Gene Symbol:
SFTPC
HGNC:10802
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
8p21.3
Filters:

Definitive classifications

surfactant metabolism dysfunction, pulmonary, 2
Submitted as: OMIM:610913
AD
06/23/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Strong classifications

surfactant metabolism dysfunction, pulmonary, 2
Submitted as: OMIM:610913
AD
03/04/2020
Evaluated
03/31/2021
Submitted
surfactant metabolism dysfunction, pulmonary, 2
Submitted as: OMIM:610913
AD
01/31/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

chronic respiratory distress with surfactant metabolism deficiency
Submitted as: Orphanet:217566
AD
09/14/2021
Evaluated
09/14/2021
Submitted
SFTPC- related interstitial lung disease
Submitted as: Orphanet:440392
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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