SOBP, sine oculis binding protein homolog, 55084

N. diseases: 15; N. variants: 2
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150924
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 		0.610 Biomarker disease GENOMICS_ENGLAND SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. 21035105 2010
CUI: C3150924
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 		0.610 Biomarker disease BEFREE We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus). 17618476 2007
CUI: C3150924
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 		0.610 Biomarker disease GENOMICS_ENGLAND We have been unable to find a similar disorder in the literature, and suggest that this is a hitherto unreported autosomal recessive disorder, which we propose to name MRAMS (mental retardation, anterior maxillary protrusion, and strabismus). 17618476 2007
CUI: C3150924
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 		0.610 CausalMutation disease CLINVAR
CUI: C3150924
Disease: MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 		0.610 Biomarker disease CTD_human