Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Insulin-resistant diabetes mellitus at puberty
5 0 2 0.22 0 0
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity
5 0 2 0.22 0 0
CUI: C1856542
Disease: Prominent scalp veins
Prominent scalp veins
6 0 2 0.20 0 0
CUI: C3276815
Disease: Stiff skin
Stiff skin
6 0 2 0.20 0 0
CUI: C4020957
Disease: Abnormal trabecular bone morphology
Abnormal trabecular bone morphology
6 0 2 0.20 0 0
CUI: C3810018
Disease: Bilateral coxa valga
Bilateral coxa valga
7 0 2 0.18 0 0
CUI: C0000729
Disease: Abdominal Cramps
Abdominal Cramps
1 0 1 0.17 0 0
CUI: C0037188
Disease: Sinoatrial Block
Sinoatrial Block
1 0 1 0.17 0 0
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
1 0 1 0.17 0 0
CUI: C0796083
Disease: Najjar syndrome
Najjar syndrome
1 0 1 0.17 0 0
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
1 0 1 0.17 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor
1 0 1 0.17 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome
1 0 1 0.17 0 0
Fusion of the left and right thalami
1 0 1 0.17 0 0
CUI: C1835380
Disease: Labial pseudohypertrophy
Labial pseudohypertrophy
1 0 1 0.17 0 0
CUI: C1835389
Disease: Increased intramuscular fat
Increased intramuscular fat
1 0 1 0.17 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7
1 0 1 0.17 0 0
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
1 0 1 0.17 0 0
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins
8 3 2 0.17 1 0.33
X-linked Dyggve-Melchior-Clausen syndrome
1 0 1 0.17 0 0
CUI: C1846437
Disease: Deformed sella turcica
Deformed sella turcica
1 0 1 0.17 0 0
CUI: C1846446
Disease: Delayed femoral head ossification
Delayed femoral head ossification
1 0 1 0.17 0 0
Multicentric femoral head ossification
1 0 1 0.17 0 0
Anomalous branches of internal carotid artery
1 1 1 0.17 1 1.00
Multicentric ossification of proximal humeral epiphyses
1 0 1 0.17 0 0