Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Mental retardation Smith Fineman Myers type
1 0 1 1.00 0 0
Mental Retardation with Spastic Paraplegia
1 0 1 1.00 0 0
Triple gene defect alpha thalassemia
1 0 1 1.00 0 0
CUI: C3161173
Disease: Hemoglobin H Constant Spring
Hemoglobin H Constant Spring
1 0 1 1.00 0 0
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
1 0 1 1.00 0 0
CUI: C4021070
Disease: Absent mastoid
Absent mastoid
1 0 1 1.00 0 0
CUI: C4021166
Disease: Bridged palmar crease
Bridged palmar crease
1 0 1 1.00 0 0
CUI: C4022543
Disease: Accessory scrotum
Accessory scrotum
1 0 1 1.00 0 0
Enlarged epiphyses of the distal phalanges of the hand
1 0 1 1.00 0 0
CUI: C1839765
Disease: Triangular nasal tip
Triangular nasal tip
2 0 1 0.50 0 0
CUI: C1856886
Disease: Hypoplastic philtrum
Hypoplastic philtrum
2 0 1 0.50 0 0
CUI: C3640999
Disease: High Grade Astrocytic Tumor
High Grade Astrocytic Tumor
2 0 1 0.50 0 0
CUI: C4022909
Disease: Excessive femoral anteversion
Excessive femoral anteversion
2 0 1 0.50 0 0
Abnormal pulmonary valve cusp morphology
2 0 1 0.50 0 0
CUI: C0272005
Disease: Hemoglobin Bart's hydrops syndrome
Hemoglobin Bart's hydrops syndrome
3 0 1 0.33 0 0
CUI: C0426636
Disease: Urgent desire for stool
Urgent desire for stool
3 0 1 0.33 0 0
CUI: C2873754
Disease: Severe alpha thalassemia
Severe alpha thalassemia
3 0 1 0.33 0 0
CUI: C4020755
Disease: Abnormality of fontanelles
Abnormality of fontanelles
3 0 1 0.33 0 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds
3 0 1 0.33 0 0
Dermatological manifestations of systemic disorders
3 0 1 0.33 0 0
CUI: C4072942
Disease: Atypical pulmonary carcinoid tumor
Atypical pulmonary carcinoid tumor
3 0 1 0.33 0 0
Impairment of activities of daily living
3 0 1 0.33 0 0
CUI: C0030846
Disease: Penile Diseases
Penile Diseases
4 0 1 0.25 0 0
Alpha-Thalassemia Myelodysplasia Syndrome
4 0 1 0.25 0 0
CUI: C0596028
Disease: Overjet, Dental
Overjet, Dental
4 0 1 0.25 0 0