All individuals with variants in gene PAX4

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00208909 Proband-Fam PubMed: Sujjitjoon 2015 Proband and affected daughter. Three sisters and one brother (all deceased) had diabetic retinopathy and nephropathy, with diabetes starting at ages 30 - 52. F ? Thailand - - 0 - - MODY-9 Diabetes mellitus (HP:0000819) 1 2 Jilani Jawaid
00218051 Proband-Fam PubMed: Jo 2011 Proband and affected father. M ? Japan - - 0 - insulin MODY-9 Hyperglycemia (HP:0003074), ketonuria (HP:0002919), reduced C-peptide level (HP:0030795) 1 2 Jilani Jawaid
00294315 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00294316 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00294317 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 33 Mohammed Faruq
00300310 - - - F - - - - 0 - - ? Maturity-onset diabetes of the young (HP:0004904) 1 1 Andreas Laner
Legend   How to query