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: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		8 16 3 0.33 13 4.1E-02
CUI: C2931213
Disease: Usher syndrome, type 2C
Usher syndrome, type 2C 		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: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		1 276 1 0.25 234 0.66
CUI: C3152102
Disease: USH1D/F, CDH23/PCDH15, DIGENIC
USH1D/F, CDH23/PCDH15, DIGENIC 		1 0 1 0.25 0 0
CUI: C3275872
Disease: USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC 		1 0 1 0.25 0 0
CUI: C4021387
Disease: Abnormality of upper limb joint
Abnormality of upper limb joint 		1 1 1 0.25 1 3.2E-03
CUI: C4021549
Disease: Euthyroid hyperthyroxinemia
Euthyroid hyperthyroxinemia 		1 0 1 0.25 0 0
CUI: C4022454
Disease: Abnormality of upper limb bone
Abnormality of upper limb bone 		1 1 1 0.25 1 3.2E-03
CUI: C4023551
Disease: Abnormality of dental color
Abnormality of dental color 		11 0 3 0.25 0 0
CUI: C4693893
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 57
DEAFNESS, AUTOSOMAL RECESSIVE 57 		1 9 1 0.25 1 3.1E-03
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		12 7 3 0.23 1 3.1E-03
CUI: C0040127
Disease: Thyroid Crisis
Thyroid Crisis 		2 0 1 0.20 0 0
CUI: C1858493
Disease: FEBRILE CONVULSIONS, FAMILIAL, 4
FEBRILE CONVULSIONS, FAMILIAL, 4 		2 0 1 0.20 0 0
CUI: C1863340
Disease: PITUITARY ADENOMA PREDISPOSITION (disorder)
PITUITARY ADENOMA PREDISPOSITION (disorder) 		2 0 1 0.20 0 0
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: C2676439
Disease: USHER SYNDROME, TYPE IIB, FORMERLY
USHER SYNDROME, TYPE IIB, FORMERLY 		2 0 1 0.20 0 0
CUI: C3148929
Disease: USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC 		2 0 1 0.20 0 0
CUI: C3150654
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A 		2 0 1 0.20 0 0
CUI: C3874334
Disease: Severe hearing loss
Severe hearing loss 		2 4 1 0.20 2 6.3E-03
CUI: C4539685
Disease: PITUITARY ADENOMA 5, MULTIPLE TYPES
PITUITARY ADENOMA 5, MULTIPLE TYPES 		2 0 1 0.20 0 0
CUI: C0036454
Disease: Scotoma
Scotoma 		21 0 4 0.19 0 0
CUI: C4023018
Disease: Subcortical cerebral atrophy
Subcortical cerebral atrophy 		22 0 4 0.18 0 0