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: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate
55 3 43 0.39 2 0.25
Aplasia/Hypoplasia involving the skeletal musculature
19 0 17 0.17 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
176 23 36 0.15 1 3.4E-02
Atresia of the external auditory canal
44 0 18 0.15 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level
16 0 14 0.14 0 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
165 0 32 0.14 0 0
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum
84 0 22 0.14 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease
19 0 14 0.14 0 0
Abnormal lactate dehydrogenase activity
19 0 14 0.14 0 0
Walker-Warburg congenital muscular dystrophy
21 0 14 0.13 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia
21 0 14 0.13 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus
22 0 14 0.13 0 0
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
14 0 13 0.13 0 0
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
14 0 13 0.13 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies
15 0 13 0.13 0 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
191 0 32 0.12 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
23 0 13 0.12 0 0
CUI: C0026034
Disease: Microstomia
Microstomia
172 0 29 0.12 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
89 0 20 0.12 0 0
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia
34 0 14 0.12 0 0
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
137 0 25 0.12 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
152 0 25 0.11 0 0
Fukuyama Type Congenital Muscular Dystrophy
35 0 13 0.11 0 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome
137 0 23 0.11 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
148 0 24 0.11 0 0