Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
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
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: C4693893
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 57
DEAFNESS, AUTOSOMAL RECESSIVE 57
1 9 1 0.25 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
PITUITARY ADENOMA PREDISPOSITION (disorder)
2 0 1 0.20 0 0
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
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
Atopic IgE-mediated allergic disorder
3 0 1 0.17 0 0
Superior semicircular canal dehiscence syndrome
3 0 1 0.17 0 0
CUI: C3276419
Disease: USHER SYNDROME, TYPE ID/F, DIGENIC
USHER SYNDROME, TYPE ID/F, DIGENIC
3 0 1 0.17 0 0
CUI: C0854021
Disease: Abnormal visual field test
Abnormal visual field test
4 0 1 0.14 0 0
CUI: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12
4 57 1 0.14 1 2.7E-03
Chromosome 17q21.31 Deletion Syndrome
4 0 1 0.14 0 0