QDPR (quinoid dihydropteridine reductase)

Gene

• Entrez ID: 5860
• Gene name: Quinoid dihydropteridine reductase
• Gene symbol: QDPR
• Synonyms: DHPR, HDHPR, PKU2, SDR33C1
• Chromosome: 4
• Chromosome location: 4p15.32
• Summary: This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893863	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs104893864	A>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs104893865	A>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs104893866	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs104893867	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs750201480	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs750513275	A>C,G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs762772317	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs779997983	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1034528249	T>A,C	Pathogenic	Non coding transcript variant, initiator codon variant, missense variant
rs1171544975	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1407920390	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1577184852	T>C	Likely-pathogenic	Splice acceptor variant
rs1577191558	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1577195951	G>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025362	hsa-miR-34a-5p	Proteomics	21566225
MIRT025362	hsa-miR-34a-5p	Proteomics	21566225
MIRT029076	hsa-miR-26b-5p	Microarray	19088304
MIRT700428	hsa-miR-4717-3p	HITS-CLIP	23313552
MIRT700427	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT700426	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT700425	hsa-miR-1911-3p	HITS-CLIP	23313552
MIRT700424	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT700423	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT700422	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT700421	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT700420	hsa-miR-940	HITS-CLIP	23313552
MIRT700419	hsa-miR-3929	HITS-CLIP	23313552
MIRT700418	hsa-miR-4419b	HITS-CLIP	23313552
MIRT700417	hsa-miR-4478	HITS-CLIP	23313552
MIRT700416	hsa-miR-4514	HITS-CLIP	23313552
MIRT700415	hsa-miR-4692	HITS-CLIP	23313552
MIRT700414	hsa-miR-4645-5p	HITS-CLIP	23313552
MIRT700413	hsa-miR-4673	HITS-CLIP	23313552
MIRT700412	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT700411	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT700410	hsa-miR-1827	HITS-CLIP	23313552
MIRT700409	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT700408	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT700407	hsa-miR-298	HITS-CLIP	23313552
MIRT452422	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT700406	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT700405	hsa-miR-665	HITS-CLIP	23313552
MIRT452442	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT452441	hsa-miR-7851-3p	PAR-CLIP	23592263
MIRT452440	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT452439	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT452438	hsa-miR-648	PAR-CLIP	23592263
