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PKHD1 and diabetes mellitus are reported together in 1 article.
Gene
PKHD1
- HGNC
- HGNC:9016
8articles
8mentions
10variants with confirmed gene link (top 10)
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Diabetes mellitus
2,156articles
2,156mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.
PMID 38303767 | PMCID PMC10829776 | DOI 10.1016/j.aace.2023.10.004 · AACE clinical case reports · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PKHD1 | “There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Not All Diabetic Ketoacidosis in Infant Is Type 1: A Case Report Permanent Neonatal Diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | INS | “There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “There are limited cases of neonates with DKA who have heterozygous mutations in INS and PKHD1 genes, especially in Saudi Arabia. We present a case of neonatal diabetes with diabetic ketoacidosis (DKA) born to consanguineous parents in Saudi Arabia. CASE REPORT: A six-month-old boy born to consanguineous parents with a family history of neonatal diabetes was diagnosed with DKA.” | 0.95 | saudi_context_rules_v1 |