RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy 		0.410 Biomarker disease HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.400 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234376
Disease: Action Tremor
Action Tremor 		0.100 Biomarker phenotype HPO
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		0.100 Biomarker phenotype HPO
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		0.100 Biomarker phenotype HPO
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.100 Biomarker disease HPO
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		0.100 Biomarker disease HPO
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 Biomarker disease HPO
CUI: C1832338
Disease: Axonal loss
Axonal loss 		0.100 Biomarker phenotype HPO
CUI: C1843921
Disease: Postural instability
Postural instability 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		0.100 Biomarker phenotype HPO
CUI: C0024282
Disease: Lymphocytosis
Lymphocytosis 		0.010 Biomarker disease BEFREE The results of the tests for lymphocyte RFC (E) and complement (EAC) rosette formation, immunofluorescence, in vitro phytohemagglutin (PHA) stimulation and 14C-cyclo-phosphamide binding assays, when evaluated in a combined and interrelated fashion, indicated that the lymphocytosis was mainly but not solely, due to an absolute elevation in circulating T lymphocytes. 1092166 1975