RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4285893
Disease: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 		disease Disease or Syndrome 1 0.300 None 1.000 1 2019 2019
CUI: C3281223
Disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME 		disease Disease or Syndrome 2 1 0.020 None 1.000 2 2019 2019
CUI: C4552483
Disease: ABSSSI
ABSSSI 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4049573
Disease: Thrombotic vascular disease
Thrombotic vascular disease 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2005 2005
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2019 2019
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.300 None 1.000 1 2019 2019
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding) 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 0.300 None 1.000 1 2019 2019
CUI: C0751908
Disease: Vestibular Neuronitis
Vestibular Neuronitis 		disease Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2018 2018
CUI: C0019816
Disease: Hereditary, Type VII, Motor and Sensory Neuropathy
Hereditary, Type VII, Motor and Sensory Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2019 2019
CUI: C4255193
Disease: Bilateral Vestibulopathy
Bilateral Vestibulopathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 0.410 None 1.000 1 2019 2019
CUI: C1866753
Disease: Impaired horizontal smooth pursuit
Impaired horizontal smooth pursuit 		phenotype Finding 7 0.100 None 0
CUI: C1266166
Disease: Intracortical osteosarcoma
Intracortical osteosarcoma 		disease Neoplastic Process 13 0.010 None 1.000 1 2017 2017
CUI: C0853888
Disease: Hypocomplementaemia
Hypocomplementaemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2014 2014
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		phenotype Finding 15 6 0.100 None 0
CUI: C1832338
Disease: Axonal loss
Axonal loss 		phenotype Finding 16 0.100 None 0
CUI: C0694571
Disease: extranodal lymphoma
extranodal lymphoma 		disease Neoplastic Process 17 1 0.010 None 1.000 1 2004 2004
CUI: C0424790
Disease: Rigor - Temperature-associated observation
Rigor - Temperature-associated observation 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 24 0.010 None 1.000 1 2020 2020
CUI: C0271390
Disease: Nystagmus, End-Position
Nystagmus, End-Position 		disease Disease or Syndrome 26 2 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0920028
Disease: Leukaemia recurrent
Leukaemia recurrent 		disease Neoplasms Neoplastic Process 50 0.010 None 1.000 1 2013 2013
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.010 None 1.000 1 2014 2014
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 53 11 0.300 None 1.000 1 2019 2019
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		disease Cardiovascular Diseases Disease or Syndrome 58 5 0.010 None 1.000 1 2019 2019
CUI: C1843921
Disease: Postural instability
Postural instability 		phenotype Nervous System Diseases Finding 60 5 0.100 None 0
CUI: C0016412
Disease: Folic Acid Deficiency
Folic Acid Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 70 8 0.010 None 1.000 1 2008 2008