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: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology
6 0 2 0.20 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia
1 0 1 0.17 0 0
Congenital stenosis of pulmonary valve
1 0 1 0.17 0 0
CUI: C0239894
Disease: HEART DISPLACEMENT
HEART DISPLACEMENT
1 0 1 0.17 0 0
Congenital insufficiency of pulmonary valve
1 0 1 0.17 0 0
CUI: C0268457
Disease: Aminoacidemia
Aminoacidemia
1 0 1 0.17 0 0
Perinatal jaundice due to inspissated bile syndrome
1 0 1 0.17 0 0
Multiple Lentigines/LEOPARD syndrome
1 0 1 0.17 0 0
INCREASED RESPONSIVENESS TO GROWTH HORMONE
1 0 1 0.17 0 0
LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN
1 0 1 0.17 0 0
LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN
1 0 1 0.17 0 0
CUI: C4025162
Disease: Multiple digital exostoses
Multiple digital exostoses
1 0 1 0.17 0 0
CUI: C4025818
Disease: Abnormality of skeletal maturation
Abnormality of skeletal maturation
1 0 1 0.17 0 0
Abnormality of the somatic nervous system
1 0 1 0.17 0 0
CUI: C4748158
Disease: SPINOCEREBELLAR ATAXIA 48
SPINOCEREBELLAR ATAXIA 48
1 0 1 0.17 0 0
CUI: C0002016
Disease: Aleutian Mink Disease
Aleutian Mink Disease
2 0 1 0.14 0 0
CUI: C0043019
Disease: Lateral Medullary Syndrome
Lateral Medullary Syndrome
2 0 1 0.14 0 0
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve
2 0 1 0.14 0 0
CUI: C0391922
Disease: Hemorrhagic enteritis
Hemorrhagic enteritis
2 0 1 0.14 0 0
CUI: C0541896
Disease: Spermatozoa abnormal
Spermatozoa abnormal
2 0 1 0.14 0 0
CUI: C0700199
Disease: Multiple nevi
Multiple nevi
2 0 1 0.14 0 0
CUI: C1848861
Disease: Hyperthreoninemia
Hyperthreoninemia
2 0 1 0.14 0 0
Cerebellar cognitive affective syndrome
2 0 1 0.14 0 0
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
2 0 1 0.14 0 0
B lymphoblastic leukemia lymphoma, no ICD-O subtype
2 0 1 0.14 0 0