UBE2A, ubiquitin conjugating enzyme E2 A, 7319

N. diseases: 96; 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: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.110 None 1.000 9 1 2006 2018
CUI: C1849265
Disease: Overgrowth
Overgrowth
phenotype Finding 103 93 0.100 None 1.000 8 1 2006 2017
MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
disease Disease or Syndrome 1 4 0.700 definitive 1.000 7 4 2006 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 2010 2010
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
disease Disease or Syndrome 77 1 0.110 None 1.000 1 2018 2018
CUI: C0152421
Disease: Macrotia
Macrotia
disease Congenital Abnormality 188 18 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead
phenotype Finding 211 17 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
phenotype Finding 216 16 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck
phenotype Finding 288 29 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
CUI: C0743360
Disease: Recurrent ear infections
Recurrent ear infections
group Finding 11 1 0.100 None 0
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype Finding 96 19 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype Congenital Abnormality 79 8 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 42 5 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges
phenotype Finding 41 10 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive
phenotype Finding 172 1 0.100 None 0
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons
phenotype Finding 30 3 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck
phenotype Finding 22 10 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 86 11 0.100 None 0
CUI: C1856119
Disease: Low hanging columella
Low hanging columella
phenotype Finding 17 1 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0