Urofacial syndrome

Log in to bookmark this disease

Bookmark This Disease

Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
UROFACIAL SYNDROME
2704MESH:C536480
HPSE2 Unknown
20560209 23967498
CTD, Orphanet
LRIG2 Unknown
23313374 23967498
CTD, Orphanet
UROFACIAL SYNDROME 1
236730
HPSE2 Unknown — HPO
UROFACIAL SYNDROME 2
615112C3554520MONDO:0014049
LRIG2 Causal
23313374 24023893
ClinVar, Disgenet, GWAS catalog, HPO
UROFACIAL SYNDROME TYPE 1
MONDO:0009368
HPSE2 Causal
11446407 19839856 20560210 19669792
ClinVar, GWAS catalog
All2 Causal2 Unknown2
Related Diseases Diseases that share the most curated genes with Urofacial syndrome.
5 View disease cluster →
Ochoa syndrome 2 shared genesHPSE2, LRIG2 Related via 2 shared genes including HPSE2, LRIG2. Multinodular goiter 1 shared geneHPSE2 Related via 1 shared gene including HPSE2. Congenital anomalies of the kidney and urinary tract 1 shared geneHPSE2 Related via 1 shared gene including HPSE2. Gestational diabetes 1 shared geneHPSE2 Related via 1 shared gene including HPSE2. Peripheral neuropathy 1 shared geneHPSE2 Related via 1 shared gene including HPSE2.