MIRT452437	hsa-miR-4302	PAR-CLIP	23592263
MIRT452436	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT452435	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT452434	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT452433	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT452432	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT452431	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT452430	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT452429	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT452428	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT452426	hsa-miR-4458	PAR-CLIP	23592263
MIRT452427	hsa-miR-4500	PAR-CLIP	23592263
MIRT452425	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT452424	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT452423	hsa-miR-4663	PAR-CLIP	23592263
MIRT452422	hsa-miR-7160-5p	PAR-CLIP	23592263
MIRT452421	hsa-miR-8077	PAR-CLIP	23592263
MIRT452420	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT452419	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT452417	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT452418	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT452416	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT452415	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT452414	hsa-miR-4451	PAR-CLIP	23592263
MIRT452413	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT452412	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT452411	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT452410	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT452409	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT452408	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT452407	hsa-miR-3689c	PAR-CLIP	23592263
MIRT452405	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT452406	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT700428	hsa-miR-4717-3p	HITS-CLIP	23313552
MIRT700427	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT700426	hsa-miR-4722-5p	HITS-CLIP	23313552
MIRT700425	hsa-miR-1911-3p	HITS-CLIP	23313552
MIRT700424	hsa-miR-1910-3p	HITS-CLIP	23313552
MIRT700423	hsa-miR-6511a-5p	HITS-CLIP	23313552
MIRT700422	hsa-miR-6808-5p	HITS-CLIP	23313552
MIRT700421	hsa-miR-6893-5p	HITS-CLIP	23313552
MIRT700420	hsa-miR-940	HITS-CLIP	23313552
MIRT700419	hsa-miR-3929	HITS-CLIP	23313552
MIRT700418	hsa-miR-4419b	HITS-CLIP	23313552
MIRT700417	hsa-miR-4478	HITS-CLIP	23313552
MIRT700416	hsa-miR-4514	HITS-CLIP	23313552
MIRT700415	hsa-miR-4692	HITS-CLIP	23313552
MIRT700414	hsa-miR-4645-5p	HITS-CLIP	23313552
MIRT700413	hsa-miR-4673	HITS-CLIP	23313552
MIRT700412	hsa-miR-6746-5p	HITS-CLIP	23313552
MIRT700411	hsa-miR-4649-3p	HITS-CLIP	23313552
MIRT700410	hsa-miR-1827	HITS-CLIP	23313552
MIRT700409	hsa-miR-485-5p	HITS-CLIP	23313552
MIRT700408	hsa-miR-6884-5p	HITS-CLIP	23313552
MIRT700407	hsa-miR-298	HITS-CLIP	23313552
