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Microphthalmia, isolated, with coloboma 7
Microphthalmia, isolated, with coloboma 7
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Subtype of:
Microphthalmia
·
Microphthalmia, isolated, with coloboma
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
microphthalmia, isolated, with coloboma 7
MONDO:0013783
MONDO_0013377
ABCB6
Causal
22226084
ClinGen
ABC transporters
Mitochondrial ABC transporters
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
GDF3
Unknown
19864492
24281366
29260090
Open Targets
Cytokine-cytokine receptor interaction
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
1
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Dyschromatosis symmetrica hereditaria
1 shared gene
ABCB6
Related via 1 shared gene including ABCB6.
Cleft eyelid
1 shared gene
ABCB6
Related via 1 shared gene including ABCB6.
Congenital iris coloboma
1 shared gene
ABCB6
Related via 1 shared gene including ABCB6.
Coloboma
1 shared gene
ABCB6
Related via 1 shared gene including ABCB6.
Colobomatous microphthalmia
1 shared gene
ABCB6
Related via 1 shared gene including ABCB6.
1
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