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: C0232466
Disease: Feeding difficulties
Feeding difficulties
18 0 4 0.20 0 0
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
1 0 1 0.17 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
1 0 1 0.17 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
15 164 3 0.17 1 5.8E-03
CUI: C4025845
Disease: Abnormality iris morphology
Abnormality iris morphology
1 0 1 0.17 0 0
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
2 0 1 0.14 0 0
CUI: C4021812
Disease: Abnormality of the head
Abnormality of the head
2 0 1 0.14 0 0
Abnormality of cardiovascular system morphology
2 0 1 0.14 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities
3 0 1 0.12 0 0
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality
4 0 1 0.11 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
16 0 2 1.0E-01 0 0
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15
8 0 1 7.7E-02 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face
9 0 1 7.1E-02 0 0
Congenital Disorders of Glycosylation
10 0 1 6.7E-02 0 0
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
16 0 1 4.8E-02 0 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
133 505 6 4.5E-02 2 3.9E-03
Hypertrophic obstructive cardiomyopathy
25 0 1 3.3E-02 0 0
CUI: C0036572
Disease: Seizures
Seizures
218 417 5 2.3E-02 2 4.7E-03
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations
41 0 1 2.2E-02 0 0
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
57 0 1 1.6E-02 0 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
447 0 6 1.3E-02 0 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
96 0 1 9.9E-03 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
98 261 1 9.7E-03 1 3.7E-03
CUI: C0018801
Disease: Heart failure
Heart failure
110 0 1 8.7E-03 0 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
110 0 1 8.7E-03 0 0