Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
2 0 2 0.20 0 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base
2 0 2 0.20 0 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure
2 0 2 0.20 0 0
Aplasia of the distal phalanx of the hallux
2 0 2 0.20 0 0
Aplasia/hypoplasia of the 1st metatarsal
2 0 2 0.20 0 0
Aplasia of the distal phalanges of the hand
2 0 2 0.20 0 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae
2 0 2 0.20 0 0
Heterotopia, Periventricular, Autosomal Recessive
3 0 2 0.18 0 0
CUI: C1857663
Disease: Yunis Varon syndrome
Yunis Varon syndrome
3 0 2 0.18 0 0
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux
3 0 2 0.18 0 0
CUI: C1866700
Disease: Irregular, rachitic-like metaphyses
Irregular, rachitic-like metaphyses
3 0 2 0.18 0 0
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J
3 0 2 0.18 0 0
Slender long bones with narrow diaphyses
3 0 2 0.18 0 0
CUI: C4021884
Disease: Bilateral choanal atresia/stenosis
Bilateral choanal atresia/stenosis
3 0 2 0.18 0 0
CUI: C4022432
Disease: Bilateral external ear deformity
Bilateral external ear deformity
3 0 2 0.18 0 0
Shortening of all distal phalanges of the toes
3 0 2 0.18 0 0
CUI: C4476534
Disease: Subperiosteal bone resorption
Subperiosteal bone resorption
3 0 2 0.18 0 0
Van Maldergem Wetzburger Verloes syndrome
4 0 2 0.17 0 0
CUI: C1838659
Disease: Deformed rib cage
Deformed rib cage
4 0 2 0.17 0 0
CUI: C1839276
Disease: Broad secondary alveolar ridge
Broad secondary alveolar ridge
4 0 2 0.17 0 0
Bulging of the costochondral junction
4 0 2 0.17 0 0
Periventricular gray matter heterotopia
4 0 2 0.17 0 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone
4 0 2 0.17 0 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology
4 0 2 0.17 0 0
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae
5 0 2 0.15 0 0