Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		0.100 Biomarker phenotype HPO
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		0.100 Biomarker phenotype HPO
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		0.100 Biomarker phenotype HPO
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 Biomarker phenotype HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 Biomarker disease BEFREE ARTS functions as a tumor suppressor in Acute Lymphoblastic Leukemia (ALL) and is lost in more than 70% of leukemic patients. 15254396 2004
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 Biomarker disease BEFREE ARTS functions as a tumor suppressor in Acute Lymphoblastic Leukemia (ALL) and is lost in more than 70% of leukemic patients. 15254396 2004
CUI: C4024743
Disease: Aplasia/Hypoplasia of the optic nerve
Aplasia/Hypoplasia of the optic nerve 		0.100 Biomarker phenotype HPO
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		0.100 Biomarker phenotype HPO
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE Thus, the authors conclude that ARTS may possess utility as a prognostic marker, as well as a therapeutic tool, for patients with astrocytoma. 15517578 2004
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease GENOMICS_ENGLAND
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 GeneticVariation disease BEFREE Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis is still unclear. 31487280 2019
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 GeneticVariation disease BEFREE Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5). 23190330 2013
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease BEFREE Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. 26089585 2015
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 GeneticVariation disease BEFREE The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). 24961627 2015
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease CTD_human
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease GENOMICS_ENGLAND Mapping of DFN2 to Xq22. 8968763 1996
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease BEFREE Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500). 25491489 2014
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 Biomarker disease GENOMICS_ENGLAND X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 8498830 1993
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 GeneticVariation disease BEFREE Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 27256512 2016
CUI: C0796028
Disease: ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 		0.770 GeneticVariation disease UNIPROT Arts syndrome is caused by loss-of-function mutations in PRPS1. 17701896 2007