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: C0001193
Disease: Apert syndrome
Apert syndrome 		1 0 1 2.9E-02 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		1 1 1 2.9E-02 1 3.2E-03
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia 		1 0 1 2.9E-02 0 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		17 0 1 2.0E-02 0 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 0 1 2.4E-02 0 0
CUI: C0003467
Disease: Anxiety
Anxiety 		13 0 1 2.2E-02 0 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		3 0 1 2.8E-02 0 0
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		4 0 1 2.7E-02 0 0
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		5 11 1 2.6E-02 2 6.2E-03
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 0 1 1.4E-02 0 0
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		3 0 1 2.8E-02 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		10 0 1 2.3E-02 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 2.9E-02 0 0
CUI: C0007095
Disease: Carcinoid Tumor
Carcinoid Tumor 		1 0 1 2.9E-02 0 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		2 0 1 2.9E-02 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		44 0 1 1.3E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 2.9E-02 0 0
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		3 0 1 2.8E-02 0 0
CUI: C0009319
Disease: Colitis
Colitis 		4 6 1 2.7E-02 1 3.1E-03
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		2 0 1 2.9E-02 0 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 0 1 2.9E-02 0 0
CUI: C0009806
Disease: Constipation
Constipation 		40 0 1 1.4E-02 0 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		13 0 1 2.2E-02 0 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		7 0 1 2.5E-02 0 0
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		6 0 1 2.6E-02 0 0