SHROOM4, shroom family member 4, 57477

N. diseases: 42; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		0.700 Biomarker disease GENOMICS_ENGLAND Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. 20613765 2010
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		0.700 GermlineCausalMutation disease ORPHANET Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. 16249884 2006
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		0.700 GeneticVariation disease UNIPROT Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. 16249884 2006
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		0.700 CausalMutation disease CLINVAR
CUI: C1845530
Disease: Stocco dos Santos syndrome
Stocco dos Santos syndrome 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.340 Biomarker group BEFREE SHROOM4, which is partially deleted in this patient, is involved in neuronal development and was shown to be associated with X-linked intellectual disability. 30630535 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.340 Biomarker group BEFREE Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA<sub>B</sub>Rs shapes inhibitory neurotransmission. 28262662 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.340 Biomarker group BEFREE Atypical microduplications allowed us to identify minimal critical regions that might be responsible for specific clinical findings of the syndrome and to suggest possible candidate genes: FTSJ1 and SHROOM4 for intellectual disability along with PQBP1 and SLC35A2 for epilepsy. 25425167 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.340 Biomarker group GENOMICS_ENGLAND Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis. 20613765 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.340 Biomarker group BEFREE Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt the novel human KIAA1202 (hKIAA1202) gene in both cases. 16249884 2006
CUI: C0036572
Disease: Seizures
Seizures 		0.110 AlteredExpression phenotype BEFREE Knockdown of Shrm4 in rat severely impairs GABA<sub>B</sub>R activity causing increased anxiety-like behaviour and susceptibility to seizures. 28262662 2017
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease BEFREE Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mild to severe ID, speech delay +/- dysarthria, attention deficit disorder, precocious puberty, constipation, and motor delay. 26692240 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease GWASDB A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. 20852631 2010
CUI: C0006325
Disease: Bruxism
Bruxism 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO