0 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activitynegative regulation of proteolysisextracellular regionimmunodeficiency 19agammaglobulinemia 7, autosomal recessivemonocytopenia with susceptibility to infectionsghosal hematodiaphyseal dysplasia
AI summary not yet available. Showing NCBI Gene summary.
serine peptidase inhibitor Kazal type 14 (putative)
β Limited data available β This gene has 0 indexed publications. Summary and analysis may be incomplete.
immunodeficiency 19Open Targets
agammaglobulinemia 7, autosomal recessiveOpen Targets
monocytopenia with susceptibility to infectionsOpen Targets
ghosal hematodiaphyseal dysplasiaOpen Targets
combined immunodeficiency due to partial RAG1 deficiencyOpen Targets
Combined immunodeficiency T+ B+ due to partial RAG1 deficiencyOpen Targets
immunodeficiency 18Open Targets
immunoglobulin A deficiency 2Open Targets
severe combined immunodeficiency due to IKK2 deficiencyOpen Targets
X-Linked Combined Immunodeficiency DiseasesOpen Targets
Cernunnos-XLF deficiencyOpen Targets
severe combined immunodeficiency due to LAT deficiencyOpen Targets
immunodeficiency 67Open Targets
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
pyogenic bacterial infections due to MyD88 deficiencyOpen Targets
immunodeficiency 105Open Targets
immunodeficiency 112Open Targets
reticular dysgenesisOpen Targets
Neutropenia - monocytopenia - deafnessOpen Targets
neutropenia-monocytopenia-deafness syndromeOpen Targets
No pathogenic variants reported on ClinVar for this gene.