Source: ALL
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: C3532947
Disease: Severe receptive language delay
Severe receptive language delay 		4 4 3 0.25 3 0.38
CUI: C4023249
Disease: Patent ductus arteriosus after birth at term
Patent ductus arteriosus after birth at term 		4 1 2 0.15 1 0.14
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 2 0.13 1 9.1E-02
CUI: C4024168
Disease: Thickened ears
Thickened ears 		7 0 2 0.12 0 0
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		8 6 2 0.12 2 0.18
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		9 7 2 0.11 1 7.7E-02
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		9 5 2 0.11 2 0.20
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		19 13 3 0.11 2 0.11
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 4 0.11 1 1.9E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		11 7 2 1.0E-01 2 0.17
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 9.1E-02 1 0.14
CUI: C1334963
Disease: Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma 		1 0 1 9.1E-02 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		1 0 1 9.1E-02 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		1 0 1 9.1E-02 0 0
CUI: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		1 0 1 9.1E-02 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 0 1 9.1E-02 0 0
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		13 0 2 9.1E-02 0 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 9.1E-02 1 0.14
CUI: C1851095
Disease: Lumbosacral hirsutism
Lumbosacral hirsutism 		1 0 1 9.1E-02 0 0
CUI: C1968942
Disease: Abnormal sacral segmentation
Abnormal sacral segmentation 		1 0 1 9.1E-02 0 0
CUI: C2678051
Disease: MENTAL RETARDATION, X-LINKED 94 (disorder)
MENTAL RETARDATION, X-LINKED 94 (disorder) 		1 0 1 9.1E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 9.1E-02 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		1 0 1 9.1E-02 0 0
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 9.1E-02 1 0.14
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		1 12 1 9.1E-02 1 5.6E-02