eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 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 | |
| OMIM | |
| DOID | |
| UMLS | C0031485 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0025362 | mental retardation | 3 C0023418 | leukemia | 1 C0023467 | acute myeloblastic leukemia | 1 C0027765 | neurological disorder | 1 C0031485 | phenylketonuria | 1 C0042075 | urological disorders | 1 C0027765 | neurological disorders | 1 C0031485 | phenylalaninemia | 1 C0948265 | metabolic syndrome | 1 C1263846 | attention deficit hyperactivity disorder | 1 C0030486 | paraplegia | 1 C0158699 | renal agenesis | 1 C0031485 | phenylketonuria (pku) | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:83) 10057 | ABCC5 | 1.108 | DISEASES 31 | ACACA | 1.75 | DISEASES 32 | ACACB | 2.343 | DISEASES 34 | ACADM | 2.541 | DISEASES 392636 | AGMO | 2.34 | DISEASES 229 | ALDOB | 2.442 | DISEASES 279 | AMY2A | 1.991 | DISEASES 280 | AMY2B | 2.91 | DISEASES 23365 | ARHGEF12 | 1.213 | DISEASES 444 | ASPH | 1.12 | DISEASES 622 | BDH1 | 2.215 | DISEASES 632 | BGLAP | 2.244 | DISEASES 114899 | C1QTNF3 | 1.167 | DISEASES 773 | CACNA1A | 4.463 | DISEASES 815 | CAMK2A | 1.824 | DISEASES 875 | CBS | 1.977 | DISEASES 959 | CD40LG | 1.303 | DISEASES 55748 | CNDP2 | 1.171 | DISEASES 199699 | DAND5 | 1.091 | DISEASES 9188 | DDX21 | 1.445 | DISEASES 1733 | DIO1 | 1.929 | DISEASES 1735 | DIO3 | 1.547 | DISEASES 1756 | DMD | 1.128 | DISEASES 83658 | DYNLRB1 | 1.528 | DISEASES 124454 | EARS2 | 1.508 | DISEASES 2108 | ETFA | 1.394 | DISEASES 2170 | FABP3 | 1.97 | DISEASES 2328 | FMO3 | 1.894 | DISEASES 2592 | GALT | 3.464 | DISEASES 2643 | GCH1 | 3.404 | DISEASES 51738 | GHRL | 1.034 | DISEASES 3033 | HADH | 1.935 | DISEASES 3030 | HADHA | 2.521 | DISEASES 3155 | HMGCL | 2.697 | DISEASES 3363 | HTR7 | 1.543 | DISEASES 133396 | IL31RA | 2.414 | DISEASES 27124 | INPP5J | 2.177 | DISEASES 4129 | MAOB | 1.022 | DISEASES 4155 | MBP | 1.894 | DISEASES 4190 | MDH1 | 2.783 | DISEASES 219541 | MED19 | 1.715 | DISEASES 8972 | MGAM | 2.225 | DISEASES 4644 | MYO5A | 2.113 | DISEASES 9 | NAT1 | 1.201 | DISEASES 4688 | NCF2 | 1.04 | DISEASES 400746 | NCMAP | 3.102 | DISEASES 22871 | NLGN1 | 1.762 | DISEASES 170392 | OIT3 | 2.329 | DISEASES 5053 | PAH | 8.369 | DISEASES 5096 | PCCB | 1.562 | DISEASES 5223 | PGAM1 | 1.678 | DISEASES 441531 | PGAM4 | 2.338 | DISEASES 5236 | PGM1 | 2.48 | DISEASES 5365 | PLXNB3 | 2.507 | DISEASES 23203 | PMPCA | 2.162 | DISEASES 56980 | PRDM10 | 1.403 | DISEASES 5625 | PRODH | 1.116 | DISEASES 80324 | PUS1 | 2.126 | DISEASES 54517 | PUS7 | 3.754 | DISEASES 5873 | RAB27A | 1.212 | DISEASES 387 | RHOA | 1.139 | DISEASES 6050 | RNH1 | 1.001 | DISEASES 57142 | RTN4 | 2.674 | DISEASES 5265 | SERPINA1 | 1.347 | DISEASES 9376 | SLC22A8 | 1.25 | DISEASES 10165 | SLC25A13 | 3.675 | DISEASES 6520 | SLC3A2 | 2.618 | DISEASES 348932 | SLC6A18 | 3.19 | DISEASES 23642 | SNHG1 | 3.037 | DISEASES 26812 | SNORD37 | 3.741 | DISEASES 10011 | SRA1 | 1.099 | DISEASES 6428 | SRSF3 | 1.648 | DISEASES 6430 | SRSF5 | 1.946 | DISEASES 8801 | SUCLG2 | 1.138 | DISEASES 6888 | TALDO1 | 1.314 | DISEASES 6898 | TAT | 2.406 | DISEASES 1678 | TIMM8A | 1.325 | DISEASES 7148 | TNXB | 1.377 | DISEASES 121278 | TPH2 | 1.378 | DISEASES 51733 | UPB1 | 3.324 | DISEASES 157680 | VPS13B | 1.11 | DISEASES 23038 | WDTC1 | 1.188 | DISEASES 84627 | ZNF469 | 1.856 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 84 |
|---|---|
| Disease | phenylketonuria |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:3) HP:0003355 | Aminoaciduria HP:0010864 | Intellectual disability, severe HP:0002564 | Malformation of the heart and great vessels |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001249 | Mental retardation | 4 HP:0002500 | Leukoaraiosis | 2 HP:0004808 | Acute myelogenous leukemia | 1 HP:0000752 | Hyperactive behavior | 1 HP:0001909 | Leukemia | 1 HP:0002187 | Intellectual disability, profound | 1 HP:0012072 | Aciduria | 1 HP:0003146 | Decreased circulating cholesterol level | 1 HP:0001258 | Spastic paraplegia, lower limb | 1 HP:0000104 | Renal agenesis | 1 HP:0000708 | Behavioral problems | 1 HP:0001270 | Motor retardation | 1 HP:0000122 | Unilateral kidney agenesis | 1 HP:0007018 | Attention deficits | 1 HP:0010550 | Paraplegia | 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:2) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PAH | A300Sb ,A403V | doi:10.1038/gim.2016.30 | Carrier screening in the era of expanding genetic technology |
| PAH | Het del exon 5 | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
Text Mining Genotype(Total 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:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 84 |
|---|---|
| Disease | phenylketonuria |
| Case | (Waiting for update.) |