Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C4014354
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
PONTOCEREBELLAR HYPOPLASIA, TYPE 9 		0.730 CausalMutation CLINVAR

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation CLINVAR

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0231698
Disease: Gait, Scissors
Gait, Scissors 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.100 GeneticVariation CLINVAR

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C1262477
Disease: Weight decreased
Weight decreased 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		0.100 Biomarker HPO

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.100 Biomarker HPO