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: C2363902
Disease: Glioneuronal tumor
Glioneuronal tumor
4 0 1 0.25 0 0
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
4 0 1 0.25 0 0
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation
4 0 1 0.25 0 0
CUI: C4021723
Disease: Short middle phalanx of toe
Short middle phalanx of toe
4 0 1 0.25 0 0
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis
5 0 1 0.20 0 0
CUI: C0038041
Disease: Spotted Fever Group Rickettsiosis
Spotted Fever Group Rickettsiosis
5 0 1 0.20 0 0
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth
5 0 1 0.20 0 0
Encephalocraniocutaneous lipomatosis
5 6 1 0.20 1 4.5E-02
Gonadotropin releasing factor deficiency
5 0 1 0.20 0 0
Adenoid cystic carcinoma of lacrimal gland
6 0 1 0.17 0 0
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot
6 0 1 0.17 0 0
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma
6 0 1 0.17 0 0
CUI: C1831619
Disease: Phosphaturic Mesenchymal Tumor
Phosphaturic Mesenchymal Tumor
6 0 1 0.17 0 0
CUI: C1855185
Disease: Broad phalanx
Broad phalanx
6 0 1 0.17 0 0
Peroxisome Biogenesis Disorder, Complementation Group H
6 0 1 0.17 0 0
Kallmann syndrome, type 3, recessive
6 0 1 0.17 0 0
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis
6 0 1 0.17 0 0
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding
7 0 1 0.14 0 0
CUI: C0409477
Disease: Ankylosis of the elbow joint
Ankylosis of the elbow joint
7 0 1 0.14 0 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis
7 2 1 0.14 1 5.6E-02
CUI: C1842231
Disease: Broad metatarsal
Broad metatarsal
7 0 1 0.14 0 0
Acute lymphoblastic leukemia with lymphomatous features
7 0 1 0.14 0 0
Shortening of all middle phalanges of the fingers
7 0 1 0.14 0 0
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
8 36 1 0.12 1 1.9E-02
CUI: C1563720
Disease: Kallmann Syndrome 2 (disorder)
Kallmann Syndrome 2 (disorder)
8 45 1 0.12 1 1.6E-02