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: C2910100
Disease: Arnold-Chiari syndrome, type IV
Arnold-Chiari syndrome, type IV
1 0 1 9.1E-02 0 0
CUI: C2987398
Disease: Gastric Choriocarcinoma
Gastric Choriocarcinoma
1 0 1 9.1E-02 0 0
Malignant epithelial neoplasm of lung
1 0 1 9.1E-02 0 0
CUI: C3280479
Disease: PITT-HOPKINS-LIKE SYNDROME 2
PITT-HOPKINS-LIKE SYNDROME 2
1 0 1 9.1E-02 0 0
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4
1 0 1 9.1E-02 0 0
CUI: C3808494
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME
CHROMOSOME 2p16.3 DELETION SYNDROME
1 0 1 9.1E-02 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
1 0 1 9.1E-02 0 0
CUI: C4021532
Disease: Abnormality of the stapes
Abnormality of the stapes
1 0 1 9.1E-02 0 0
CUI: C4025189
Disease: Metopic suture patent to nasal root
Metopic suture patent to nasal root
1 0 1 9.1E-02 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
1 0 1 9.1E-02 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
1 0 1 9.1E-02 0 0
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME
1 0 1 9.1E-02 0 0
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
1 0 1 9.1E-02 0 0
CUI: C4531112
Disease: Penile freckling
Penile freckling
1 0 1 9.1E-02 0 0
Cortical dysplasia with focal epilepsy syndrome
1 0 1 9.1E-02 0 0
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome
1 0 1 9.1E-02 0 0
CUI: C4707866
Disease: Familial lambdoid synostosis
Familial lambdoid synostosis
1 0 1 9.1E-02 0 0
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
1 0 1 9.1E-02 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome
1 0 1 9.1E-02 0 0
CUI: C4751168
Disease: Pitt Hopkins-like syndrome
Pitt Hopkins-like syndrome
1 0 1 9.1E-02 0 0
CUI: C0027438
Disease: Nasopharyngeal Diseases
Nasopharyngeal Diseases
2 0 1 8.3E-02 0 0
Purine-Pyrimidine Metabolism, Inborn Errors
2 0 1 8.3E-02 0 0
CUI: C0039474
Disease: Temperament
Temperament
2 0 1 8.3E-02 0 0
CUI: C0234526
Disease: Ideational Apraxia
Ideational Apraxia
2 0 2 0.18 0 0
CUI: C0234527
Disease: Apraxia, Motor
Apraxia, Motor
2 0 2 0.18 0 0