NSUN2, NOP2/Sun RNA methyltransferase 2, 54888

N. diseases: 173; N. variants: 5
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2019 2019
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0277828
Disease: Late fontanel closure
Late fontanel closure
phenotype Finding 41 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0423867
Disease: Fine hair
Fine hair
phenotype Finding 69 1 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
phenotype Finding 67 11 0.100 None 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality
phenotype Finding 74 1 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 105 10 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 182 12 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0