Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 20346435 2010
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 Biomarker disease BEFREE Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. 20472657 2010
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 GeneticVariation disease UNIPROT Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 20346435 2010
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 GeneticVariation disease UNIPROT Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. 20472657 2010
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 CausalMutation disease CLINVAR
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 Biomarker disease CTD_human
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family. 25919374 2015
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. 24285636 2014
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN A reduction in Ptprq associated with specific features of the deafness phenotype of the miR-96 mutant mouse diminuendo. 24446963 2014
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Hair bundle defects and loss of function in the vestibular end organs of mice lacking the receptor-like inositol lipid phosphatase PTPRQ. 22357859 2012
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. 20346435 2010
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84. 20472657 2010
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN Dynamic compartmentalization of protein tyrosine phosphatase receptor Q at the proximal end of stereocilia: implication of myosin VI-based transport. 18412156 2008
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		0.300 Biomarker disease CLINGEN A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 14534255 2003
CUI: C3542022
Disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation phenotype CLINVAR
CUI: C0030193
Disease: Pain
Pain 		0.100 CausalMutation phenotype CLINVAR
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 CausalMutation phenotype CLINVAR
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.100 CausalMutation disease CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1836843
Disease: Progressive inability to walk
Progressive inability to walk 		0.100 CausalMutation phenotype CLINVAR
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		0.100 Biomarker phenotype HPO