PTDSS1 (phosphatidylserine synthase 1)

Gene

• Entrez ID: 9791
• Gene name: Phosphatidylserine synthase 1
• Gene symbol: PTDSS1
• Synonyms (NCBI Gene): LMHD, PSS1, PSSA
• Disease Acronyms (UniProt): LMHD, PSS1
• Chromosome: 8
• Chromosome location: 8q22.1
• Summary: The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777088	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777089	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777090	T>C	Pathogenic	Missense variant, coding sequence variant
rs1057521718	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037324	hsa-miR-877-5p	CLASH	23622248
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT625192	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT625191	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT625190	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT617521	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT617520	hsa-miR-4643	HITS-CLIP	23824327
MIRT617519	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT617518	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT617517	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT617516	hsa-miR-466	HITS-CLIP	23824327
MIRT617515	hsa-miR-1229-3p	HITS-CLIP	23824327
MIRT1272217	hsa-miR-106a	CLIP-seq
MIRT1272218	hsa-miR-106b	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272220	hsa-miR-17	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT1272222	hsa-miR-20a	CLIP-seq
MIRT1272223	hsa-miR-20b	CLIP-seq
MIRT1272224	hsa-miR-3609	CLIP-seq
MIRT1272225	hsa-miR-3677-5p	CLIP-seq
MIRT1272226	hsa-miR-4257	CLIP-seq
MIRT1272227	hsa-miR-4539	CLIP-seq
MIRT1272228	hsa-miR-4713-3p	CLIP-seq
MIRT1272229	hsa-miR-4796-3p	CLIP-seq
MIRT1272230	hsa-miR-519d	CLIP-seq
MIRT1272231	hsa-miR-548ah	CLIP-seq
MIRT1272232	hsa-miR-548t	CLIP-seq
MIRT1272233	hsa-miR-93	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2080031	hsa-miR-214	CLIP-seq
MIRT2080032	hsa-miR-329	CLIP-seq
MIRT2080033	hsa-miR-3619-5p	CLIP-seq
MIRT2080034	hsa-miR-362-3p	CLIP-seq
MIRT1272226	hsa-miR-4257	CLIP-seq
MIRT2080035	hsa-miR-4690-5p	CLIP-seq
MIRT1272228	hsa-miR-4713-3p	CLIP-seq
MIRT2080036	hsa-miR-761	CLIP-seq
MIRT2306336	hsa-miR-1226	CLIP-seq
MIRT2306337	hsa-miR-1245b-3p	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2306338	hsa-miR-200b	CLIP-seq
MIRT2306339	hsa-miR-200c	CLIP-seq
MIRT2306340	hsa-miR-3680	CLIP-seq
MIRT2306341	hsa-miR-4276	CLIP-seq
MIRT2306342	hsa-miR-429	CLIP-seq
MIRT2306343	hsa-miR-4318	CLIP-seq
MIRT2306344	hsa-miR-4474-3p	CLIP-seq
MIRT2306345	hsa-miR-4504	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2306347	hsa-miR-4733-3p	CLIP-seq
MIRT2306348	hsa-miR-4798-3p	CLIP-seq
MIRT2306349	hsa-miR-488	CLIP-seq
MIRT2306350	hsa-miR-545	CLIP-seq
MIRT2306351	hsa-miR-548ag	CLIP-seq
MIRT2306352	hsa-miR-548ai	CLIP-seq
MIRT2306353	hsa-miR-548m	CLIP-seq
MIRT2306354	hsa-miR-634	CLIP-seq
MIRT2306355	hsa-miR-662	CLIP-seq
MIRT1272219	hsa-miR-1257	CLIP-seq
MIRT1272221	hsa-miR-182	CLIP-seq
MIRT2393168	hsa-miR-3150a-3p	CLIP-seq
MIRT2393169	hsa-miR-3175	CLIP-seq
MIRT2393170	hsa-miR-4434	CLIP-seq
MIRT2393171	hsa-miR-4516	CLIP-seq
MIRT2393172	hsa-miR-4667-5p	CLIP-seq
MIRT2393173	hsa-miR-4700-5p	CLIP-seq
MIRT2393174	hsa-miR-4731-5p	CLIP-seq
MIRT2393175	hsa-miR-939	CLIP-seq
MIRT2603619	hsa-miR-1236	CLIP-seq
MIRT2603620	hsa-miR-1281	CLIP-seq
MIRT2603621	hsa-miR-146b-3p	CLIP-seq
MIRT2603622	hsa-miR-1914	CLIP-seq
MIRT2603623	hsa-miR-302a	CLIP-seq
MIRT2603624	hsa-miR-302b	CLIP-seq
MIRT2603625	hsa-miR-302c	CLIP-seq
MIRT2603626	hsa-miR-302d	CLIP-seq
MIRT2603627	hsa-miR-302e	CLIP-seq
