PedAM

Pediatric Disease Annotations & Medicines


	phenylketonuria

Disease ID	84
Disease	phenylketonuria
Definition	A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
Synonym	phenylalaninemia phenylketonuria (disorder) phenylketonuria (pku) phenylketonuria - pku phenylketonuria [pku] phenylketonurias phenylketonurias [disease/finding] phenylketouria pku pku phenylketonuria
Orphanet	ORPHANET:716
OMIM	OMIM:261600
DOID	DOID:9281
UMLS	C0031485
MeSH	D010661
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0025362 \| mental retardation \| 3 C0023418 \| leukemia \| 1 C0011849 \| diabetes mellitus \| 1 C0027765 \| neurological disorder \| 1 C0027765 \| neurological disorders \| 1 C0011847 \| diabetes \| 1 C0023467 \| acute myeloblastic leukemia \| 1 C0042075 \| urological disorders \| 1 C0158699 \| renal agenesis \| 1 C0031485 \| phenylalaninemia \| 1 C0948265 \| metabolic syndrome \| 1 C1263846 \| attention deficit hyperactivity disorder \| 1 C0030486 \| paraplegia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) QDPR \| 5860 \| CTD_human;UniProtKB-KW GCH1 \| 2643 \| UniProtKB-KW PAH \| 5053 \| CLINVAR;CTD_human;UniProtKB-KW;GHR PTS \| 5805 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5053 \| PAH \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:172) 1080 \| CFTR \| DISEASES 1595 \| CYP51A1 \| DISEASES 8935 \| SKAP2 \| DISEASES 64132 \| XYLT2 \| DISEASES 5009 \| OTC \| DISEASES 4826 \| NNAT \| DISEASES 5010 \| CLDN11 \| DISEASES 55808 \| ST6GALNAC1 \| DISEASES 8508 \| NIPSNAP1 \| DISEASES 158 \| ADSL \| DISEASES 2954 \| GSTZ1 \| DISEASES 10278 \| EFS \| DISEASES 79152 \| FA2H \| DISEASES 1666 \| DECR1 \| DISEASES 2765 \| GML \| DISEASES 2936 \| GSR \| DISEASES 2639 \| GCDH \| DISEASES 56521 \| DNAJC12 \| DISEASES 2584 \| GALK1 \| DISEASES 3945 \| LDHB \| DISEASES 338 \| APOB \| DISEASES 33 \| ACADL \| DISEASES 6697 \| SPR \| DISEASES 7276 \| TTR \| DISEASES 1846 \| DUSP4 \| DISEASES 7291 \| TWIST1 \| DISEASES 35 \| ACADS \| DISEASES 10047 \| CST8 \| DISEASES 5199 \| CFP \| DISEASES 92797 \| HELB \| DISEASES 7429 \| VIL1 \| DISEASES 7166 \| TPH1 \| DISEASES 3630 \| INS \| DISEASES 10343 \| PKDREJ \| DISEASES 7014 \| TERF2 \| DISEASES 6616 \| SNAP25 \| DISEASES 29969 \| MDFIC \| DISEASES 2644 \| GCHFR \| DISEASES 2184 \| FAH \| DISEASES 23531 \| MMD \| DISEASES 4591 \| TRIM37 \| DISEASES 23417 \| MLYCD \| DISEASES 9135 \| RABEP1 \| DISEASES 25939 \| SAMHD1 \| DISEASES 7299 \| TYR \| DISEASES 51430 \| SUCO \| DISEASES 60482 \| SLC5A7 \| DISEASES 3004 \| GZMM \| DISEASES 5443 \| POMC \| DISEASES 11107 \| PRDM5 \| DISEASES 10661 \| KLF1 \| DISEASES 10058 \| ABCB6 \| DISEASES 38 \| ACAT1 \| DISEASES 6821 \| SUOX \| DISEASES 6895 \| TARBP2 \| DISEASES 3073 \| HEXA \| DISEASES 5373 \| PMM2 \| DISEASES 54957 \| TXNL4B \| DISEASES 5226 \| PGD \| DISEASES 52 \| ACP1 \| DISEASES 6988 \| TCTA \| DISEASES 54539 \| NDUFB11 \| DISEASES 4915 \| NTRK2 \| DISEASES 932 \| MS4A3 \| DISEASES 5805 \| PTS \| DISEASES 5860 \| QDPR \| DISEASES 7074 \| TIAM1 \| DISEASES 3156 \| HMGCR \| DISEASES 213 \| ALB \| DISEASES 51151 \| SLC45A2 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 57094 \| CPA6 \| DISEASES 142940 \| TRUB1 \| DISEASES 5092 \| PCBD1 \| DISEASES 124935 \| SLC43A2 \| DISEASES 5617 \| PRL \| DISEASES 51181 \| DCXR \| DISEASES 1448 \| CSN3 \| DISEASES 25928 \| SOSTDC1 \| DISEASES 2548 \| GAA \| DISEASES 686 \| BTD \| DISEASES 51029 \| DESI2 \| DISEASES 2720 \| GLB1 \| DISEASES 3159 \| HMGA1 \| DISEASES 1808 \| DPYSL2 \| DISEASES 23209 \| MLC1 \| DISEASES 11322 \| TMC6 \| DISEASES 594 \| BCKDHB \| DISEASES 2193 \| FARSA \| DISEASES 6888 \| TALDO1 \| DISEASES 199699 \| DAND5 \| DISEASES 348932 \| SLC6A18 \| DISEASES 51733 \| UPB1 \| DISEASES 55748 \| CNDP2 \| DISEASES 121278 \| TPH2 \| DISEASES 170392 \| OIT3 \| DISEASES 10057 \| ABCC5 \| DISEASES 51738 \| GHRL \| DISEASES 9376 \| SLC22A8 \| DISEASES 219541 \| MED19 \| DISEASES 10011 \| SRA1 \| DISEASES 5873 \| RAB27A \| DISEASES 57142 \| RTN4 \| DISEASES 3363 \| HTR7 \| DISEASES 32 \| ACACB \| DISEASES 392636 \| AGMO \| DISEASES 124454 \| EARS2 \| DISEASES 875 \| CBS \| DISEASES 31 \| ACACA \| DISEASES 9188 \| DDX21 \| DISEASES 6050 \| RNH1 \| DISEASES 5265 \| SERPINA1 \| DISEASES 6898 \| TAT \| DISEASES 54517 \| PUS7 \| DISEASES 5625 \| PRODH \| DISEASES 83658 \| DYNLRB1 \| DISEASES 622 \| BDH1 \| DISEASES 157680 \| VPS13B \| DISEASES 56980 \| PRDM10 \| DISEASES 1735 \| DIO3 \| DISEASES 773 \| CACNA1A \| DISEASES 22871 \| NLGN1 \| DISEASES 280 \| AMY2B \| DISEASES 1733 \| DIO1 \| DISEASES 1756 \| DMD \| DISEASES 23038 \| WDTC1 \| DISEASES 4688 \| NCF2 \| DISEASES 2328 \| FMO3 \| DISEASES 632 \| BGLAP \| DISEASES 959 \| CD40LG \| DISEASES 5223 \| PGAM1 \| DISEASES 5236 \| PGM1 \| DISEASES 23203 \| PMPCA \| DISEASES 1678 \| TIMM8A \| DISEASES 2170 \| FABP3 \| DISEASES 6428 \| SRSF3 \| DISEASES 400746 \| NCMAP \| DISEASES 3155 \| HMGCL \| DISEASES 229 \| ALDOB \| DISEASES 80324 \| PUS1 \| DISEASES 6520 \| SLC3A2 \| DISEASES 4129 \| MAOB \| DISEASES 2592 \| GALT \| DISEASES 444 \| ASPH \| DISEASES 3030 \| HADHA \| DISEASES 114899 \| C1QTNF3 \| DISEASES 4155 \| MBP \| DISEASES 6430 \| SRSF5 \| DISEASES 2643 \| GCH1 \| DISEASES 23365 \| ARHGEF12 \| DISEASES 815 \| CAMK2A \| DISEASES 4644 \| MYO5A \| DISEASES 27124 \| INPP5J \| DISEASES 3033 \| HADH \| DISEASES 279 \| AMY2A \| DISEASES 10165 \| SLC25A13 \| DISEASES 387 \| RHOA \| DISEASES 84627 \| ZNF469 \| DISEASES 7148 \| TNXB \| DISEASES 34 \| ACADM \| DISEASES 441531 \| PGAM4 \| DISEASES 133396 \| IL31RA \| DISEASES 5096 \| PCCB \| DISEASES 8801 \| SUCLG2 \| DISEASES 4190 \| MDH1 \| DISEASES 5365 \| PLXNB3 \| DISEASES 9 \| NAT1 \| DISEASES 8972 \| MGAM \| DISEASES 5053 \| PAH \| DISEASES 2108 \| ETFA \| DISEASES 23642 \| SNHG1 \| DISEASES 26812 \| SNORD37 \| DISEASES
Locus	(Waiting for update.)

