Source: ALL
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: C0399367
Disease: Amelogenesis imperfecta local hypoplastic form
Amelogenesis imperfecta local hypoplastic form 		9 0 4 0.33 0 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite 		13 0 3 0.18 0 0
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		7 5 2 0.17 2 0.40
CUI: C0406740
Disease: Kohlschutter Tonz syndrome
Kohlschutter Tonz syndrome 		8 0 2 0.15 0 0
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		1 0 1 0.14 0 0
CUI: C0743924
Disease: Short fetal femur length
Short fetal femur length 		1 2 1 0.14 2 1.00
CUI: C1856932
Disease: Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 		1 0 1 0.14 0 0
CUI: C2673654
Disease: Rhizo-meso-acromelic limb shortening
Rhizo-meso-acromelic limb shortening 		1 2 1 0.14 2 1.00
CUI: C2673923
Disease: Amelogenesis Imperfecta, Type Ic
Amelogenesis Imperfecta, Type Ic 		1 0 1 0.14 0 0
CUI: C3873241
Disease: Amelogenesis imperfecta and gingival hyperplasia syndrome
Amelogenesis imperfecta and gingival hyperplasia syndrome 		1 0 1 0.14 0 0
CUI: C4015557
Disease: AMELOGENESIS IMPERFECTA, TYPE IH
AMELOGENESIS IMPERFECTA, TYPE IH 		1 0 1 0.14 0 0
CUI: C4023675
Disease: Acromelia
Acromelia 		1 2 1 0.14 2 1.00
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		1 0 1 0.14 0 0
CUI: C4025067
Disease: Dagger-shaped pulp calcifications
Dagger-shaped pulp calcifications 		1 0 1 0.14 0 0
CUI: C4025165
Disease: Cutaneous syndactyly between fingers 2 and 5
Cutaneous syndactyly between fingers 2 and 5 		1 0 1 0.14 0 0
CUI: C4531126
Disease: Increased circulating osteocalcin level
Increased circulating osteocalcin level 		1 0 1 0.14 0 0
CUI: C0268077
Disease: Hypophosphaturia
Hypophosphaturia 		2 0 1 0.12 0 0
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		2 0 1 0.12 0 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature 		2 0 1 0.12 0 0
CUI: C1859819
Disease: Impaired renal concentrating ability
Impaired renal concentrating ability 		2 0 1 0.12 0 0
CUI: C1860202
Disease: Unossified vertebral bodies
Unossified vertebral bodies 		2 0 1 0.12 0 0
CUI: C2931280
Disease: Perniola Krajewska Carnevale syndrome
Perniola Krajewska Carnevale syndrome 		2 0 1 0.12 0 0
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		2 0 1 0.12 0 0
CUI: C4021244
Disease: Abnormal hand bone ossification
Abnormal hand bone ossification 		2 0 1 0.12 0 0
CUI: C4022764
Disease: Abnormal metabolic brain imaging by MRS
Abnormal metabolic brain imaging by MRS 		2 0 1 0.12 0 0