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: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		2 1 2 1.00 1 4.5E-02
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		2 1 2 1.00 1 4.5E-02
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		3 0 2 0.67 0 0
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		3 0 2 0.67 0 0
CUI: C1335911
Disease: Salivary Gland Sialoblastoma
Salivary Gland Sialoblastoma 		1 0 1 0.50 0 0
CUI: C1861799
Disease: Catatrichy
Catatrichy 		1 0 1 0.50 0 0
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		1 3 1 0.50 2 8.7E-02
CUI: C3266028
Disease: Pigmented actinic keratosis
Pigmented actinic keratosis 		1 0 1 0.50 0 0
CUI: C4022600
Disease: Peripheral amyelination
Peripheral amyelination 		1 0 1 0.50 0 0
CUI: C4023430
Disease: Long-segment aganglionic megacolon
Long-segment aganglionic megacolon 		1 0 1 0.50 0 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		5 1 2 0.40 1 4.5E-02
CUI: C0334266
Disease: Transitional cell papilloma, benign
Transitional cell papilloma, benign 		2 0 1 0.33 0 0
CUI: C4023387
Disease: Dilated vestibule of the inner ear
Dilated vestibule of the inner ear 		2 0 1 0.33 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		7 0 2 0.29 0 0
CUI: C0206673
Disease: Syringoma
Syringoma 		3 0 1 0.25 0 0
CUI: C3552156
Disease: Hypoplasia of the semicircular canal
Hypoplasia of the semicircular canal 		3 0 1 0.25 0 0
CUI: C4289688
Disease: Diffuse midline glioma, point mutation K27M in histone H3
Diffuse midline glioma, point mutation K27M in histone H3 		3 0 1 0.25 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		3 0 1 0.25 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 0.25 0 0
CUI: C0025160
Disease: Megacolon
Megacolon 		9 9 2 0.22 1 3.3E-02
CUI: C0334444
Disease: Spindle Cell Melanoma
Spindle Cell Melanoma 		4 0 1 0.20 0 0
CUI: C1304300
Disease: Skin Nodular Basal Cell Carcinoma
Skin Nodular Basal Cell Carcinoma 		4 0 1 0.20 0 0
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses 		4 0 1 0.20 0 0
CUI: C1843168
Disease: Myelin outfoldings
Myelin outfoldings 		4 0 1 0.20 0 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy 		4 0 1 0.20 0 0