Disease ID	84
Disease	phenylketonuria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0002564 \| Malformation of the heart and great vessels HP:0003355 \| Aminoaciduria HP:0010864 \| Intellectual disability, severe
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0001249 \| Mental retardation \| 4 HP:0002500 \| Leukoaraiosis \| 2 HP:0010550 \| Paraplegia \| 1 HP:0000122 \| Unilateral kidney agenesis \| 1 HP:0001270 \| Motor retardation \| 1 HP:0000104 \| Renal agenesis \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0002187 \| Intellectual disability, profound \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0007018 \| Attention deficits \| 1 HP:0012072 \| Aciduria \| 1 HP:0003470 \| Inability to move \| 1 HP:0000752 \| Hyperactive behavior \| 1 HP:0001909 \| Leukemia \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1

Disease ID	84
Disease	phenylketonuria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:36) C2364114 \| tremor C2188188 \| agoraphobia C1963165 \| malabsorption C1963139 \| hypopigmentation C1963101 \| encephalopathy C1027109 \| scleroderma C0751434 \| phenylalanine hydroxylase deficiency C0546817 \| hypervolaemia C0455683 \| congenital heart disease C0268559 \| hyperglycinemia C0268477 \| indicanuria C0262405 \| cerebral dysfunction C0262405 \| brain dysfunction C0242422 \| parkinsonism C0238421 \| selenium deficiency C0235946 \| cerebral atrophy C0235031 \| neurological symptoms C0220992 \| histidinaemia C0042847 \| vitamin b12 deficiency C0037822 \| speech disorders C0037769 \| west syndrome C0037285 \| skin manifestations C0037284 \| skin lesions C0036572 \| seizures C0034013 \| true precocious puberty C0030920 \| peptic ulcer disease C0025517 \| metabolism disorders C0025362 \| mental retardation C0016751 \| hereditary fructose intolerance C0015411 \| eye findings C0014544 \| epilepsy C0009951 \| convulsions C0005940 \| bone disorders C0004936 \| mental disorders C0004096 \| bronchial asthma C0002514 \| hyperaminoaciduria
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0025362 \| mental retardation \| 3

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:166)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118203921	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852881	G	A
rs118203923	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852926	G	A
rs140945592	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894918	C	A,T
rs142934616	11461196	5053	PAH	umls:C0031485	BeFree	Population studies have suggested that the K274E variant occurs on approximately 4% of African-American PAH alleles, whereas the neonatal screening incidence of PKU among African Americans is only 1:100,000.	0.374728567	2001	PAH	12	102852837	T	C
rs1799970	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840398	A	G
rs199475566	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912794	A	-
rs199475575	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855316	G	A
rs199475579	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852917	C	T,A
rs199475584	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843648	T	A
rs199475585	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102917073	G	A
rs199475598	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912794	A	C
rs199475634	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894904	G	T,C
rs199475641	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102839178	-	T
rs199475654	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852816	G	C,A
rs199475655	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866597	G	C
rs199475657	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852935	C	-
rs199475659	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840414	G	T
rs199475680	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877503	G	A
rs199475692	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852845	T	C,A
rs199475698	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877456	A	T,G
rs202183605	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844432	C	G,T
rs281865428	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894737	G	-
rs281865429	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852820	G	-
rs281865430	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846932	AG	-
rs281865431	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894876	-	AGAAGG
rs281865432	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	NA	NA	NA	NA	NA
rs281865433	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	NA	NA	NA	NA	NA
rs281865434	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844397	T	G
rs281865435	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843682	A	G
rs281865436	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843649	A	G
rs281865437	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840475	A	G
rs281865438	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912795	A	G
rs281865439	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894737	G	A
rs281865440	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866600	G	A
rs281865441	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855274	C	T
rs281865442	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855251	C	G
rs281865443	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855210	G	A
rs281865444	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855160	C	T
rs281865445	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852872	A	C
rs281865446	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851712	T	C
rs281865447	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843781	T	A
rs281865448	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866665	T	G
rs281865449	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851685	A	G
rs281865450	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851684	T	G
rs281865451	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846954	G	C
rs281865452	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846959	T	C
rs281865453	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843674	T	C
rs281865454	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894891	C	A
rs281865455	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866601	G	T
rs281865456	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846948	T	-
