Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Short rib-polydactyly syndrome, Verma-Naumoff type
6 0 2 0.20 0 0
CUI: C1406921
Disease: Thoracic dysplasia
Thoracic dysplasia
6 0 2 0.20 0 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
20 31 4 0.18 1 2.6E-02
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
1 0 1 0.17 0 0
CUI: C1837464
Disease: Small eyes
Small eyes
1 0 1 0.17 0 0
CUI: C1855000
Disease: Agenesis of central incisor
Agenesis of central incisor
1 0 1 0.17 0 0
Malformation of the hepatic ductal plate
1 0 1 0.17 0 0
CUI: C1970005
Disease: Asphyxiating Thoracic Dystrophy 2
Asphyxiating Thoracic Dystrophy 2
1 0 1 0.17 0 0
Oral-facial-digital syndrome, type 2
1 0 1 0.17 0 0
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
1 0 1 0.17 0 0
CUI: C3280612
Disease: NEPHRONOPHTHISIS 13
NEPHRONOPHTHISIS 13
1 0 1 0.17 0 0
Disproportionate shortening of the tibia
1 0 1 0.17 0 0
Complete duplication of hallux phalanx
1 0 1 0.17 0 0
CUI: C4021618
Disease: Polysyndactyly of hallux
Polysyndactyly of hallux
1 0 1 0.17 0 0
CUI: C4225376
Disease: SENIOR-LOKEN SYNDROME 8
SENIOR-LOKEN SYNDROME 8
1 0 1 0.17 0 0
Unilateral alveolar cleft of maxilla
1 0 1 0.17 0 0
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24
1 0 1 0.17 0 0
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
16 0 3 0.16 0 0
CUI: C0238591
Disease: Adactyly
Adactyly
2 0 1 0.14 0 0
CUI: C0341007
Disease: Alveolar ridge abnormality
Alveolar ridge abnormality
2 0 1 0.14 0 0
CUI: C0432235
Disease: CRANIOECTODERMAL DYSPLASIA 1
CRANIOECTODERMAL DYSPLASIA 1
10 0 2 0.14 0 0
CUI: C1855277
Disease: Shortening of the tibia
Shortening of the tibia
2 0 1 0.14 0 0
Cone-shaped epiphyses of phalanges 2 to 5
2 0 1 0.14 0 0
Spondylometaphyseal dysplasia, axial
2 0 1 0.14 0 0
SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
2 0 1 0.14 0 0