Research workflows

Which genes link renal cysts and diabetes?

Two phenotype searches found 13 shared genes. A ClinGen lookup added curated evidence for HNF1B.

Ask your AI client

Use GeneFoundry to find genes associated with renal cyst and diabetes mellitus in HPO, using exact terms without descendants. Retrieve every page and show the genes shared by both lists. Then check the ClinGen gene–disease validity evidence for HNF1B and link to the original curation.
Connect GeneFoundry first

The result

The complete HPO lists contained 129 renal-cyst genes and 222 diabetes-mellitus genes. Their intersection contained 13 genes, including HNF1B.

Exact HPO terms · release 23 June 2026
PhenotypeAssociated genes
Renal cyst · HP:0000107129
Diabetes mellitus · HP:0000819222
Shared by both lists13
The 13 shared genes
Gene
APPL1
GCK
GLIS3
HNF1A
HNF1B
HNF4A
INS
KCNJ11
MKKS
MT-CYB
PAX4
PEX1
PEX6
ClinGen gene–disease validity for HNF1B
FieldRecorded value
DiseaseRenal cysts and diabetes syndrome
Disease identifierMONDO:0007669
ClassificationDefinitive
InheritanceAutosomal dominant (AD)
Expert panelMonogenic Diabetes Gene Curation Expert Panel
Classification date19 January 2021
SourceOpen ClinGen curation

Both HPO lists use include_descendants=false. The diabetes list required two pages (200 + 22); the overlap was calculated from complete lists.

The ClinGen validity dataset identifies its version as 31 August 2026. Its source curation was classified in 2021; these dates describe different events.

Retrieved through Claude Code 2.1.261 · Claude Opus 5.

Original source records
How GeneFoundry got this

  1. Resolve “renal cysts”

    Resolve renal cyst to its HPO identifier.

    hpo_resolve_term

    {
  "query": "renal cyst"
}

  2. Resolve “diabetes mellitus”

    Resolve diabetes mellitus independently using the same HPO release.

    hpo_resolve_term

    {
  "query": "diabetes mellitus"
}

  3. Retrieve 129 renal-cyst gene associations

    Retrieve associations for the exact term, without descendant terms. The first page contains all 129 records.

    hpo_get_genes_for_phenotype

    {
  "hpo_id": "HP:0000107",
  "include_descendants": false,
  "limit": 200,
  "offset": 0,
  "response_mode": "minimal"
}

  4. Retrieve the first 200 diabetes gene associations

    Use the same exact-term scope. This page reports 222 total records and next_offset 200.

    hpo_get_genes_for_phenotype

    {
  "hpo_id": "HP:0000819",
  "include_descendants": false,
  "limit": 200,
  "offset": 0,
  "response_mode": "minimal"
}

  5. Complete the diabetes list and compare

    Fetch the remaining 22 records at offset 200. Compare the complete gene ID sets: 13 genes occur in both.

    hpo_get_genes_for_phenotype

    {
  "hpo_id": "HP:0000819",
  "include_descendants": false,
  "limit": 200,
  "offset": 200,
  "response_mode": "minimal"
}

  6. Resolve a separate gene of interest in ClinGen

    Resolve HNF1B, one of the genes in the recorded overlap, in ClinGen.

    clingen_search_genes

    {
  "query": "HNF1B"
}

  7. Read gene–disease validity assertions

    Read the returned gene–disease validity assertion and its source permalink.

    clingen_get_gene_validity

    {
  "gene_symbol": "HNF1B",
  "response_mode": "standard"
}

Shared phenotype associations identify research leads. The ClinGen classification applies to a gene–disease relationship, not a diagnosis or the pathogenicity of a specific variant.

Try it with your clientMore research workflows