Source: CURATED ×
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: C0003467
Disease: Anxiety
Anxiety 		0 169 0 0 1 5.7E-03
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0 5 0 0 1 1.0E-01
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0 579 0 0 1 1.7E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0 6385 0 0 4 6.3E-04
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		0 6 0 0 1 9.1E-02
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0 21 0 0 1 3.8E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0 31 0 0 2 5.7E-02
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		0 9 0 0 1 7.1E-02
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0 208 0 0 1 4.7E-03
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor 		0 1 0 0 1 0.17
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0 75 0 0 1 1.3E-02
CUI: C1834711
Disease: CEREBELLOPARENCHYMAL DISORDER VI
CEREBELLOPARENCHYMAL DISORDER VI 		0 56 0 0 5 8.8E-02
CUI: C1834712
Disease: Cerebellar Granule Cell Hypertrophy and Megalencephaly
Cerebellar Granule Cell Hypertrophy and Megalencephaly 		0 56 0 0 5 8.8E-02
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0 411 0 0 2 4.8E-03
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0 93 0 0 1 1.0E-02
CUI: C1866376
Disease: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 		0 56 0 0 5 8.8E-02
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0 116 0 0 2 1.7E-02
CUI: C0003081
Disease: Anisometropia
Anisometropia 		1 0 1 1.00 0 0
CUI: C0023801
Disease: Lipomatosis
Lipomatosis 		1 0 1 1.00 0 0
CUI: C1266181
Disease: Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos)
Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) 		1 0 1 1.00 0 0
CUI: C1835047
Disease: MELANOMA, CUTANEOUS MALIGNANT, 1
MELANOMA, CUTANEOUS MALIGNANT, 1 		1 0 1 1.00 0 0
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		2 0 1 0.50 0 0
CUI: C0205822
Disease: Hibernoma
Hibernoma 		2 0 1 0.50 0 0
CUI: C0205823
Disease: Pleomorphic Lipoma
Pleomorphic Lipoma 		2 0 1 0.50 0 0
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		2 1 1 0.50 1 0.17