Disease: SYMPHALANGISM, PROXIMAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. 31370824 2019
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE We have identified five dominant human NOG mutations in unrelated families segregating proximal symphalangism (SYM1; OMIM 185800) and a de novo mutation in a patient with unaffected parents. 10080184 1999
CUI: C1861385
Disease: SYMPHALANGISM, PROXIMAL
SYMPHALANGISM, PROXIMAL 		0.030 GeneticVariation disease BEFREE Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. 7557985 1995