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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		1 1 1 0.50 1 0.14
CUI: C0024221
Disease: Lymphangioma
Lymphangioma 		1 0 1 0.50 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion 		1 0 1 0.50 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		1 0 1 0.50 0 0
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule 		1 5 1 0.50 1 9.1E-02
CUI: C0041657
Disease: Unconscious State
Unconscious State 		1 0 1 0.50 0 0
CUI: C0221273
Disease: Juvenile polyp
Juvenile polyp 		1 0 1 0.50 0 0
CUI: C0265326
Disease: Bannayan-Riley-Ruvalcaba Syndrome
Bannayan-Riley-Ruvalcaba Syndrome 		1 1 1 0.50 1 0.14
CUI: C0343082
Disease: Senile angioma
Senile angioma 		1 0 1 0.50 0 0
CUI: C0457193
Disease: Soft tissue mass
Soft tissue mass 		1 0 1 0.50 0 0
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		1 0 1 0.50 0 0
CUI: C1262299
Disease: Oral wart
Oral wart 		1 0 1 0.50 0 0
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm 		1 0 1 0.50 0 0
CUI: C1335168
Disease: Ovarian mucinous tumor
Ovarian mucinous tumor 		1 1 1 0.50 1 0.14
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		1 0 1 0.50 0 0
CUI: C1854416
Disease: MACROCEPHALY/AUTISM SYNDROME
MACROCEPHALY/AUTISM SYNDROME 		1 21 1 0.50 5 0.22
CUI: C2751642
Disease: GLIOMA SUSCEPTIBILITY 2
GLIOMA SUSCEPTIBILITY 2 		1 5 1 0.50 5 0.71
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		1 0 1 0.50 0 0
CUI: C4531112
Disease: Penile freckling
Penile freckling 		1 0 1 0.50 0 0
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		2 0 1 0.33 0 0
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		2 0 1 0.33 0 0
CUI: C0018932
Disease: Hematochezia
Hematochezia 		2 0 1 0.33 0 0
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		2 0 1 0.33 0 0
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		2 2 1 0.33 1 0.12
CUI: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		2 0 1 0.33 0 0