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: C3809181
Disease: Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004)
Caused by mutation in the TBC1 domain family, member 24 gene (TBC1D24, 613577.0004) 		1 6 1 1.00 6 0.60
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		12 30 1 8.3E-02 6 0.18
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		4 11 1 0.25 3 0.17
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		1 5 1 1.00 2 0.15
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		1 7 1 1.00 2 0.13
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		9 9 1 0.11 2 0.12
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		4 11 1 0.25 2 0.11
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		67 11 1 1.5E-02 2 0.11
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		56 15 1 1.8E-02 2 8.7E-02
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		11 6 1 9.1E-02 1 6.7E-02
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		117 30 1 8.5E-03 2 5.3E-02
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		66 22 1 1.5E-02 1 3.2E-02
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 131 1 9.6E-03 2 1.4E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		163 66 1 6.1E-03 1 1.3E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		211 411 1 4.7E-03 2 4.8E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 1 4.6E-04 2 3.6E-03
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		87 0 1 1.1E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 0 1 5.7E-03 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.2E-03 0 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		6941 0 1 1.4E-04 0 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 0 1 1.2E-04 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 2.3E-03 0 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		611 0 1 1.6E-03 0 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		285 0 1 3.5E-03 0 0