Source: ALL
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: C0426816
Disease: Absence of rib
Absence of rib 		18 0 2 8.3E-02 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 1 8.3E-02 0 0
CUI: C0085138
Disease: Choroid Plexus Neoplasms
Choroid Plexus Neoplasms 		19 0 2 8.0E-02 0 0
CUI: C1861689
Disease: KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 		6 0 1 7.7E-02 0 0
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		6 0 1 7.7E-02 0 0
CUI: C1866174
Disease: Phosphoglycerate Dehydrogenase Deficiency
Phosphoglycerate Dehydrogenase Deficiency 		7 0 1 7.1E-02 0 0
CUI: C4021985
Disease: Germ cell neoplasia
Germ cell neoplasia 		22 0 2 7.1E-02 0 0
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		7 0 1 7.1E-02 0 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		7 0 1 7.1E-02 0 0
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		7 0 1 7.1E-02 0 0
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		24 0 2 6.7E-02 0 0
CUI: C1112356
Disease: Bronchial dysplasia
Bronchial dysplasia 		8 0 1 6.7E-02 0 0
CUI: C1112474
Disease: Small cell carcinoma of esophagus
Small cell carcinoma of esophagus 		8 0 1 6.7E-02 0 0
CUI: C1336084
Disease: Squamous Lung Dysplasia
Squamous Lung Dysplasia 		8 0 1 6.7E-02 0 0
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		8 0 1 6.7E-02 0 0
CUI: C3826462
Disease: Depression in children
Depression in children 		8 0 1 6.7E-02 0 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		8 0 1 6.7E-02 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 1 6.7E-02 0 0
CUI: C4025659
Disease: Abnormality of the shoulder
Abnormality of the shoulder 		8 0 1 6.7E-02 0 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		89 0 6 6.6E-02 0 0
CUI: C0334520
Disease: Teratoma, Malignant
Teratoma, Malignant 		25 0 2 6.5E-02 0 0
CUI: C1853235
Disease: Sclerocornea
Sclerocornea 		42 0 3 6.4E-02 0 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		59 0 4 6.3E-02 0 0
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		9 0 1 6.2E-02 0 0
CUI: C0023316
Disease: Lens Subluxation
Lens Subluxation 		9 0 1 6.2E-02 0 0