rs386626621	7860062	5053	PAH	umls:C0031485	BeFree	The mutation S349P in exon 10 of the phenylalanine hydroxylase (PAH) gene was identified in one Norwegian and one Polish phenylketonuria (PKU) allele on a haplotype 1.7 background.	0.374728567	1995	NA	NA	NA	NA	NA
rs386626621	8095248	5053	PAH	umls:C0031485	BeFree	A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.	0.374728567	1993	NA	NA	NA	NA	NA
rs386626622	10471838	5053	PAH	umls:C0031485	BeFree	In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.	0.374728567	1999	NA	NA	NA	NA	NA
rs386626624	10472529	5053	PAH	umls:C0031485	BeFree	We present a child in whom phenylketonuria was apparently caused by homozygosity for the mutation E390G in exon 11 of the phenylalanine hydroxylase (PAH) gene.	0.374728567	1999	NA	NA	NA	NA	NA
rs386626638	10471838	5053	PAH	umls:C0031485	BeFree	In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.	0.374728567	1999	NA	NA	NA	NA	NA
rs398123292	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877548	G	A
rs398123294	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846909	C	A
rs5030654	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843756	C	-
rs5030841	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912816	A	G
rs5030843	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866632	C	T,G
rs5030845	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855151	A	G
rs5030846	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852930	G	A
rs5030847	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852903	G	C,A
rs5030849	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852875	C	T,G
rs5030849	1915502	5053	PAH	umls:C0031485	BeFree	Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.	0.374728567	1991	PAH	12	102852875	C	T,G
rs5030849	11999982	5053	PAH	umls:C0031485	BeFree	We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature.	0.374728567	2002	PAH	12	102852875	C	T,G
rs5030850	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852876	G	C,A
rs5030851	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852815	G	A
rs5030852	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852814	C	T,A
rs5030853	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851701	C	A
rs5030854	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843769	G	C
rs5030855	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843790	C	T
rs5030856	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843676	T	C
rs5030857	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840507	G	A
rs5030858	7833927	5053	PAH	umls:C0031485	BeFree	The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on haplotypes 2.3 and 1.8 in Europeans.	0.374728567	1994	PAH	12	102840493	G	A
rs5030858	12542580	5053	PAH	umls:C0031485	BeFree	Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.	0.374728567	2003	PAH	12	102840493	G	A
rs5030858	8946176	5053	PAH	umls:C0031485	BeFree	Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.	0.374728567	1996	PAH	12	102840493	G	A
rs5030858	12655548	5053	PAH	umls:C0031485	BeFree	The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes.	0.374728567	2003	PAH	12	102840493	G	A
rs5030858	19036622	5053	PAH	umls:C0031485	BeFree	The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical phenylketonuria (PKU) phenotype expressing 0.2-1.8% of the wild type PAH activity when using phenylalanine as substrate were found to have <0.1% of the wild type PAH activity when SCMC was used as the substrate.	0.374728567	2009	PAH	12	102840493	G	A
rs5030858	11317360	5053	PAH	umls:C0031485	BeFree	We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which occur at relative frequencies of 41.0% and 10.4% respectively.	0.374728567	2001	PAH	12	102840493	G	A
rs5030858	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840493	G	A
rs5030858	8808316	5053	PAH	umls:C0031485	BeFree	We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus.	0.374728567	1995	PAH	12	102840493	G	A
rs5030859	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840492	C	T
rs5030860	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840474	T	C
rs5030861	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840399	C	T
rs62507321	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877457	C	A
rs62507322	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840516	C	T
rs62507329	10200057	5053	PAH	umls:C0031485	BeFree	Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.	0.374728567	1998	PAH	12	102843761	G	T,A
rs62507336	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855281	C	T,G
rs62507344	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843782	G	A
rs62507348	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855148	G	A
rs62508578	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844427	T	C
rs62508587	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855261	AG	-
rs62508588	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852929	C	T,A
rs62508646	7860062	5053	PAH	umls:C0031485	BeFree	The mutation S349P in exon 10 of the phenylalanine hydroxylase (PAH) gene was identified in one Norwegian and one Polish phenylketonuria (PKU) allele on a haplotype 1.7 background.	0.374728567	1995	PAH	12	102844356	A	G,C
rs62508646	8095248	5053	PAH	umls:C0031485	BeFree	A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.	0.374728567	1993	PAH	12	102844356	A	G,C
rs62508646	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844356	A	G,C
rs62508687	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852851	A	-
rs62508698	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852819	C	T,G
rs62508721	9048935	5053	PAH	umls:C0031485	BeFree	We report the identification by denaturing gradient gel electrophoresis and sequence analysis of two new phenylalanine hydroxylase (PAH) gene mutations (IVS4nt-2 and N207S) in single chromosomes of two unrelated Italian phenylketonuric (PKU) patients.	0.374728567	1997	PAH	12	102855222	T	C
rs62508727	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894801	TGA	-
rs62508752	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852861	T	G,C
rs62509013	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855194	G	C
rs62509015	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843645	C	T,G,A
rs62514891	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102917130	T	C,A