MIRT452422	hsa-miR-7160-5p	HITS-CLIP	23313552
MIRT700406	hsa-miR-6771-5p	HITS-CLIP	23313552
MIRT700405	hsa-miR-665	HITS-CLIP	23313552
MIRT452442	hsa-miR-490-3p	PAR-CLIP	23592263
MIRT452441	hsa-miR-7851-3p	PAR-CLIP	23592263
MIRT452440	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT452439	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT452438	hsa-miR-648	PAR-CLIP	23592263
MIRT452437	hsa-miR-4302	PAR-CLIP	23592263
MIRT452436	hsa-miR-3192-5p	PAR-CLIP	23592263
MIRT452435	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT452434	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT452433	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT452432	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT452431	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT452430	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT452429	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT452428	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT452426	hsa-miR-4458	PAR-CLIP	23592263
MIRT452427	hsa-miR-4500	PAR-CLIP	23592263
MIRT452425	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT452424	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT452423	hsa-miR-4663	PAR-CLIP	23592263
MIRT452422	hsa-miR-7160-5p	PAR-CLIP	23592263
MIRT452421	hsa-miR-8077	PAR-CLIP	23592263
MIRT452420	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT452419	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT452417	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT452418	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT452416	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT452415	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT452414	hsa-miR-4451	PAR-CLIP	23592263
MIRT452413	hsa-miR-101-3p	PAR-CLIP	23592263
MIRT452412	hsa-miR-582-5p	PAR-CLIP	23592263
MIRT452411	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT452410	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT452409	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT452408	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT452407	hsa-miR-3689c	PAR-CLIP	23592263
MIRT452405	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT452406	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT1279659	hsa-miR-1207-5p	CLIP-seq
MIRT1279660	hsa-miR-126	CLIP-seq
MIRT1279661	hsa-miR-140-3p	CLIP-seq
MIRT1279662	hsa-miR-2277-3p	CLIP-seq
MIRT1279663	hsa-miR-3128	CLIP-seq
MIRT1279664	hsa-miR-3164	CLIP-seq
MIRT1279665	hsa-miR-3606	CLIP-seq
MIRT1279666	hsa-miR-3652	CLIP-seq
MIRT1279667	hsa-miR-3922-5p	CLIP-seq
MIRT1279668	hsa-miR-4252	CLIP-seq
MIRT1279669	hsa-miR-4329	CLIP-seq
MIRT1279670	hsa-miR-4430	CLIP-seq
MIRT1279671	hsa-miR-4457	CLIP-seq
MIRT1279672	hsa-miR-4638-3p	CLIP-seq
MIRT1279673	hsa-miR-4691-3p	CLIP-seq
MIRT1279674	hsa-miR-4717-5p	CLIP-seq
MIRT1279675	hsa-miR-4720-5p	CLIP-seq
MIRT1279676	hsa-miR-4731-3p	CLIP-seq
MIRT1279677	hsa-miR-4736	CLIP-seq
MIRT1279678	hsa-miR-4753-5p	CLIP-seq
MIRT1279679	hsa-miR-4763-3p	CLIP-seq
