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: C3887548
Disease: Central Apnea
Central Apnea 		8 2 2 0.14 1 0.25
CUI: C0033132
Disease: Cerebellar Degenerations, Primary
Cerebellar Degenerations, Primary 		1 0 1 0.12 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 0 1 0.12 0 0
CUI: C0270755
Disease: Corticostriatal-Spinal Degeneration
Corticostriatal-Spinal Degeneration 		1 0 1 0.12 0 0
CUI: C0495694
Disease: Dysarthria and anarthria
Dysarthria and anarthria 		1 0 1 0.12 0 0
CUI: C3554499
Disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE 		1 0 1 0.12 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 0 1 0.12 0 0
CUI: C4016882
Disease: SPASTIC PARAPLEGIA 4, MODIFIER OF
SPASTIC PARAPLEGIA 4, MODIFIER OF 		1 0 1 0.12 0 0
CUI: C4023465
Disease: EEG with occipital slowing
EEG with occipital slowing 		1 1 1 0.12 1 0.33
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 0 1 0.12 0 0
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.12 0 0
CUI: C4225360
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 		1 5 1 0.12 1 0.14
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand 		1 0 1 0.12 0 0
CUI: C4479673
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 		1 0 1 0.12 0 0
CUI: C4551756
Disease: Waldenstrom's macroglobulinaemia refractory
Waldenstrom's macroglobulinaemia refractory 		1 0 1 0.12 0 0
CUI: C4706556
Disease: Hypotonia, speech impairment, severe cognitive delay syndrome
Hypotonia, speech impairment, severe cognitive delay syndrome 		1 0 1 0.12 0 0
CUI: C4751505
Disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments
PRKAR1B-related neurodegenerative dementia with intermediate filaments 		1 0 1 0.12 0 0
CUI: C0013691
Disease: Chylous effusion
Chylous effusion 		2 0 1 0.11 0 0
CUI: C0523697
Disease: Histidine measurement
Histidine measurement 		2 0 1 0.11 0 0
CUI: C1260966
Disease: Central odontogenic fibroma
Central odontogenic fibroma 		2 0 1 0.11 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		2 0 1 0.11 0 0
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		2 0 1 0.11 0 0
CUI: C1853247
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		2 0 1 0.11 0 0
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		2 0 1 0.11 0 0
CUI: C1866245
Disease: Hyperpigmented streaks
Hyperpigmented streaks 		2 0 1 0.11 0 0