SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: Dermoid choristoma of eye proper ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1867616
Disease: Dermoid choristoma of eye proper
Dermoid choristoma of eye proper 		0.020 GeneticVariation disease BEFREE This case adds to the current knowledge of ophthalmic associations with SALL1 mutations; features characteristic of SALL1 mutations and others more commonly associated with SALL4 mutations (2) (epibulbar dermoid and Duane) being present. 19005989 2008
CUI: C1867616
Disease: Dermoid choristoma of eye proper
Dermoid choristoma of eye proper 		0.020 GeneticVariation disease BEFREE The younger daughter is the first patient with a SALL1 mutation to exhibit a classic Goldenhar syndrome-like phenotype with an epibulbar dermoid. 17431915 2007