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Urofacial syndrome
Urofacial syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
UROFACIAL SYNDROME 2
615112
C3554520
MONDO:0014049
LRIG2
Causal
23313374
24023893
ClinVar
,
Disgenet
,
GWAS catalog
,
HPO
Axon guidance
UROFACIAL SYNDROME TYPE 1
MONDO:0009368
HPSE2
Causal
11446407
19839856
20560210
19669792
ClinVar
,
GWAS catalog
Glycosaminoglycan degradation
Metabolic pathways
Proteoglycans in cancer
HS-GAG degradation
+1 more
All
2
Causal
2
Unknown
2
Select all
Clear
ClinVar
2
Orphanet
0
Disgenet
1
CTD
0
HPO
1
GWAS catalog
2
GenCC
0
ClinGen
0
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1
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