Source: CLINVAR ×
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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 0 1 3.6E-02 0 0
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		5 0 1 3.1E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 1 2.5E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 0 1 3.3E-02 0 0
CUI: C0004096
Disease: Asthma
Asthma 		18 0 1 2.2E-02 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.6E-02 0 0
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		1 0 1 3.6E-02 0 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 3.6E-02 0 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		2 0 1 3.4E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.4E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 3.6E-02 0 0
CUI: C0009319
Disease: Colitis
Colitis 		4 6 1 3.2E-02 1 1.2E-03
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.5E-02 0 0
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma 		2 0 1 3.4E-02 0 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		7 0 1 2.9E-02 0 0
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		6 0 1 3.0E-02 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		9 0 1 2.8E-02 0 0
CUI: C0017097
Disease: Gardner Syndrome
Gardner Syndrome 		1 0 1 3.6E-02 0 0
CUI: C0018552
Disease: Hamartoma
Hamartoma 		4 0 1 3.2E-02 0 0
CUI: C0018681
Disease: Headache
Headache 		19 0 1 2.2E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		39 0 1 1.5E-02 0 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		37 0 1 1.6E-02 0 0
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		9 22 1 2.8E-02 1 1.2E-03
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 1 1.9E-02 1 1.2E-03
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		22 0 1 2.0E-02 0 0