FAN1

FANCD2 and FANCI associated nuclease 1

3 disorders 2 untyped 1 no genetic record 15q13.3 gene with protein product

HGNC:29170 Monarch NCBI Gene 22909 ENSG00000198690 UniProt Q9Y2M0 OMIM 613534

Previous symbols: KIAA1018, MTMR15.

In the knowledge base · computed from kb/ at build time

Disorders

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
Huntington Disease	untyped Modifier
Karyomegalic Interstitial Nephritis	untyped Causative germline loss of function	mechanism: Biallelic FAN1 Loss of Function
Myotonic Dystrophy Type 1	no genetic record	mechanism: Somatic CTG Repeat Expansion (DMPK)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
karyomegalic interstitial nephritis MONDO:0013898	AR	Definitive 2026-03-11	Karyomegalic Interstitial Nephritis untyped

Mechanism modules · computed from kb/

mismatch_repair_driven_repeat_instability via Myotonic Dystrophy Type 1 named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.