MIRT1279680	hsa-miR-4799-3p	CLIP-seq
MIRT1279681	hsa-miR-4801	CLIP-seq
MIRT1279682	hsa-miR-570	CLIP-seq
MIRT1279683	hsa-miR-921	CLIP-seq
MIRT2308050	hsa-miR-1197	CLIP-seq
MIRT1279659	hsa-miR-1207-5p	CLIP-seq
MIRT2308051	hsa-miR-1233	CLIP-seq
MIRT2308052	hsa-miR-1244	CLIP-seq
MIRT2308053	hsa-miR-1245b-3p	CLIP-seq
MIRT1279661	hsa-miR-140-3p	CLIP-seq
MIRT2308054	hsa-miR-2467-3p	CLIP-seq
MIRT1279663	hsa-miR-3128	CLIP-seq
MIRT2308055	hsa-miR-3144-3p	CLIP-seq
MIRT2308056	hsa-miR-3678-3p	CLIP-seq
MIRT2308057	hsa-miR-3680	CLIP-seq
MIRT1279668	hsa-miR-4252	CLIP-seq
MIRT2308058	hsa-miR-4290	CLIP-seq
MIRT2308059	hsa-miR-4424	CLIP-seq
MIRT2308060	hsa-miR-4427	CLIP-seq
MIRT2308061	hsa-miR-4462	CLIP-seq
MIRT2308062	hsa-miR-4653-3p	CLIP-seq
MIRT2308063	hsa-miR-4680-3p	CLIP-seq
MIRT2308064	hsa-miR-4687-5p	CLIP-seq
MIRT1279674	hsa-miR-4717-5p	CLIP-seq
MIRT1279675	hsa-miR-4720-5p	CLIP-seq
MIRT1279677	hsa-miR-4736	CLIP-seq
MIRT2308065	hsa-miR-4749-3p	CLIP-seq
MIRT1279679	hsa-miR-4763-3p	CLIP-seq
MIRT2308066	hsa-miR-4798-3p	CLIP-seq
MIRT1279680	hsa-miR-4799-3p	CLIP-seq
MIRT2308067	hsa-miR-543	CLIP-seq
MIRT2308068	hsa-miR-602	CLIP-seq
MIRT1279659	hsa-miR-1207-5p	CLIP-seq
MIRT1279663	hsa-miR-3128	CLIP-seq
MIRT1279664	hsa-miR-3164	CLIP-seq
MIRT1279665	hsa-miR-3606	CLIP-seq
MIRT1279675	hsa-miR-4720-5p	CLIP-seq
MIRT1279677	hsa-miR-4736	CLIP-seq
MIRT1279679	hsa-miR-4763-3p	CLIP-seq
MIRT1279680	hsa-miR-4799-3p	CLIP-seq
MIRT1279683	hsa-miR-921	CLIP-seq
MIRT1279659	hsa-miR-1207-5p	CLIP-seq
MIRT2308051	hsa-miR-1233	CLIP-seq
MIRT2308053	hsa-miR-1245b-3p	CLIP-seq
MIRT2605288	hsa-miR-1273f	CLIP-seq
MIRT2605289	hsa-miR-132	CLIP-seq
MIRT2605290	hsa-miR-143	CLIP-seq
MIRT2605291	hsa-miR-181a	CLIP-seq
MIRT2605292	hsa-miR-181b	CLIP-seq
MIRT2605293	hsa-miR-181c	CLIP-seq
MIRT2605294	hsa-miR-181d	CLIP-seq
MIRT2605295	hsa-miR-1972	CLIP-seq
MIRT2605296	hsa-miR-212	CLIP-seq
MIRT2605297	hsa-miR-23a	CLIP-seq
MIRT2605298	hsa-miR-23b	CLIP-seq
MIRT2605299	hsa-miR-23c	CLIP-seq
MIRT2308054	hsa-miR-2467-3p	CLIP-seq
MIRT2605300	hsa-miR-3065-5p	CLIP-seq
MIRT1279663	hsa-miR-3128	CLIP-seq
MIRT1279664	hsa-miR-3164	CLIP-seq
MIRT2605301	hsa-miR-323b-3p	CLIP-seq
MIRT1279665	hsa-miR-3606	CLIP-seq
MIRT2605302	hsa-miR-3613-3p	CLIP-seq
MIRT2605303	hsa-miR-3622a-5p	CLIP-seq
MIRT2605304	hsa-miR-3662	CLIP-seq
MIRT2605305	hsa-miR-3665	CLIP-seq
MIRT2308056	hsa-miR-3678-3p	CLIP-seq
MIRT2605306	hsa-miR-3682-5p	CLIP-seq
MIRT2605307	hsa-miR-3973	CLIP-seq
MIRT1279668	hsa-miR-4252	CLIP-seq
MIRT2605308	hsa-miR-4262	CLIP-seq
MIRT2308058	hsa-miR-4290	CLIP-seq
MIRT2605309	hsa-miR-4423-3p	CLIP-seq
MIRT2308064	hsa-miR-4687-5p	CLIP-seq
MIRT2605310	hsa-miR-4690-5p	CLIP-seq
MIRT2605311	hsa-miR-4704-3p	CLIP-seq
MIRT2605312	hsa-miR-4708-5p	CLIP-seq
MIRT1279674	hsa-miR-4717-5p	CLIP-seq
MIRT2605313	hsa-miR-4719	CLIP-seq
MIRT1279675	hsa-miR-4720-5p	CLIP-seq
MIRT1279677	hsa-miR-4736	CLIP-seq
MIRT2308065	hsa-miR-4749-3p	CLIP-seq
MIRT1279679	hsa-miR-4763-3p	CLIP-seq
MIRT2605314	hsa-miR-4770	CLIP-seq
