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Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
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Subtype of:
Radioulnar synostosis
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Pathways column key:
KEGG
Reactome
Disease terms
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
MONDO_0011555
HOXA11
Causal
11101832
16765069
26581901
ClinGen
,
Open Targets
Transcriptional misregulation in cancer
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
MONDO_0011555
MECOM
Unknown
26581901
Open Targets
Lysine degradation
Metabolic pathways
MAPK signaling pathway
Pathways in cancer
Chronic myeloid leukemia
PKMTs methylate histone lysines
Regulation of PTEN gene transcription
+4 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
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5
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MECOM-associated syndrome
1 shared gene
MECOM
Related via 1 shared gene including MECOM.
Hypocellular bone marrow
1 shared gene
MECOM
Related via 1 shared gene including MECOM.
Digit abnormalities
1 shared gene
MECOM
Related via 1 shared gene including MECOM.
B-cell lymphopenia
1 shared gene
MECOM
Related via 1 shared gene including MECOM.
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
1 shared gene
MECOM
Related via 1 shared gene including MECOM.
1
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