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: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		17 0 4 0.15 0 0
CUI: C0038368
Disease: Stomatognathic Diseases
Stomatognathic Diseases 		2 0 2 0.14 0 0
CUI: C1855310
Disease: Megaepiphyseal dwarfism
Megaepiphyseal dwarfism 		2 0 2 0.14 0 0
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		2 0 2 0.14 0 0
CUI: C2750325
Disease: Oculootodental syndrome
Oculootodental syndrome 		2 0 2 0.14 0 0
CUI: C0521785
Disease: Hearing Loss, Unilateral
Hearing Loss, Unilateral 		3 0 2 0.13 0 0
CUI: C1848488
Disease: Pierre Robin syndrome with fetal chondrodysplasia
Pierre Robin syndrome with fetal chondrodysplasia 		3 0 2 0.13 0 0
CUI: C2673760
Disease: DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 		3 0 2 0.13 0 0
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia 		3 0 2 0.13 0 0
CUI: C0018775
Disease: Hearing Loss, Bilateral
Hearing Loss, Bilateral 		4 0 2 0.12 0 0
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		4 0 2 0.12 0 0
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		4 0 2 0.12 0 0
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		4 0 2 0.12 0 0
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		4 0 2 0.12 0 0
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		4 0 2 0.12 0 0
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		15 0 3 0.12 0 0
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger 		6 0 2 0.11 0 0
CUI: C1859111
Disease: Enlarged joints
Enlarged joints 		7 0 2 0.11 0 0
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		28 0 4 0.11 0 0
CUI: C4022756
Disease: Profound hearing impairment
Profound hearing impairment 		7 0 2 0.11 0 0
CUI: C1846434
Disease: Hypoplastic scapulae
Hypoplastic scapulae 		18 0 3 0.10 0 0
CUI: C0085700
Disease: Chondromalacia
Chondromalacia 		8 0 2 1.0E-01 0 0
CUI: C1835121
Disease: Premature osteoarthritis
Premature osteoarthritis 		8 0 2 1.0E-01 0 0
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		9 0 2 9.5E-02 0 0
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy 		9 0 2 9.5E-02 0 0