MIRT1279680	hsa-miR-4799-3p	CLIP-seq
MIRT2605315	hsa-miR-511	CLIP-seq
MIRT2605316	hsa-miR-512-5p	CLIP-seq
MIRT2605317	hsa-miR-676	CLIP-seq
MIRT2605318	hsa-miR-764	CLIP-seq
MIRT1279683	hsa-miR-921	CLIP-seq
MIRT2605319	hsa-miR-95	CLIP-seq
MIRT1279659	hsa-miR-1207-5p	CLIP-seq
MIRT2308051	hsa-miR-1233	CLIP-seq
MIRT2308053	hsa-miR-1245b-3p	CLIP-seq
MIRT2605288	hsa-miR-1273f	CLIP-seq
MIRT2605289	hsa-miR-132	CLIP-seq
MIRT2605290	hsa-miR-143	CLIP-seq
MIRT2605291	hsa-miR-181a	CLIP-seq
MIRT2605292	hsa-miR-181b	CLIP-seq
MIRT2605293	hsa-miR-181c	CLIP-seq
MIRT2605294	hsa-miR-181d	CLIP-seq
MIRT2605295	hsa-miR-1972	CLIP-seq
MIRT2605296	hsa-miR-212	CLIP-seq
MIRT2605297	hsa-miR-23a	CLIP-seq
MIRT2605298	hsa-miR-23b	CLIP-seq
MIRT2605299	hsa-miR-23c	CLIP-seq
MIRT2308054	hsa-miR-2467-3p	CLIP-seq
MIRT2605300	hsa-miR-3065-5p	CLIP-seq
MIRT1279663	hsa-miR-3128	CLIP-seq
MIRT1279664	hsa-miR-3164	CLIP-seq
MIRT2605301	hsa-miR-323b-3p	CLIP-seq
MIRT1279665	hsa-miR-3606	CLIP-seq
MIRT2605302	hsa-miR-3613-3p	CLIP-seq
MIRT2605303	hsa-miR-3622a-5p	CLIP-seq
MIRT2605304	hsa-miR-3662	CLIP-seq
MIRT2605305	hsa-miR-3665	CLIP-seq
MIRT2308056	hsa-miR-3678-3p	CLIP-seq
MIRT2605306	hsa-miR-3682-5p	CLIP-seq
MIRT2605307	hsa-miR-3973	CLIP-seq
MIRT1279668	hsa-miR-4252	CLIP-seq
MIRT2605308	hsa-miR-4262	CLIP-seq
MIRT2308058	hsa-miR-4290	CLIP-seq
MIRT2605309	hsa-miR-4423-3p	CLIP-seq
MIRT2308064	hsa-miR-4687-5p	CLIP-seq
MIRT2605310	hsa-miR-4690-5p	CLIP-seq
MIRT2605311	hsa-miR-4704-3p	CLIP-seq
MIRT2605312	hsa-miR-4708-5p	CLIP-seq
MIRT1279674	hsa-miR-4717-5p	CLIP-seq
MIRT2605313	hsa-miR-4719	CLIP-seq
MIRT1279675	hsa-miR-4720-5p	CLIP-seq
MIRT1279677	hsa-miR-4736	CLIP-seq
MIRT2308065	hsa-miR-4749-3p	CLIP-seq
MIRT1279679	hsa-miR-4763-3p	CLIP-seq
MIRT2605314	hsa-miR-4770	CLIP-seq
MIRT1279680	hsa-miR-4799-3p	CLIP-seq
MIRT2605315	hsa-miR-511	CLIP-seq
MIRT2605316	hsa-miR-512-5p	CLIP-seq
MIRT2605317	hsa-miR-676	CLIP-seq
MIRT2605318	hsa-miR-764	CLIP-seq
MIRT1279683	hsa-miR-921	CLIP-seq
MIRT2605319	hsa-miR-95	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001889	Process	Liver development	IEA
GO:0004155	Function	6,7-dihydropteridine reductase activity	IBA	21873635
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Cellular amino acid metabolic process	TAS	3033643
GO:0006559	Process	L-phenylalanine catabolic process	IBA	21873635
GO:0006559	Process	L-phenylalanine catabolic process	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA	21873635
GO:0009055	Function	Electron transfer activity	TAS	3033643
GO:0010044	Process	Response to aluminum ion	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0033762	Process	Response to glucagon	IEA
GO:0035690	Process	Cellular response to drug	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0051066	Process	Dihydrobiopterin metabolic process	TAS	3033643
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070402	Function	NADPH binding	IBA	21873635
GO:0070404	Function	NADH binding	IBA	21873635

