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: C0024622
Disease: Malignant neoplasm of retina
Malignant neoplasm of retina
1 0 1 0.50 0 0
CUI: C1865639
Disease: Gracile bone dysplasia
Gracile bone dysplasia
1 0 1 0.50 0 0
CUI: C3151302
Disease: Chromosome 13q14 deletion syndrome
Chromosome 13q14 deletion syndrome
1 0 1 0.50 0 0
Abnormality of the medullary cavity of the long bones
1 0 1 0.50 0 0
Abnormal circulating follicle-stimulating hormone level
1 0 1 0.50 0 0
CUI: C1704237
Disease: Trichodiscoma
Trichodiscoma
2 0 1 0.33 0 0
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
2 0 1 0.33 0 0
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
2 0 1 0.33 0 0
CUI: C1855648
Disease: KENNY-CAFFEY SYNDROME, TYPE 1
KENNY-CAFFEY SYNDROME, TYPE 1
2 0 1 0.33 0 0
CUI: C1970617
Disease: Hypoplastic spleen
Hypoplastic spleen
2 0 1 0.33 0 0
Vulvar Adenocarcinoma of Mammary Gland Type
2 0 1 0.33 0 0
CUI: C4316787
Disease: Kenny-Caffey syndrome, type 2
Kenny-Caffey syndrome, type 2
2 0 1 0.33 0 0
CUI: C0854915
Disease: Retinoblastoma unilateral
Retinoblastoma unilateral
3 0 1 0.25 0 0
CUI: C1334266
Disease: Intraurothelial Neoplasia
Intraurothelial Neoplasia
3 0 1 0.25 0 0
CUI: C1855657
Disease: Calvarial osteosclerosis
Calvarial osteosclerosis
3 0 1 0.25 0 0
CUI: C1859449
Disease: Thin long bone diaphyses
Thin long bone diaphyses
3 0 1 0.25 0 0
CUI: C2608045
Disease: Trilateral Retinoblastoma
Trilateral Retinoblastoma
3 0 1 0.25 0 0
Stenosis of the medullary cavity of the long bones
3 0 1 0.25 0 0
Abnormality of the tibial metaphysis
3 0 1 0.25 0 0
CUI: C0151940
Disease: Hypocalcemic tetany
Hypocalcemic tetany
4 0 1 0.20 0 0
CUI: C0152458
Disease: Leukocoria
Leukocoria
4 0 1 0.20 0 0
CUI: C1854417
Disease: Postnatal macrocephaly
Postnatal macrocephaly
4 0 1 0.20 0 0
CUI: C4024709
Disease: Transient hypophosphatemia
Transient hypophosphatemia
4 0 1 0.20 0 0
Abnormality of the femoral metaphysis
4 0 1 0.20 0 0
Cortical thickening of long bone diaphyses
4 0 1 0.20 0 0