SOBP, sine oculis binding protein homolog, 55084

N. diseases: 15; N. variants: 2
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
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.310 Biomarker group PSYGENET This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans. 21035105 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.310 Biomarker group BEFREE This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans. 21035105 2010
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.310 Biomarker disease PSYGENET This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans. 21035105 2010
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.310 Biomarker disease BEFREE This study shows mutated SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans. 21035105 2010
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO
CUI: C0266061
Disease: Open Bite
Open Bite 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1848207
Disease: Poor speech
Poor speech 		0.100 Biomarker phenotype HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation group BEFREE Among them, the IERs involved in SOBP (6q21) exon 2 and 3 and AUTS2 (7q11.22) exon 2-4 were the molecular lesions specific to tumors and were frequently detected in B-NHL samples. 31686349 2020
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 GeneticVariation group BEFREE Recurrent intragenic exon rearrangements of SOBP and AUTS2 in non-Hodgkin B-cell lymphoma. 31686349 2020
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		0.010 Biomarker disease BEFREE In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. 21035105 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE We report on the identification of a truncating mutation in the SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. 21035105 2010