Tietz syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
TIETZ ALBINISM-DEAFNESS SYNDROME
103500
MITF Unknown — HPO
TIETZ SYNDROME
42665C0391816MESH:C536919MONDO:0007077
MITF Causal
10851256 8589691
CTD, ClinVar, Disgenet, Orphanet
TIETZE SYNDROME
MONDO_0001858
ABCC4 Unknown
39024449
GWAS catalog
GLYATL1 Unknown
39024449
GWAS catalog
LEMD3 Unknown
39024449
GWAS catalog
STIM2 Unknown
39024449
GWAS catalog
TIETZES SYNDROME
C0040213
MITF Unknown
10851256 8589691
Disgenet
All5 Causal1 Unknown5
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Buschke-ollendorff syndrome 1 shared geneLEMD3 Related via 1 shared gene including LEMD3. Dermatofibrosis lenticularis disseminata 1 shared geneLEMD3 Related via 1 shared gene including LEMD3. Osteopoikilosis 1 shared geneLEMD3 Related via 1 shared gene including LEMD3. Waardenburg syndrome type 2 1 shared geneMITF Related via 1 shared gene including MITF. 12q14 microdeletion syndrome 1 shared geneLEMD3 Related via 1 shared gene including LEMD3.