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Details of TBCE gene in Homo sapiens
Disease |
Disease |
OMIM id |
Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: Similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections. Note=The disease is caused by mutations affecting the gene represented in this entry. |
244460 |
Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]: Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. Note=The disease is caused by mutations affecting the gene represented in this entry. |
241410 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Tbce | tbce | K07H8.1 | --- |