MIRT2603628	hsa-miR-3074-5p	CLIP-seq
MIRT2603629	hsa-miR-3153	CLIP-seq
MIRT2603630	hsa-miR-3157-3p	CLIP-seq
MIRT2603631	hsa-miR-3173-5p	CLIP-seq
MIRT2603632	hsa-miR-3671	CLIP-seq
MIRT2603633	hsa-miR-370	CLIP-seq
MIRT2603634	hsa-miR-371-5p	CLIP-seq
MIRT2603635	hsa-miR-371b-3p	CLIP-seq
MIRT2603636	hsa-miR-371b-5p	CLIP-seq
MIRT2603637	hsa-miR-372	CLIP-seq
MIRT2603638	hsa-miR-373	CLIP-seq
MIRT2603639	hsa-miR-4261	CLIP-seq
MIRT2603640	hsa-miR-4290	CLIP-seq
MIRT2603641	hsa-miR-4327	CLIP-seq
MIRT2603642	hsa-miR-4446-5p	CLIP-seq
MIRT2603643	hsa-miR-4648	CLIP-seq
MIRT2603644	hsa-miR-4654	CLIP-seq
MIRT2603645	hsa-miR-4668-5p	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2603646	hsa-miR-4695-3p	CLIP-seq
MIRT2603647	hsa-miR-4715-3p	CLIP-seq
MIRT2603648	hsa-miR-4755-5p	CLIP-seq
MIRT2603649	hsa-miR-4769-5p	CLIP-seq
MIRT2603650	hsa-miR-512-3p	CLIP-seq
MIRT2603651	hsa-miR-520a-3p	CLIP-seq
MIRT2603652	hsa-miR-520b	CLIP-seq
MIRT2603653	hsa-miR-520c-3p	CLIP-seq
MIRT2603654	hsa-miR-520d-3p	CLIP-seq
MIRT2603655	hsa-miR-520e	CLIP-seq
MIRT2603656	hsa-miR-642a	CLIP-seq
MIRT2603657	hsa-miR-874	CLIP-seq
MIRT2603658	hsa-miR-933	CLIP-seq
MIRT2603619	hsa-miR-1236	CLIP-seq
MIRT2603620	hsa-miR-1281	CLIP-seq
MIRT2603621	hsa-miR-146b-3p	CLIP-seq
MIRT2603622	hsa-miR-1914	CLIP-seq
MIRT2603623	hsa-miR-302a	CLIP-seq
MIRT2603624	hsa-miR-302b	CLIP-seq
MIRT2603625	hsa-miR-302c	CLIP-seq
MIRT2603626	hsa-miR-302d	CLIP-seq
MIRT2603627	hsa-miR-302e	CLIP-seq
MIRT2603628	hsa-miR-3074-5p	CLIP-seq
MIRT2603629	hsa-miR-3153	CLIP-seq
MIRT2603630	hsa-miR-3157-3p	CLIP-seq
MIRT2688892	hsa-miR-3168	CLIP-seq
MIRT2603631	hsa-miR-3173-5p	CLIP-seq
MIRT2688893	hsa-miR-3622a-5p	CLIP-seq
MIRT2603632	hsa-miR-3671	CLIP-seq
MIRT2603633	hsa-miR-370	CLIP-seq
MIRT2603634	hsa-miR-371-5p	CLIP-seq
MIRT2603635	hsa-miR-371b-3p	CLIP-seq
MIRT2603636	hsa-miR-371b-5p	CLIP-seq
MIRT2603637	hsa-miR-372	CLIP-seq
MIRT2603638	hsa-miR-373	CLIP-seq
MIRT2603639	hsa-miR-4261	CLIP-seq
MIRT2688894	hsa-miR-4264	CLIP-seq
MIRT2688895	hsa-miR-4277	CLIP-seq
MIRT2603640	hsa-miR-4290	CLIP-seq
MIRT2603641	hsa-miR-4327	CLIP-seq
MIRT2688896	hsa-miR-4423-3p	CLIP-seq
MIRT2603642	hsa-miR-4446-5p	CLIP-seq
MIRT2603643	hsa-miR-4648	CLIP-seq
MIRT2603644	hsa-miR-4654	CLIP-seq
MIRT2603645	hsa-miR-4668-5p	CLIP-seq
MIRT2306346	hsa-miR-4670-3p	CLIP-seq
MIRT2603646	hsa-miR-4695-3p	CLIP-seq
MIRT2603647	hsa-miR-4715-3p	CLIP-seq
MIRT2603648	hsa-miR-4755-5p	CLIP-seq
MIRT2603649	hsa-miR-4769-5p	CLIP-seq
MIRT2688897	hsa-miR-4797-3p	CLIP-seq
MIRT2603650	hsa-miR-512-3p	CLIP-seq
MIRT2603651	hsa-miR-520a-3p	CLIP-seq
MIRT2603652	hsa-miR-520b	CLIP-seq
MIRT2603653	hsa-miR-520c-3p	CLIP-seq
MIRT2603654	hsa-miR-520d-3p	CLIP-seq
MIRT2603655	hsa-miR-520e	CLIP-seq
MIRT2603656	hsa-miR-642a	CLIP-seq
MIRT2688898	hsa-miR-645	CLIP-seq
MIRT2603657	hsa-miR-874	CLIP-seq
MIRT2603658	hsa-miR-933	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006659	Process	Phosphatidylserine biosynthetic process	IDA	19014349
GO:0006659	Process	Phosphatidylserine biosynthetic process	IEA
GO:0006659	Process	Phosphatidylserine biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016740	Function	Transferase activity	TAS
GO:0106245	Function	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IDA	19014349
GO:0106245	Function	L-serine-phosphatidylethanolamine phosphatidyltransferase activity	IMP	24241535
GO:0106258	Function	L-serine-phosphatidylcholine phosphatidyltransferase activity	IDA	19014349
GO:0106258	Function	L-serine-phosphatidylcholine phosphatidyltransferase activity	IMP	24241535

