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: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		2 0 2 0.67 0 0
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy 		2 0 2 0.67 0 0
CUI: C4023381
Disease: Morphological abnormality of the inner ear
Morphological abnormality of the inner ear 		2 0 2 0.67 0 0
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 0.50 0 0
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum 		3 0 2 0.50 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		7 0 3 0.43 0 0
CUI: C0391816
Disease: Tietz syndrome
Tietz syndrome 		1 0 1 0.33 0 0
CUI: C1335911
Disease: Salivary Gland Sialoblastoma
Salivary Gland Sialoblastoma 		1 0 1 0.33 0 0
CUI: C1861799
Disease: Catatrichy
Catatrichy 		1 0 1 0.33 0 0
CUI: C1866425
Disease: Yemenite deaf-blind hypopigmentation syndrome
Yemenite deaf-blind hypopigmentation syndrome 		1 3 1 0.33 1 0.14
CUI: C3266028
Disease: Pigmented actinic keratosis
Pigmented actinic keratosis 		1 0 1 0.33 0 0
CUI: C4022600
Disease: Peripheral amyelination
Peripheral amyelination 		1 0 1 0.33 0 0
CUI: C4023430
Disease: Long-segment aganglionic megacolon
Long-segment aganglionic megacolon 		1 0 1 0.33 0 0
CUI: C4310625
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 		1 0 1 0.33 0 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		5 0 2 0.33 0 0
CUI: C4750999
Disease: Ocular albinism with congenital sensorineural deafness
Ocular albinism with congenital sensorineural deafness 		1 0 1 0.33 0 0
CUI: C0078921
Disease: Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Negative 		2 0 1 0.25 0 0
CUI: C0078922
Disease: Albinism, Tyrosinase-Positive
Albinism, Tyrosinase-Positive 		2 0 1 0.25 0 0
CUI: C0078923
Disease: Albinism, Yellow-Mutant
Albinism, Yellow-Mutant 		2 0 1 0.25 0 0
CUI: C0334266
Disease: Transitional cell papilloma, benign
Transitional cell papilloma, benign 		2 0 1 0.25 0 0
CUI: C1332614
Disease: Angiosarcoma of the breast
Angiosarcoma of the breast 		2 0 1 0.25 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow 		7 0 2 0.25 0 0
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		12 0 3 0.25 0 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		7 0 2 0.25 0 0
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		2 0 1 0.25 0 0