Disease: TARSAL-CARPAL COALITION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.030 GeneticVariation disease BEFREE SPG11 (<i>KIAA1840</i>) and SPG15 (<i>ZFYVE26</i>) are the most common ARHSPs with thin corpus callosum (TCC). 31385551 2019
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.030 GeneticVariation disease BEFREE Kjellin syndrome is characterized by central retinal degeneration in addition to ARHSP-TCC and the disease is associated with mutations in the SPG15 gene. 19194956 2009
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		0.030 Biomarker disease BEFREE TCC seems to be the best phenotypic predictor for SPG11 as well as SPG15. 19917823 2009