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: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle 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: C1806780
Disease: Increased CSF protein
Increased CSF protein 		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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C1623038
Disease: Cirrhosis
Cirrhosis 		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: C1384666
Disease: hearing impairment
hearing impairment 		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: C0427065
Disease: Distal muscle weakness
Distal muscle 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: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		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
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B 		ribonucleotide reductase regulatory TP53 inducible subunit M2B 0.527 0.769 2.4E-03
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		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