Other IDs

• MIM: 612676
• HGNC: 9752
• e!Ensembl: ENSG00000151552

Protein

• UniProt ID: P09417
• Protein name: Dihydropteridine reductase (EC 1.5.1.34) (HDHPR) (Quinoid dihydropteridine reductase) (Short chain dehydrogenase/reductase family 33C member 1)
• Protein function: Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin.
• PDB: 1HDR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	11 → 198	short chain dehydrogenase	Domain

• Sequence:

  MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSF
  TEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSH
  LATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAV
  LPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELT
  PAYF

• Sequence length: 244

Pathways

KEGG:

Folate biosynthesis
Metabolic pathways

Reactome:

Phenylalanine metabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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
Dihydropteridine reductase deficiency	Dihydropteridine reductase deficiency	rs2108993008, rs104893863, rs104893864, rs104893865, rs2108987974, rs104893866, rs104893867, rs1407920390, rs1034528249, rs750201480, rs1171544975, rs757483045, rs1577184852, rs779997983, rs1577191558, rs1577195951
Hyperphenylalaninemia	Hyperphenylalaninaemia, Hyperphenylalaninemia, Non-Phenylketonuric	rs104894274, rs794726656, rs104894278, rs62514958, rs5030856, rs62517167, rs1035794099, rs775029664, rs1589052989, rs770562664, rs1273776043, rs569240271, rs761235755, rs1277990552, rs370032864, rs1841794635, rs755829473, rs1841794857	25526675
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
Phenylketonuria	Phenylketonurias, Phenylketonuria II, Classical phenylketonuria	rs5030861, rs5030858, rs62642936, rs62514959, rs62508698, rs76296470, rs5030849, rs62516151, rs5030847, rs62514891, rs5030843, rs5030846, rs5030851, rs62514927, rs62508588, rs79931499, rs5030860, rs62514907, rs62516095, rs62514952, rs62516096, rs62514953, rs5030852, rs62642930, rs199475584, rs118203921, rs78655458, rs62508727, rs62642926, rs5030855, rs5030841, rs62514934, rs5030850, rs199475566, rs5030859, rs62642933, rs62514955, rs62508646, rs62514958, rs62644499, rs62642934, rs62516101, rs62516097, rs118203923, rs62514893, rs62507344, rs62516060, rs5030856, rs5030854, rs62517167, rs62642937, rs74603784, rs118203925, rs74486803, rs76212747, rs62508689, rs62642941, rs62644473, rs75193786, rs62507347, rs62516092, rs62507322, rs5030857, rs199475598, rs76394784, rs398123292, rs62507321, rs77554925, rs199475655, rs77958223, rs62516109, rs199475654, rs62642939, rs5030853, rs62514956, rs62642935, rs62508578, rs62517174, rs62516061, rs62508735, rs62516150, rs62517200, rs62516153, rs62507282, rs63581460, rs62508651, rs62507265, rs62508679, rs62508582, rs62516062, rs62516063, rs62516154, rs199475600, rs62507279, rs62516157, rs62517183, rs62508628, rs62508686, rs62516094, rs62507350, rs199475633, rs62516147, rs62507334, rs62508684, rs62508595, rs62507329, rs5030654, rs62516098, rs62506951, rs62517163, rs62508717, rs62516099, rs199475674, rs62642921, rs62642942, rs199475691, rs62516141, rs62517194, rs199475629, rs62506949, rs199475695, rs62516142, rs62516102, rs62516103, rs62508736, rs199475638, rs199475603, rs199475590, rs62508613, rs62509015, rs62509018, rs62508674, rs199475658, rs63186960, rs62507261, rs62508725, rs62644469, rs62644465, rs62642928, rs62644475, rs62642916, rs62644477, rs62644467, rs62644501, rs62635346, rs199475696, rs199475607, rs199475659, rs1799970, rs62508649, rs62508650, rs199475628, rs76542238, rs199475641, rs199475591, rs199475630, rs199475619, rs199475677, rs199475631, rs62514898, rs62507288, rs199475567, rs62507341, rs199475665, rs199475651, rs199475634, rs672601294, rs199475643, rs5030842, rs199475639, rs199475678, rs63048261, rs62642094, rs62508695, rs62507332, rs62507326, rs62509017, rs63749677, rs62514902, rs62507270, rs62506950, rs62514903, rs62508682, rs62508575, rs62508591, rs62642929, rs199475627, rs199475648, rs199475684, rs62517195, rs199475586, rs199475622, rs199475