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: C1863752
Disease: Enlarged Vestibular Aqueduct
Enlarged Vestibular Aqueduct 		4 0 2 0.40 0 0
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		5 0 2 0.33 0 0
CUI: C2748576
Disease: Renal sodium wasting
Renal sodium wasting 		1 0 1 0.33 0 0
CUI: C4021467
Disease: Contracture of the proximal interphalangeal joint of the 3rd finger
Contracture of the proximal interphalangeal joint of the 3rd finger 		1 1 1 0.33 1 1.00
CUI: C0265865
Disease: Mesocardia
Mesocardia 		2 1 1 0.25 1 1.00
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism 		7 0 2 0.25 0 0
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma 		2 0 1 0.25 0 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		7 0 2 0.25 0 0
CUI: C4021830
Disease: Bilateral camptodactyly
Bilateral camptodactyly 		2 1 1 0.25 1 1.00
CUI: C4024170
Disease: Localized hirsutism
Localized hirsutism 		2 2 1 0.25 1 0.50
CUI: C0240928
Disease: Salt craving
Salt craving 		3 0 1 0.20 0 0
CUI: C0270857
Disease: Epilepsy, Reflex
Epilepsy, Reflex 		3 0 1 0.20 0 0
CUI: C0334552
Disease: Malignant Giant Cell Tumor of Bone
Malignant Giant Cell Tumor of Bone 		3 0 1 0.20 0 0
CUI: C0334553
Disease: Giant Cell Tumor of Soft Tissue
Giant Cell Tumor of Soft Tissue 		3 0 1 0.20 0 0
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		10 0 2 0.18 0 0
CUI: C1266167
Disease: Chondrosarcoma, Clear Cell
Chondrosarcoma, Clear Cell 		4 0 1 0.17 0 0
CUI: C1849173
Disease: Periventricular gray matter heterotopia
Periventricular gray matter heterotopia 		4 3 1 0.17 1 0.33
CUI: C0029405
Disease: Osteitis Fibrosa Cystica
Osteitis Fibrosa Cystica 		5 0 1 0.14 0 0
CUI: C1853205
Disease: Glycosylphosphatidylinositol deficiency
Glycosylphosphatidylinositol deficiency 		5 0 1 0.14 0 0
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 		5 0 1 0.14 0 0
CUI: C1846348
Disease: Renal potassium wasting
Renal potassium wasting 		6 0 1 0.12 0 0
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		6 0 1 0.12 0 0
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		6 0 1 0.12 0 0
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		16 0 2 0.12 0 0
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		8 0 1 1.0E-01 0 0