Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

8200

Name

GDF5

Synonymous

BDA1C|BMP14|CDMP1|LAP4|OS5|SYNS2;growth differentiation factor 5;GDF5;growth differentiation factor 5

Definition

CDMP-1|GDF-5|cartilage-derived morphogenetic protein-1|growth/differentiation factor 5|radotermin

Position

20q11.2

Gene Type

protein-coding

Gene Mutation:

GWAS results
PAH samples
Lung cancer

GWAS results   [Top]

There is no record for GDF5

Lung cancer   [Top]

Mutation (Type; AA; Chr)

Site

Histology

p.Q489K; chr20:34021748-34021748

lungadenocarcinoma; carcinoma

p.D211V; chr20:34022581-34022581

lungsquamous_cell_carcinoma; carcinoma

p.R50K; chr20:34025560-34025560

lungsquamous_cell_carcinoma; carcinoma

p.P108T; chr20:34025387-34025387

lungsquamous_cell_carcinoma; carcinoma

p.S481C; chr20:34021771-34021771

lungadenocarcinoma; carcinoma

p.T386P; chr20:34022057-34022057

lungadenocarcinoma; carcinoma

p.Q489K; chr20:34021748-34021748

lungadenocarcinoma; carcinoma

p.R380Q; chr20:34022074-34022074

lungadenocarcinoma; carcinoma

p.E459*; chr20:34021838-34021838

lungsquamous_cell_carcinoma; carcinoma

p.D366Y; chr20:34022117-34022117

lungadenocarcinoma; carcinoma

p.R381L; chr20:34022071-34022071

lungadenocarcinoma; carcinoma


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