Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Tapering pointed ends of distal finger phalanges
4 0 2 0.20 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype
4 0 2 0.20 0 0
CUI: C0426811
Disease: Pseudoarthrosis of clavicle
Pseudoarthrosis of clavicle
5 0 2 0.18 0 0
CUI: C0566694
Disease: Small placenta
Small placenta
5 0 2 0.18 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw
5 0 2 0.18 0 0
CUI: C0860439
Disease: Mottled pigmentation
Mottled pigmentation
5 0 2 0.18 0 0
Insulin-resistant diabetes mellitus at puberty
5 0 2 0.18 0 0
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity
5 0 2 0.18 0 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles
5 0 2 0.18 0 0
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones
6 0 2 0.17 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins
6 0 2 0.17 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin
6 0 2 0.17 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology
6 0 2 0.17 0 0
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga
7 0 2 0.15 0 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation
8 0 2 0.14 0 0
CUI: C4020966
Disease: Abnormally ossified vertebrae
Abnormally ossified vertebrae
8 0 2 0.14 0 0
Aplasia/Hypoplasia involving the pelvis
8 0 2 0.14 0 0
Familial Partial Lipodystrophy, Type 1
9 0 2 0.13 0 0
CUI: C1867114
Disease: Craniofacial disproportion
Craniofacial disproportion
9 0 2 0.13 0 0
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block
1 0 1 0.12 0 0
CUI: C0276161
Disease: Subacute adenoviral encephalitis
Subacute adenoviral encephalitis
1 0 1 0.12 0 0
CUI: C0423823
Disease: Thin nails
Thin nails
10 0 2 0.12 0 0
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
1 0 1 0.12 0 0
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome
1 0 1 0.12 0 0
CUI: C0854486
Disease: Secretory adenoma of pituitary
Secretory adenoma of pituitary
1 0 1 0.12 0 0