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: C1384666
Disease: hearing impairment
hearing impairment 		740 337 270 0.22 21 4.9E-02
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		4 98 3 3.8E-03 13 6.6E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 305 0.13 10 1.5E-02
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 351 0.14 8 1.2E-02
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		3 27 3 3.8E-03 7 5.3E-02
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		1 49 1 1.3E-03 7 4.6E-02
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		4 30 2 2.5E-03 6 4.4E-02
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		12 19 3 3.8E-03 6 4.8E-02
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME 		42 13 7 8.6E-03 6 5.1E-02
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		9 24 2 2.5E-03 5 3.8E-02
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 258 0.16 5 1.3E-02
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		163 66 102 0.12 5 2.9E-02
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		18 61 11 1.4E-02 5 3.0E-02
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		505 98 90 7.5E-02 4 2.0E-02
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		568 51 245 0.22 4 2.5E-02
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		1 21 1 1.3E-03 4 3.1E-02
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		4 35 4 5.1E-03 4 2.8E-02
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		1 20 1 1.3E-03 4 3.1E-02
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		165 19 67 7.6E-02 4 3.2E-02
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		209 21 82 9.0E-02 3 2.3E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		613 283 113 8.8E-02 3 7.7E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 579 270 0.18 3 4.4E-03
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		351 81 59 5.5E-02 3 1.6E-02
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		617 21 60 4.5E-02 3 2.3E-02
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia 		83 21 16 1.9E-02 3 2.3E-02