All individuals with variants in gene PAH

172 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000007 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000010 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00003036 - data copied from the BIOPKU database - - - Austria - - 0 - - PKU classic PKU 2 1 Johan den Dunnen
00025488 - PubMed: Ajami 2013, Journal: Ajami 2013 - F yes Iran Arab - 0 - - PKU mild PKU; pre-treatment Phe level 608 uM 4 1 Naser Ajami
00181048 - - - - - - - - - - - PKU - 2 1 Belen Perez
00181050 - - - - - - - - - - - PKU - 2 1 Belen Perez
00181072 - - - - - - - - - - - PKU - 1 1 Belen Perez
00267035 - - - F - Argentina - - 0 - - PKU - 3 1 Ana Chiesa
00290572 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 85 Mohammed Faruq
00290573 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290574 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290575 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00290576 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290577 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290578 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290579 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 0 Mohammed Faruq
00290580 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00290581 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00290582 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290583 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290584 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 13 Mohammed Faruq
00290585 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00304327 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00307759 UK10K_FINDWGA5411524 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - 0 - - ID - 1 1 Johan den Dunnen
00309846 M002 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00309847 M003 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - OTCD, PKU see paper; ... 2 1 Johan den Dunnen
00309848 M004 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00309849 M005 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00309851 M007 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00309854 M010 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00309855 M011 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - PKU see paper; ... 1 1 Johan den Dunnen
00327547 family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - 0 - - retinal disease see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease 1 5 Johan den Dunnen
00395953 patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - 0 - - BMD/DMD, WEST 4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m- 1 1 Johan den Dunnen
00401297 038P - - M no Spain - - - - - PKU - 2 1 Alejandro Brea-Fernández
00401668 Pat01 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401669 Pat02 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401670 Pat03 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401671 Pat04 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401672 Pat05 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401673 Pat07 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401674 Pat08 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401675 Pat09 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 2 1 Johan den Dunnen
00401676 Pat10 PubMed: Jin 2021 - - - United States - - 0 - - PKU see paper; ... 1 1 Johan den Dunnen
00405979 Pat46 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - F no Mexico Chihuahua - 0 - nutritional treatment PKU newborn screening 2 1 Liliana Fernández
00405980 Pat72 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 patient adopted M ? Mexico Veracruz - 0 - nutritional treatment PKU newborn screening 1 1 Liliana Fernández
00405981 Pat88 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - M no Mexico Veracruz - 0 - nutritional treatment PKU newborn screening 2 1 Liliana Fernández
00406084 Pat1 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406085 Pat2 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406086 Pat3 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406087 Pat4 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406088 Pat5 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406089 Pat6 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406090 Pat7 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406091 Pat8 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406092 Pat9 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406093 Pat10 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406094 Pat11 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406095 Pat12 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406096 Pat13 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Aguascalientes - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406097 Pat14 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406098 Pat15 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Edo Mex - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406099 Pat16 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California Sur - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406100 Pat17 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406101 Pat18 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406102 Pat19 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406103 Pat20 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Yucatan - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406104 Pat21 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406105 Pat22 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406106 Pat23 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Baja California - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406107 Pat24 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406108 Pat25 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406109 Pat26 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406110 Pat27 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Puebla - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406111 Pat28 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406112 Pat29 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Hidalgo - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406113 Pat30 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406114 Pat31 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Queretaro - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406115 Pat32 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406116 Pat33 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406117 Pat34 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Tamaulipas - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406118 Pat35 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Coahuila - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406119 Pat36 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406120 Pat37 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406121 Pat38 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - PKU clinical diagnosis 2 1 Liliana Fernández
00406122 Pat39 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406123 Pat40 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406124 Pat41 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - PKU newborn screening 1 1 Liliana Fernández
00406125 Pat42 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - PKU clinical diagnosis 1 1 Liliana Fernández
00406126 Pat43 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406127 Pat44 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406128 Pat45 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406129 Pat47 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406130 Pat48 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Durango - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406131 Pat49 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Durango - 0 - - PKU newborn screening 2 1 Liliana Fernández
00406132 Pat50 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - 0 - - PKU newborn screening 2 1 Liliana Fernández
Legend   How to query   « First ‹ Prev     1 2     Next › Last »