Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.400 strong 1.000 0 0 2011 2011
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.400 None 1.000 0 0 2009 2009
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		group 0.400 None 1.000 0 0 2007 2009
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.400 moderate 1.000 0 0 2007 2007
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease 0.130 None 1.000 0 0 2009 2016
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1837670
Disease: Progressive intervertebral space narrowing
Progressive intervertebral space narrowing 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1847609
Disease: Deficit in phonologic short-term memory
Deficit in phonologic short-term memory 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		disease 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.100 None 0 0