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DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit)

Gene

1650

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

DDOST

AGER1, CDG1R, GATD6, OKSWcl45, OST, OST48, WBP1

1p36.12

This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-pur

Show/Hide all(2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906831	C>T	Pathogenic	Coding sequence variant, missense variant
rs867045420	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(302)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004128	hsa-miR-192-5p	Microarray	16822819
MIRT047928	hsa-miR-30c-5p	CLASH	23622248
MIRT046554	hsa-let-7i-5p	CLASH	23622248
MIRT042867	hsa-miR-324-3p	CLASH	23622248
MIRT440839	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440839	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	27292025
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929426	hsa-miR-1304	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT929433	hsa-miR-3616-3p	CLIP-seq
MIRT929434	hsa-miR-3672	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929439	hsa-miR-4315	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT929442	hsa-miR-4670-3p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT929445	hsa-miR-4790-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929447	hsa-miR-4797-5p	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929452	hsa-miR-720	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929455	hsa-miR-924	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT1975208	hsa-miR-432	CLIP-seq
MIRT1975209	hsa-miR-4320	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT1975210	hsa-miR-4537	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT1975214	hsa-miR-4763-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT1975215	hsa-miR-532-5p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929434	hsa-miR-3672	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929447	hsa-miR-4797-5p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929455	hsa-miR-924	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT2514527	hsa-miR-1251	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2514528	hsa-miR-129-5p	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT2514529	hsa-miR-147b	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT2514530	hsa-miR-3148	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2514531	hsa-miR-3973	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2514532	hsa-miR-4496	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT2514533	hsa-miR-4667-3p	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT2514534	hsa-miR-4735-5p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT2514535	hsa-miR-4775	CLIP-seq
MIRT2514536	hsa-miR-4796-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2514537	hsa-miR-502-5p	CLIP-seq
MIRT2514538	hsa-miR-520g	CLIP-seq
MIRT2514539	hsa-miR-520h	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2514540	hsa-miR-548ae	CLIP-seq
MIRT2514541	hsa-miR-548aj	CLIP-seq
MIRT2514542	hsa-miR-548am	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT2514543	hsa-miR-548x	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT2514544	hsa-miR-590-3p	CLIP-seq
MIRT2514545	hsa-miR-658	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT2514527	hsa-miR-1251	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2514528	hsa-miR-129-5p	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT2514529	hsa-miR-147b	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT2514530	hsa-miR-3148	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2679141	hsa-miR-3943	CLIP-seq
MIRT2514531	hsa-miR-3973	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT1975208	hsa-miR-432	CLIP-seq
MIRT1975209	hsa-miR-4320	CLIP-seq
MIRT2679142	hsa-miR-4323	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2514532	hsa-miR-4496	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT2514533	hsa-miR-4667-3p	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT2514534	hsa-miR-4735-5p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT2514535	hsa-miR-4775	CLIP-seq
MIRT2514536	hsa-miR-4796-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2514537	hsa-miR-502-5p	CLIP-seq
MIRT2514538	hsa-miR-520g	CLIP-seq
MIRT2514539	hsa-miR-520h	CLIP-seq
MIRT1975215	hsa-miR-532-5p	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2514540	hsa-miR-548ae	CLIP-seq
MIRT2514541	hsa-miR-548aj	CLIP-seq
MIRT2514542	hsa-miR-548am	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT2514543	hsa-miR-548x	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT2514544	hsa-miR-590-3p	CLIP-seq
MIRT2514545	hsa-miR-658	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21903422, 29765154
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006486	Process	Protein glycosylation	ISS
GO:0006487	Process	Protein N-linked glycosylation	IDA	9642163
GO:0006487	Process	Protein N-linked glycosylation	IMP	22467853
GO:0008047	Function	Enzyme activator activity	IMP	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IBA	21873635
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	9642163, 22467853
GO:0008250	Component	Oligosaccharyltransferase complex	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA	21873635
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IC	15835887
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0031647	Process	Regulation of protein stability	IMP	22467853
GO:0034097	Process	Response to cytokine	IDA	9642163
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0042110	Process	T cell activation	IDA	9642163
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9642163
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0050790	Process	Regulation of catalytic activity	IEA

MIM	HGNC	e!Ensembl
602202	2728	ENSG00000244038

Protein

UniProt ID

P39656

Protein name

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (DDOST 48 kDa subunit) (Oligosaccharyl transferase 48 kDa subunit)

Protein function

Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr

PDB

6S7O , 6S7T , 8B6L , 8PN9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03345	DDOST_48kD	47 → 456	Oligosaccharyltransferase 48 kDa subunit beta	Family

Sequence

MGYFRCARAGSFGRRRKMEPSTAARAWALFWLLLPLLGAVCASGPRTLVLLDNLNVRETH
SLFFRSLKDRGFELTFKTADDPSLSLIKYGEFLYDNLIIFSPSVEDFGGNINVETISAFI
DGGGSVLVAASSDIGDPLRELGSECGIEFDEEKTAVIDHHNYDISDLGQHTLIVADTENL
LKAPTIVGKSSLNPILFRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAVGKN
TLLIAGLQARNNARVIFSGSLDFFSDSFFNSAVQKAAPGSQRYSQTGNYELAVALSRWVF
KEEGVLRVGPVSHHRVGETAPPNAYTVTDLVEYSIVIQQLSNGKWVPFDGDDIQLEFVRI
DPFVRTFLKKKGGKYSVQFKLPDVYGVFQFKVDYNRLGYTHLYSSTQVSVRPLQHTQYER
FIPSAYPYYASAFSMMLGLFIFSIVFLHMKEKEKSD

Sequence length

456

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum		Asparagine N-linked glycosylation Neutrophil degranulation

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Congenital disorder of glycosylation	Congenital disorder of glycosylation type 1r, DDOST-CDG	rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406, rs387907202, rs387907203, rs397515327, rs398124348, rs374928784, rs398124401, rs587777114, rs587777115, rs587777116, rs752922461, rs794727073, rs797044712, rs765191836, rs376663459, rs778210210, rs864309659, rs869025583, rs751325113, rs369160589, rs1085307116, rs1085307117, rs746019074, rs1135401817, rs773281248, rs1555575860, rs753780084, rs1553121545, rs764831063, rs1185483085, rs867045420, rs1554464495, rs1460811017, rs1297536872, rs1555388034, rs1334593208, rs1555493029, rs1555497604, rs1031719032, rs768656482, rs937887233, rs1272097668, rs1569508922, rs1048764460, rs373260156, rs1569547876, rs1563018529, rs777937112, rs1231928102, rs1584977236, rs1582461023, rs1422285851, rs139624629, rs1597225261, rs763516132, rs200605408, rs1596252105, rs1596252196, rs121908340, rs1596256204, rs553396382, rs1180515976, rs1299775990, rs1596261161, rs1596261208, rs1428414601, rs1596261268, rs16835020, rs1270276368, rs373355236, rs1582477100, rs747606976, rs2049726544, rs781115721, rs1926621737, rs1444255127, rs1663960324, rs1665467473, rs1431963909, rs1663959543, rs376870425	22305527
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
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Hypothyroidism	Primary Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
Blood coagulation disorders	Blood Coagulation Disorders
Dwarfism	Dwarfism
Esotropia	Esotropia
Fatty liver	Fatty Liver, Steatohepatitis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Oromotor apraxia	Oromotor apraxia
Osteopenia	Osteopenia
Speech disorders	Speech Disorders
Strabismus	Strabismus

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