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Smith-mccort dysplasia
Smith-mccort dysplasia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
SMITH-MCCORT DYSPLASIA 1
607326
C3888088
MONDO:0011814
DYM
Causal
12491225
16097008
16326827
18996921
19005420
26633542
27124789
30919572
ClinVar
,
Disgenet
,
GWAS catalog
,
HPO
—
SMITH-MCCORT DYSPLASIA 2
615222
C3714896
MONDO:0014087
RAB33B
Causal
22652534
23042644
28127940
34000439
34284742
ClinVar
,
Disgenet
,
HPO
Autophagy - animal
Intra-Golgi traffic
TBC/RABGAPs
RAB geranylgeranylation
+1 more
All
2
Causal
2
Unknown
2
Select all
Clear
ClinVar
2
Orphanet
0
Disgenet
2
CTD
0
HPO
2
GWAS catalog
1
GenCC
0
ClinGen
0
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