Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE In a previous study, we have described protein tyrosine phosphatase receptor type T, M, Z1 and Q genes (PTPRT, PTPRM, PTPRZ1 and PTPRQ) hypermethylated in sporadic colorectal cancer. 25169130 2014
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation disease BEFREE Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. 25788564 2015
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		0.100 CausalMutation disease CLINVAR
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE We present 3 patients with congenital sensorineural hearing loss (SNHL) caused by novel PTPRQ mutations, including clinical manifestations and phenotypic features. 25788564 2015
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.020 GeneticVariation disease BEFREE Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. 29849575 2018
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
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 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 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 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 A receptor-like inositol lipid phosphatase is required for the maturation of developing cochlear hair bundles. 14534255 2003
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 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: 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 CausalMutation disease CLINVAR
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		0.710 Biomarker disease CTD_human
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation disease BEFREE This is the third report of PTPRQ mutations involved in deafness and the first report of familial deafness in China. 25557914 2015
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 CausalMutation phenotype CLINVAR
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 CausalMutation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 CausalMutation phenotype CLINVAR