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disgenet.md

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1# DISGENET — Gene/variant–disease associations
2
3Use the current [DISGENET documentation](https://www.disgenet.com/docs) and
4[API/tools page](https://www.disgenet.com/Tools). The old disgenet.org API and
5email/password login recipes are not the current integration contract.
6
7Access is plan-dependent: the [Academic plan](https://www.disgenet.com/Plans)
8exposes the curated subset; full-dataset API access requires an appropriate
9subscription. Obtain a key and the current base URL, authorization-header
10syntax and endpoint schema from the account's API documentation before running
11requests. These authenticated details could not be independently verified in
12this review, so no speculative URL or token exchange is provided.
14For a reproducible retrieval, choose gene–disease (GDA) or variant–disease (VDA),
15resolve the input identifier, and save source filters, release, evidence rows,
16PMIDs, score fields and pagination metadata. Summary rows aggregate evidence;
17inspect supporting evidence before making a mechanistic claim.
19[Current score guidance](https://support.disgenet.com/support/solutions/articles/202000100283-what-are-the-gda-score-vda-score-disgenet-score-)
20removes the former cap at 1. Do not treat the raw DISGENET score as a probability,
21clamp it to [0,1], or confuse it with a normalized score. DSI measures disease
22specificity and DPI pleiotropy; neither is causal evidence.

DISGENET — Gene/variant–disease associations

Use the current DISGENET documentation and API/tools page. The old disgenet.org API and email/password login recipes are not the current integration contract.

Access is plan-dependent: the Academic plan exposes the curated subset; full-dataset API access requires an appropriate subscription. Obtain a key and the current base URL, authorization-header syntax and endpoint schema from the account's API documentation before running requests. These authenticated details could not be independently verified in this review, so no speculative URL or token exchange is provided.

For a reproducible retrieval, choose gene–disease (GDA) or variant–disease (VDA), resolve the input identifier, and save source filters, release, evidence rows, PMIDs, score fields and pagination metadata. Summary rows aggregate evidence; inspect supporting evidence before making a mechanistic claim.

Current score guidance removes the former cap at 1. Do not treat the raw DISGENET score as a probability, clamp it to [0,1], or confuse it with a normalized score. DSI measures disease specificity and DPI pleiotropy; neither is causal evidence.

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