Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.310 Biomarker disease BEFREE Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27. 11337747 2001
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.310 Biomarker disease GENOMICS_ENGLAND Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits. 21989057 2012
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. 17304053 2007
CUI: C1845526
Disease: Mental Retardation, X-Linked 46
Mental Retardation, X-Linked 46 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
CUI: C3501611
Disease: Mental Retardation, X-Linked Nonsyndromic
Mental Retardation, X-Linked Nonsyndromic 		0.300 Biomarker disease CLINGEN Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 11017088 2000
CUI: C1845526
Disease: Mental Retardation, X-Linked 46
Mental Retardation, X-Linked 46 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0013132
Disease: Drooling
Drooling 		0.100 Biomarker phenotype HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0025037
Disease: Meckel Diverticulum
Meckel Diverticulum 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		0.100 Biomarker phenotype HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO