Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES
2 0 2 0.50 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base
2 0 2 0.50 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure
2 0 2 0.50 0 0
Aplasia of the distal phalanx of the hallux
2 0 2 0.50 0 0
Aplasia/hypoplasia of the 1st metatarsal
2 0 2 0.50 0 0
Aplasia of the distal phalanges of the hand
2 0 2 0.50 0 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae
2 0 2 0.50 0 0
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
3 0 2 0.40 0 0
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux
3 0 2 0.40 0 0
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
3 0 2 0.40 0 0
Slender long bones with narrow diaphyses
3 0 2 0.40 0 0
CUI: C4022432
Disease: Bilateral external ear deformity
Bilateral external ear deformity
3 0 2 0.40 0 0
Shortening of all distal phalanges of the toes
3 0 2 0.40 0 0
CUI: C1839276
Disease: Broad secondary alveolar ridge
Broad secondary alveolar ridge
4 0 2 0.33 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology
4 0 2 0.33 0 0
CUI: C1838610
Disease: Aplasia of the 1st metacarpal
Aplasia of the 1st metacarpal
5 0 2 0.29 0 0
CUI: C1857074
Disease: Absent sternal ossification
Absent sternal ossification
5 0 2 0.29 0 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles
5 0 2 0.29 0 0
CUI: C1844810
Disease: Thick nasal septum
Thick nasal septum
1 0 1 0.25 0 0
CUI: C1844818
Disease: Lumbar kyphosis
Lumbar kyphosis
1 0 1 0.25 0 0
CUI: C1844822
Disease: Drumstick terminal phalanges
Drumstick terminal phalanges
1 0 1 0.25 0 0
CUI: C2675191
Disease: Polymicrogyria, Bilateral Occipital
Polymicrogyria, Bilateral Occipital
1 0 1 0.25 0 0
CUI: C2675491
Disease: AMYOTROPHIC LATERAL SCLEROSIS 11
AMYOTROPHIC LATERAL SCLEROSIS 11
1 0 1 0.25 0 0
POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL
1 0 1 0.25 0 0
CUI: C4021804
Disease: Abnormality of the nasal alae
Abnormality of the nasal alae
1 0 1 0.25 0 0