HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
Disease: Mobius Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.030 GeneticVariation disease BEFREE Participants underwent standardized ophthalmologic examination for Moebius syndrome minimum diagnostic criteria (MDC) (congenital, nonprogressive facial palsy, and abduction deficit) and genetic testing for HOXA1, HOXB1, and TUBB3 mutations. 24612975 2014
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.030 GeneticVariation disease BEFREE A clinical misdiagnosis is unlikely in the absence of facial weakness (typical of Moebius syndrome), deafness (typical of the HOXA1 spectrum), or mental retardation (typical of other central decussation abnormalities). 21510772 2011
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.030 GeneticVariation disease BEFREE Our results suggest that HOXA1 mutations are not a common cause of sporadic Möbius syndrome in the general population. 20227628 2010