AMPD2, adenosine monophosphate deaminase 2, 271

N. diseases: 60; N. variants: 10
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: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
disease Disease or Syndrome 2 7 0.730 None 1.000 6 7 2013 2020
SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 0.600 moderate 1.000 2 2014 2016
Congenital pontocerebellar hypoplasia
disease Nervous System Diseases Congenital Abnormality 32 7 0.320 strong 1.000 2 2013 2018
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.120 None 1.000 2 2018 2019
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
phenotype Finding 477 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.100 None 0
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna
phenotype Finding 85 9 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 391 49 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C3810365
Disease: Central visual impairment
Central visual impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 158 1 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Abnormality of the periventricular white matter
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 156 25 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly
phenotype Finding 67 4 0.100 None 0
CUI: C1848977
Disease: Short upper lip
Short upper lip
phenotype Finding 12 1 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0