Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Common Variable Immunodeficiency | causative |
mechanism: Defective B Cell Differentiation and Class-Switch Recombination
subtype: CVID15
scoped to subtype: CVID15
|
| SEC61A1 Deficiency |
untyped
Heterozygous loss-of-function and possibly dominant-negative variants; ClinGen Moderate gene-disease validity.
germline
loss of function
CLINGEN: moderate
|
mechanism: Heterozygous SEC61A1 Variants
subtype: ADTKD-SEC61A1; CVID15; SCN11
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| SEC61A1 deficiency MONDO:0100337 | AD | Moderate 2021-07-27 |
SEC61A1 Deficiency
untyped
|
Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.