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: C0265336
Disease: Senter syndrome
Senter syndrome
4 30 4 0.80 11 0.35
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b
2 16 2 0.40 2 7.7E-02
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
3 0 2 0.33 0 0
Progressive hearing loss stapes fixation
4 35 2 0.29 2 4.4E-02
CUI: C1861326
Disease: Stapes ankylosis
Stapes ankylosis
4 0 2 0.29 0 0
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
4 98 2 0.29 4 3.8E-02
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
4 0 2 0.29 0 0
CUI: C0010334
Disease: Crisscross Heart
Crisscross Heart
1 0 1 0.20 0 0
CUI: C0031557
Disease: Phlegmon
Phlegmon
1 0 1 0.20 0 0
CUI: C0155526
Disease: Cochlear otosclerosis
Cochlear otosclerosis
1 0 1 0.20 0 0
CUI: C0232259
Disease: Mid-systolic murmur
Mid-systolic murmur
1 0 1 0.20 0 0
Knuckle pads, leuconychia and sensorineural deafness
1 21 1 0.20 2 6.5E-02
CUI: C0280301
Disease: Hard Palate Squamous Cell Carcinoma
Hard Palate Squamous Cell Carcinoma
1 0 1 0.20 0 0
CUI: C0349477
Disease: Transient neonatal hypothyroidism
Transient neonatal hypothyroidism
1 0 1 0.20 0 0
Hearing loss associated with syndrome
1 0 1 0.20 0 0
Osteoarthritis of glenohumeral joint
1 0 1 0.20 0 0
CUI: C0473577
Disease: Eccrine nevus
Eccrine nevus
1 0 1 0.20 0 0
Porokeratotic eccrine ostial and dermal duct nevus
1 2 1 0.20 2 0.17
CUI: C0473582
Disease: Hair follicle nevus
Hair follicle nevus
1 0 1 0.20 0 0
CUI: C0478084
Disease: Other congenital ichthyosis
Other congenital ichthyosis
1 0 1 0.20 0 0
Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp
1 0 1 0.20 0 0
CUI: C0553668
Disease: Labored breathing
Labored breathing
1 0 1 0.20 0 0
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss
13 0 3 0.20 0 0
CUI: C1266060
Disease: Syringofibroadenoma
Syringofibroadenoma
1 0 1 0.20 0 0
CUI: C1275100
Disease: Keratoderma with deafness
Keratoderma with deafness
1 0 1 0.20 0 0