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: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
3 0 2 0.50 0 0
CUI: C1836737
Disease: White eyebrow
White eyebrow
7 0 3 0.43 0 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA
7 0 3 0.43 0 0
CUI: C1836736
Disease: White eyelashes
White eyelashes
8 0 3 0.38 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: C1852510
Disease: Craniofacial deafness hand syndrome
Craniofacial deafness hand syndrome
1 0 1 0.33 0 0
CUI: C1861799
Disease: Catatrichy
Catatrichy
1 0 1 0.33 0 0
Yemenite deaf-blind hypopigmentation syndrome
1 0 1 0.33 0 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2
9 0 3 0.33 0 0
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
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
1 0 1 0.33 0 0
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: C0265681
Disease: Supernumerary vertebra
Supernumerary vertebra
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: C0344312
Disease: White forelock
White forelock
12 0 3 0.25 0 0
CUI: C1332614
Disease: Angiosarcoma of the breast
Angiosarcoma of the breast
2 0 1 0.25 0 0
CUI: C1841990
Disease: Aplasia of the vagina
Aplasia of the vagina
2 0 1 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