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: C3810283
Disease: SCHWANNOMATOSIS 2
SCHWANNOMATOSIS 2 		1 0 1 0.14 0 0
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		1 1 1 0.14 1 0.20
CUI: C4023675
Disease: Acromelia
Acromelia 		1 2 1 0.14 2 0.40
CUI: C4024270
Disease: Distally placed thumb
Distally placed thumb 		1 2 1 0.14 2 0.40
CUI: C4025165
Disease: Cutaneous syndactyly between fingers 2 and 5
Cutaneous syndactyly between fingers 2 and 5 		1 2 1 0.14 2 0.40
CUI: C4084822
Disease: JOUBERT SYNDROME 23
JOUBERT SYNDROME 23 		1 0 1 0.14 0 0
CUI: C4225280
Disease: NOONAN SYNDROME 10
NOONAN SYNDROME 10 		1 0 1 0.14 0 0
CUI: C4225286
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 		1 0 1 0.14 0 0
CUI: C4697708
Disease: Dolichocephalic
Dolichocephalic 		1 0 1 0.14 0 0
CUI: C0426808
Disease: Long clavicle
Long clavicle 		10 0 2 0.13 0 0
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
Dilatation of pulmonary artery, unspecified 		2 2 1 0.12 1 0.17
CUI: C0747651
Disease: Recurrent aspiration pneumonia
Recurrent aspiration pneumonia 		11 0 2 0.12 0 0
CUI: C1290587
Disease: Failure of tooth eruption
Failure of tooth eruption 		2 0 1 0.12 0 0
CUI: C1291490
Disease: Hyaluronidase Deficiency
Hyaluronidase Deficiency 		2 0 1 0.12 0 0
CUI: C1839507
Disease: Thick skull base
Thick skull base 		2 0 1 0.12 0 0
CUI: C1853120
Disease: Noonan Syndrome 4
Noonan Syndrome 4 		2 0 1 0.12 0 0
CUI: C1855274
Disease: Mesomelic short stature
Mesomelic short stature 		2 0 1 0.12 0 0
CUI: C1859158
Disease: Laryngeal calcification
Laryngeal calcification 		2 0 1 0.12 0 0
CUI: C1860202
Disease: Unossified vertebral bodies
Unossified vertebral bodies 		2 0 1 0.12 0 0
CUI: C2748861
Disease: Cortical malformations
Cortical malformations 		2 0 1 0.12 0 0
CUI: C4020870
Disease: Abnormality of the hip joint
Abnormality of the hip joint 		2 2 1 0.12 2 0.40
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 2 1 0.12 2 0.40
CUI: C3275899
Disease: Hyperechogenic kidneys
Hyperechogenic kidneys 		12 0 2 0.12 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 2 0.11 0 0