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 2.6E-02 0 0
CUI: C0006664
Disease: Calcinosis cutis
Calcinosis cutis 		1 0 1 2.6E-02 0 0
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 0 1 2.6E-02 0 0
CUI: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 0 1 2.6E-02 0 0
CUI: C0020502
Disease: Hyperparathyroidism
Hyperparathyroidism 		1 0 1 2.6E-02 0 0
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 2.6E-02 0 0
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms 		1 2 1 2.6E-02 1 6.5E-03
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		1 1 1 2.6E-02 1 6.5E-03
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		1 0 1 2.6E-02 0 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		1 86 1 2.6E-02 1 4.2E-03
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 2.6E-02 0 0
CUI: C0039621
Disease: Tetany
Tetany 		1 0 1 2.6E-02 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		1 0 1 2.6E-02 0 0
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		1 5 1 2.6E-02 1 6.4E-03
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 2.6E-02 0 0
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1 0 1 2.6E-02 0 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		1 0 1 2.6E-02 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 0 1 2.6E-02 0 0
CUI: C0154828
Disease: Traction detachment of retina
Traction detachment of retina 		1 0 1 2.6E-02 0 0
CUI: C0158763
Disease: Macrodactylia of fingers
Macrodactylia of fingers 		1 0 1 2.6E-02 0 0
CUI: C0158768
Disease: Macrodactyly of toe
Macrodactyly of toe 		1 1 1 2.6E-02 1 6.5E-03
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma 		1 7 1 2.6E-02 2 1.3E-02
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		1 2 1 2.6E-02 2 1.3E-02
CUI: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic 		1 0 1 2.6E-02 0 0
CUI: C0221273
Disease: Juvenile polyp
Juvenile polyp 		1 0 1 2.6E-02 0 0