FLI1

Fli-1 proto-oncogene, ETS transcription factor

4 disorders 2 causative 1 no genetic record 1 somatic driver 11q24.3 gene with protein product

HGNC:3749 Monarch NCBI Gene 2313 ENSG00000151702 UniProt Q01543 OMIM 193067

Aliases: SIC-1, EWSR2, FLI-1.

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
Bleeding disorder, platelet-type, 21	causative germline loss of function	mechanism: FLI1 DNA-Binding Domain Dysfunction
Jacobsen Syndrome	causative
Kidney Sarcoma	somatic driver	scoped to subtype: Renal Ewing Sarcoma
Ewing Sarcoma	no genetic record somatic	mechanism: EWS-FLI1 Chromatin Hub Dynamics; EWS-FLI1 Fusion Oncogene discussion: (unnamed)

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
bleeding disorder, platelet-type, 21 MONDO:0054577	AD	Moderate 2023-09-06	Bleeding disorder, platelet-type, 21 causative

Mechanism modules · computed from kb/

primary_hemostatic_plug_failure via Bleeding disorder, platelet-type, 21

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