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: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
16 0 16 1.00 0 0
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME
16 0 16 1.00 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome
10 0 10 0.62 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome
9 0 9 0.56 0 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
10 0 9 0.53 0 0
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
6 0 2 1.0E-01 0 0
CUI: C0004930
Disease: Behavior Disorders
Behavior Disorders
12 0 2 7.7E-02 0 0
CUI: C0004936
Disease: Mental disorders
Mental disorders
12 0 2 7.7E-02 0 0
CUI: C0376338
Disease: Diagnosis, Psychiatric
Diagnosis, Psychiatric
12 0 2 7.7E-02 0 0
CUI: C4046029
Disease: Mental Disorders, Severe
Mental Disorders, Severe
12 0 2 7.7E-02 0 0
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders
1 0 1 6.2E-02 0 0
Schizophrenia Spectrum and Other Psychotic Disorders
1 0 1 6.2E-02 0 0
CUI: C1333813
Disease: Central Nervous System Germinoma
Central Nervous System Germinoma
1 0 1 6.2E-02 0 0
Chromosome 22q11.2 Microduplication Syndrome
1 0 1 6.2E-02 0 0
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA
1 0 1 6.2E-02 0 0
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
3 0 1 5.6E-02 0 0
CUI: C0026858
Disease: Musculoskeletal Pain
Musculoskeletal Pain
3 0 1 5.6E-02 0 0
CUI: C1306067
Disease: Drug-induced paranoid state
Drug-induced paranoid state
3 0 1 5.6E-02 0 0
Chromosome 22q11.2 Deletion Syndrome, Distal
3 0 1 5.6E-02 0 0
Deficiency of Platelet Glycoprotein 1b
3 0 1 5.6E-02 0 0
HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO
3 0 1 5.6E-02 0 0
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
44 0 3 5.3E-02 0 0
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome
4 0 1 5.3E-02 0 0
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome
4 0 1 5.3E-02 0 0
CUI: C0001723
Disease: Affective Disorders, Psychotic
Affective Disorders, Psychotic
5 0 1 5.0E-02 0 0