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: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4021991
Disease: Abnormality of the astrocytes
Abnormality of the astrocytes 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		disease 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4280736
Disease: Large knee
Large knee 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C2749625
Disease: Motor axonal neuropathy
Motor axonal neuropathy 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C2674432
Disease: Reduced bone mineral density
Reduced bone mineral density 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		phenotype 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0