606, rs199475623, rs199475605, rs199475680, rs199475572, rs140175796, rs199475624, rs199475694, rs62517166, rs62508642, rs62514909, rs80297647, rs199475649, rs199475597, rs199475625, rs199475587, rs199475663, rs199475686, rs199475611, rs75166491, rs62642906, rs79635844, rs199475647, rs199475595, rs199475626, rs199475645, rs199475661, rs199475679, rs63102461, rs199475652, rs199475613, rs199475596, rs199475588, rs199475632, rs138809906, rs199475575, rs199475602, rs199475671, rs199475617, rs62507328, rs62517207, rs62507272, rs62507336, rs199475689, rs62507260, rs62514919, rs62508587, rs5030844, rs62895363, rs199475585, rs199475697, rs63749676, rs62508643, rs62514895, rs62517205, rs62517180, rs62507271, rs1801147, rs62514928, rs63083560, rs62508728, rs62517201, rs62508721, rs62514931, rs62514929, rs62517198, rs62509013, rs62508718, rs62514933, rs62507319, rs62507323, rs199475589, rs62508696, rs62508615, rs62516152, rs5030845, rs62508577, rs62507348, rs62517208, rs199475656, rs62507269, rs62514938, rs199475577, rs62507283, rs62507337, rs62508594, rs76687508, rs62508730, rs199475657, rs199475578, rs62508694, rs199475610, rs199475666, rs62508731, rs199475579, rs74503222, rs62507338, rs62644503, rs62642908, rs62642932, rs62507335, rs199475676, rs199475675, rs62508692, rs199475644, rs62508687, rs199475690, rs62514950, rs62514951, rs62507286, rs199475692, rs199475581, rs62508691, rs62508715, rs62516149, rs62508722, rs62516155, rs62516156, rs62507262, rs62508734, rs199475653, rs62507324, rs62516146, rs62509019, rs199475582, rs199475660, rs62517168, rs62508693, rs199475682, rs62508739, rs199475693, rs62642910, rs62642945, rs199475609, rs62642920, rs199475608, rs199475592, rs199475583, rs62517165, rs62642095, rs62642913, rs62651568, rs62642915, rs62642914, rs199475650, rs62642907, rs62642940, rs62642917, rs199475615, rs62514957, rs199475618, rs62508584, rs62508637, rs62517199, rs62508573, rs199475616, rs62508580, rs199475614, rs281865447, rs281865435, rs281865436, rs281865438, rs140945592, rs281865454, rs281865428, rs199475698, rs281865448, rs281865455, rs281865433, rs281865442, rs281865443, rs281865445, rs62508752, rs281865429, rs281865449, rs281865456, rs281865430, rs202183605, rs281865165, rs281865440, rs62514936, rs786204457, rs199475565, rs794727086, rs794727619, rs765552494, rs796064501, rs796064503, rs796064502, rs869312997, rs542645236, rs869312996, rs1057516377, rs567261857, rs1037293795, rs1057517009, rs1057516914, rs1057516604, rs1057516389, rs760830761, rs1555204434, rs763115697, rs1555203737, rs1555204441, rs762949770, rs1555204492, rs764974157, rs1445893088, rs773526027, rs1555203401, rs1429055740, rs1555203681, rs376480977, rs199475604, rs1555204750, rs1555207979, rs1226613045, rs1555203951, rs1555204295, rs1555204711, rs1555205655, rs1555209578, rs1334974448, rs1555203363, rs62508737, rs778154939, rs199475673, rs539743701, rs752255985, rs1555203666, rs751203209, rs201245932, rs1555209575, rs1555209932, rs1565848110, rs1565842203, rs1565853495, rs749613899, rs781096854, rs1565846764, rs1565846805, rs1565846863, rs1565846899, rs1565848061, rs1565866547, rs1565853526, rs1592945394, rs1592947508, rs1488232864, rs886042078, rs1346707834, rs1592945607, rs1200240274, rs1592978629, rs1592944816, rs184148104, rs192592111, rs767453024, rs1592947582, rs1592947538, rs1592947563, rs1592978816, rs1592952179, rs1592952183, rs1057520732, rs1486763160, rs1592953143, rs1592961381, rs1592978725, rs1592978760, rs1592978901, rs1592978950, rs1592978986, rs1592978992, rs1592979013, rs1025860114, rs1592991145, rs1592991176, rs1592991184, rs1592991196, rs1592991220, rs1592991243, rs1192400891, rs180819807, rs1876628530, rs1874533541, rs1874691554, rs1874735553, rs1876627337, rs1876628624, rs1877437661	25526675, 11153907, 10677304, 9744478, 25667865, 26006720, 10029353, 2116088, 25526675, 10408783, 7627180, 8326489, 27604308, 27830117, 8518287

Unknown
Disease name	Disease term	dbSNP ID	References
Choreoathetosis	Choreoathetosis
Dysphagia	Deglutition Disorders