosphatasia with mental retardation	Hyperphosphatasia with Mental Retardation, Hyperphosphatasia-intellectual disability syndrome	rs139073416, rs267606951, rs267606952, rs387907023, rs142164373, rs770591449, rs368953604, rs879255232, rs774843232, rs773359554, rs587776970, rs587777251, rs587777252, rs371549948, rs587777733, rs869025322, rs869025323, rs869312813, rs869312814, rs869312817, rs200598755, rs869312816, rs869312815, rs869312812, rs202146344, rs774508288, rs144574243, rs1064795758, rs375682284, rs755750516, rs1256773607, rs1555610292, rs1242562412, rs1567871748, rs1555610241, rs759988046, rs1563996824, rs1563998317, rs751086453, rs760848629, rs1391418639, rs776720232, rs1199247059, rs763591247, rs752346360, rs1587166550, rs1247927038, rs1587176440, rs763992668, rs1587178357, rs1587159769, rs1587167234, rs1587162510, rs1590215915, rs759541820, rs1590416370, rs1590414630, rs747658866, rs1657564568, rs149690056	23561847, 23561846
Mental retardation	Severe intellectual disability, Moderate intellectual disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17, 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	27604308, 23561847, 23561846
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease term	Disease name	Evidence	References	Source
Hyperphosphatasia With Mental Retardation	hyperphosphatasia with intellectual disability syndrome 3, hyperphosphatasia-intellectual disability syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Multiple	Associate	30813920
Berk Tabatznik syndrome	Associate	24129430
Daneman Davy Mancer syndrome	Associate	40225942
Developmental Disabilities	Associate	40225942
Hyperostosis corticalis deformans juvenilis	Associate	24129430, 29119105, 30813920, 40225942
Hyperphosphatasia with Mental Retardation	Associate	23561847, 24129430, 24417746, 30813920
Intellectual Disability	Associate	29119105, 30813920
Learning Disabilities	Associate	29119105
Megalencephaly	Associate	40225942