Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5860
Gene name	Quinoid dihydropteridine reductase
Gene symbol	QDPR
Synonyms (NCBI Gene)	DHPRHDHPRPKU2SDR33C1
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

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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

291

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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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004155	Function	6,7-dihydropteridine reductase activity	IBA
GO:0004155	Function	6,7-dihydropteridine reductase activity	IDA	3033643
GO:0004155	Function	6,7-dihydropteridine reductase activity	IEA
GO:0004155	Function	6,7-dihydropteridine reductase activity	TAS	3033643
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005829	Component	Cytosol	TAS
GO:0006520	Process	Amino acid metabolic process	TAS	3033643
GO:0006559	Process	L-phenylalanine catabolic process	IBA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0009055	Function	Electron transfer activity	TAS	3033643
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042558	Process	Pteridine-containing compound metabolic process	IEA
GO:0051066	Process	Dihydrobiopterin metabolic process	TAS	3033643
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070402	Function	NADPH binding	IBA
GO:0070404	Function	NADH binding	IBA

MIM	HGNC	e!Ensembl
612676	9752	ENSG00000151552

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

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways		Phenylalanine metabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Pathogenic	rs1577191558	RCV001813807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Pathogenic	rs761619802	RCV005922668	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dihydropteridine reductase deficiency	Likely pathogenic; Pathogenic	rs995264302, rs769460415, rs1428018512, rs776171302, rs761619802, rs2108997263, rs1184906056, rs1028029163, rs778806991, rs2108999089, rs1362475419, rs2108993008, rs104893863, rs104893864, rs104893865 View all (31 more)	RCV001332364 RCV001378367 RCV001378092 RCV001783658 RCV001885312 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Likely pathogenic; Pathogenic	rs104893863	RCV003153240	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
QDPR-related disorder	Likely pathogenic; Pathogenic	rs1254995369	RCV003414521	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Basal Ganglia Diseases	Basal Ganglia Diseases	BEFREE	18425437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	1160969, 18425437, 20823030, 21890392, 9427141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dihydropteridine reductase deficiency	Dihydropteridine Reductase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatty Liver	Fatty liver	Pubtator	38034016	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	30500537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	11694255, 14705166, 16198137, 23942198, 25124972, 496890, 7444937, 9219069, 9341885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	BEFREE	11694255, 14705166, 22729819, 23138986, 8326489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18425437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratomalacia	Keratomalacia	BEFREE	20823030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	20823030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mandibulofacial Dysostosis	Mandibulofacial Dysostosis	BEFREE	1684950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18425437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27798097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15336973		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	18425437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27613114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27613114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	GENOMICS_ENGLAND_DG	10029353, 10677304, 11153907, 25667865, 27604308, 27830117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	UNIPROT_DG	10408783, 11153907, 2116088, 8326489, 9744478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	BEFREE	11153907, 20823030, 25124972, 3031582, 30995231, 8326489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	CLINVAR_DG	26006720, 7627180, 8326489, 8518287, 9744478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonuria II	Phenylketonuria	ORPHANET_DG	9744478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	1160969, 18425437, 22729819, 23942198, 24705691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	CTD_human_DG	25526675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	15009710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	15009710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	15009710		★★★★★ ★☆☆☆☆ Found in Text Mining only

QDPR (quinoid dihydropteridine reductase)