rs121918544, TINF2

N. diseases: 7
Disease: REVESZ SYNDROME (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
REVESZ SYNDROME (disorder)
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
0.810 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
REVESZ SYNDROME (disorder)
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
0.810 GeneticVariation UNIPROT Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230 2008
REVESZ SYNDROME (disorder)
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
0.810 CausalMutation CLINVAR