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: C2676439
Disease: USHER SYNDROME, TYPE IIB, FORMERLY
USHER SYNDROME, TYPE IIB, FORMERLY 		2 0 2 0.50 0 0
CUI: C3148929
Disease: USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC 		2 0 2 0.50 0 0
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		4 0 2 0.33 0 0
CUI: C0406821
Disease: Rhabdomyomatous mesenchymal hamartoma
Rhabdomyomatous mesenchymal hamartoma 		1 0 1 0.25 0 0
CUI: C1274890
Disease: Midline cervical cleft
Midline cervical cleft 		1 0 1 0.25 0 0
CUI: C2959380
Disease: Folliculosebaceous cystic hamartoma
Folliculosebaceous cystic hamartoma 		1 0 1 0.25 0 0
CUI: C4693893
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 57
DEAFNESS, AUTOSOMAL RECESSIVE 57 		1 0 1 0.25 0 0
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		8 0 2 0.20 0 0
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		2 4 1 0.20 3 0.10
CUI: C1969656
Disease: MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder)
MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4 (disorder) 		2 0 1 0.20 0 0
CUI: C2875301
Disease: Dominantly inherited sensory neuropathy
Dominantly inherited sensory neuropathy 		2 0 1 0.20 0 0
CUI: C1706410
Disease: Atopic IgE-mediated allergic disorder
Atopic IgE-mediated allergic disorder 		3 0 1 0.17 0 0
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		11 0 2 0.15 0 0
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		12 7 2 0.14 1 2.9E-02
CUI: C0740749
Disease: Chronic metabolic acidosis
Chronic metabolic acidosis 		6 0 1 0.11 0 0
CUI: C3203509
Disease: Neuropsychiatric syndrome
Neuropsychiatric syndrome 		6 0 1 0.11 0 0
CUI: C4551957
Disease: Epilepsy, Familial Temporal Lobe 1
Epilepsy, Familial Temporal Lobe 1 		7 0 1 1.0E-01 0 0
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure 		8 0 1 9.1E-02 0 0
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		8 0 1 9.1E-02 0 0
CUI: C2129214
Disease: Loose stool
Loose stool 		8 0 1 9.1E-02 0 0
CUI: C0036454
Disease: Scotoma
Scotoma 		21 0 2 8.7E-02 0 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		22 0 2 8.3E-02 0 0
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		23 5 2 8.0E-02 1 3.1E-02
CUI: C1844690
Disease: Limited knee extension
Limited knee extension 		11 0 1 7.1E-02 0 0
CUI: C0239295
Disease: Candidiasis of the esophagus
Candidiasis of the esophagus 		12 0 1 6.7E-02 0 0