rs62514893	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102917128	C	T
rs62514895	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102917066	C	T,A
rs62514898	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912790	C	T
rs62514902	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894837	C	A
rs62514907	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102866664	C	T
rs62514927	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855231	T	C
rs62514934	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855180	T	C
rs62514950	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852848	C	T
rs62514952	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852843	C	A
rs62514953	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852839	G	A
rs62514955	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852813	A	T
rs62514956	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851686	C	T
rs62514959	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844424	C	T
rs62516092	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844359	G	C
rs62516095	10471838	5053	PAH	umls:C0031485	BeFree	In this study we have performed in vivo analyses of lymphocyte PAH mRNA from PKU patients homozygous for the PKU missense mutations P281L and R408Q as well as the nonsense mutations G272X and Y356X.	0.374728567	1999	PAH	12	102843777	G	T,C,A
rs62516095	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843777	G	T,C,A
rs62516101	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843683	C	T,G,A
rs62516103	11999982	5053	PAH	umls:C0031485	BeFree	We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare their phenylalanine hydroxylase (PAH) genotypes (A395P/ IVS12+g>a and R261Q/165T, respectively) to those of previous cases from the literature.	0.374728567	2002	PAH	12	102843662	C	G
rs62516109	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855204	A	G
rs62516141	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843688	T	C
rs62516142	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843665	C	G,A
rs62516146	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852810	C	T
rs62517166	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877461	C	T,G
rs62517168	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851752	T	A
rs62642906	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102917083	AG	-
rs62642919	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851730	T	C,A
rs62642926	8808316	5053	PAH	umls:C0031485	BeFree	We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria mutations in Northern Ireland (R408W, 165T and F39L) together with the analysis of a polymorphic short tandem repeat site at the human phenylalanine hydroxylase locus.	0.374728567	1995	PAH	12	102912842	G	C
rs62642926	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912842	G	C
rs62642930	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852893	A	G
rs62642933	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851703	A	C
rs62642934	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846948	T	C
rs62642935	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846938	G	T,A
rs62642936	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102846932	A	G
rs62642937	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843706	G	A
rs62642939	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851709	C	T
rs62642941	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843716	A	-
rs62644473	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840495	G	A
rs62644503	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852902	C	T
rs74503222	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852912	G	A
rs74603784	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912823	C	T
rs74603784	25920592	5053	PAH	umls:C0031485	BeFree	A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.	0.374728567	2014	PAH	12	102912823	C	T
rs75193786	11317360	5053	PAH	umls:C0031485	BeFree	We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which occur at relative frequencies of 41.0% and 10.4% respectively.	0.374728567	2001	PAH	12	102894893	A	T,G,C
rs75193786	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894893	A	T,G,C
rs759154440	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855177	TC	-
rs762462102	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102912841	AGA	-
rs76296470	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894756	G	A
rs76394784	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894883	T	A
rs76687508	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852936	G	A
rs77958223	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102855309	T	C,A
rs786200861	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843751	AGA	-
rs786200862	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102843739	AGCTCCAGGGGGAGA	-
rs786204457	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	NA	NA	NA	NA	NA
rs78655458	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852828	A	C
rs794727086	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102839178	CTTTA	-
rs794727619	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102877546	G	-
rs796064501	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102844376	G	T
rs796064502	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102894845	G	T
rs796064503	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102852821	G	A
rs796064504	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102851704	A	G
rs79931499	9124055	5053	PAH	umls:C0031485	BeFree	A convenient molecular method for the detection of R413P (1238G-->C) mutation in exon 12 of the phenylalanine hydroxylase gene, one of the prevalent mutations among Japanese patients with classical phenylketonuria (PKU) is described.	0.374728567	1997	PAH	12	102840477	C	G,T
rs79931499	NA	5053	PAH	umls:C0031485	CLINVAR	NA	0.374728567	NA	PAH	12	102840477	C	G,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002059	Cerebral atrophy	MP:0003643	spleen atrophy;HP:0001010	Hypopigmentation of the skin

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001300	Parkinsonism	MP:0005402	abnormal action potential;HP:0002099	Asthma

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
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