Other IDs

• MIM: 612792
• HGNC: 9587
• e!Ensembl: ENSG00000156471

Protein

• UniProt ID: P48651
• Protein name: Phosphatidylserine synthase 1 (PSS-1) (PtdSer synthase 1) (EC 2.7.8.29) (Serine-exchange enzyme I)
• Protein function: Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:19014349, PubMed:24241535). Catalyzes mainly the conversion of phosphatidylcholine (Pub
• PDB: 9B4E, 9B4F, 9B4G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03034	PSS	96 → 372	Phosphatidyl serine synthase	Family

• Sequence:

  MASCVGSRTLSKDDVNYKMHFRMINEQQVEDITIDFFYRPHTITLLSFTIVSLMYFAFTR
  DDSVPEDNIWRGILSVIFFFLIISVLAFPNGPFTRPHPALWRMVFGLSVLYFLFLVFLLF
  LNFEQVKSLMYWLDPNLRYATREADVMEYAVNCHVITWERIISHFDIFAFGHFWGWAMKA
  LLIRSYGLCWTISITWELTELFFMHLLPNFAECWWDQVILDILLCNGGGIWLGMVVCRFL
  EMRTYHWASFKDIHTTTGKIKRAVLQFTPASWTYVRWFDPKSSFQRVAGVYLFMIIWQLT
  ELNTFFLKHIFVFQASHPLSWGRILFIGGITAPTVRQYYAYLTDTQCKRVGTQCWVFGVI
  GFLEAIVCIKFGQDLFSKTQILYVVLWLLCVAFTTFLCLYGMIWYAEHYGHREKTYSECE
  DGTYSPEISWHHRKGTKGSEDSPPKHAGNNESHSSRRRNRHSKSKVTNGVGKK

• Sequence length: 473

Pathways

KEGG:

Glycerophospholipid metabolism
Metabolic pathways

Reactome:

Synthesis of PS

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322
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
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Lenz-majewski hyperostosis syndrome	Lenz Majewski hyperostotic dwarfism, Lenz-Majewski hyperostotic dwarfism	rs587777088, rs587777089, rs587777090, rs1131691429	26117586, 24241535
Macrocephaly	Macrocephaly, Relative macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Moderate 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
Osteopetrosis	Osteopetrosis	rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar
Huntington Disease	Huntington Disease			GWAS
Gout	Gout			GWAS
Diabetes	Diabetes			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Autism Spectrum Disorder	Associate	26742492
Autistic Disorder	Associate	26742492
Bone Malalignment	Associate	40524567
Cutis Laxa	Associate	40524567
Developmental Disabilities	Associate	35224839
Ear Diseases	Associate	40524567
Gait Disorders Neurologic	Associate	40524567
Lenz Majewski hyperostotic dwarfism	Associate	35224839, 38262577
Neoplasms	Associate	28753886, 35503998, 37489460
Short Rib Polydactyly Syndrome	Associate	27044099, 34516042, 37714410, 40524567