Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 1 2.5E-04 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 1 2.5E-04 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 1 2.5E-04 0 0
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		20 0 1 2.5E-04 0 0
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		20 0 1 2.5E-04 0 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		19 0 1 2.5E-04 0 0
CUI: C1969156
Disease: EEG with burst suppression
EEG with burst suppression 		19 0 1 2.5E-04 0 0
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		18 0 1 2.5E-04 0 0
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		18 0 1 2.5E-04 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 1 2.5E-04 0 0
CUI: C2230441
Disease: Triceps weakness
Triceps weakness 		18 0 1 2.5E-04 0 0
CUI: C4023499
Disease: Generalized clonic seizures
Generalized clonic seizures 		18 0 1 2.5E-04 0 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure 		17 0 1 2.5E-04 0 0
CUI: C1844906
Disease: Broad finger
Broad finger 		17 0 1 2.5E-04 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 1 2.5E-04 0 0
CUI: C0266539
Disease: Congenital total cataract
Congenital total cataract 		16 0 1 2.5E-04 0 0
CUI: C1859722
Disease: Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 1 		16 0 1 2.5E-04 0 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		16 0 1 2.5E-04 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 2.5E-04 0 0
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		15 0 1 2.5E-04 0 0
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		15 0 1 2.5E-04 0 0
CUI: C3278322
Disease: Cerebellar dysplasia
Cerebellar dysplasia 		15 0 1 2.5E-04 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 1 2.5E-04 0 0
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		15 0 1 2.5E-04 0 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail 		15 0 1 2.5E-04 0 0