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: C0265281
Disease: Metatropic dwarfism
Metatropic dwarfism 		1 19 1 5.4E-03 17 0.25
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, Kozlowski type 		1 11 1 5.4E-03 10 0.15
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		171 50 3 8.5E-03 12 0.12
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 180 0.85 8 9.6E-02
CUI: C1853710
Disease: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 		5 13 1 5.3E-03 6 8.3E-02
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 		1 5 1 5.4E-03 4 6.1E-02
CUI: C1866730
Disease: Rhizomelia
Rhizomelia 		57 6 20 9.0E-02 4 6.0E-02
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		3 9 1 5.3E-03 4 5.7E-02
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		12 10 5 2.6E-02 4 5.6E-02
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 7 2.9E-02 4 5.6E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 2 1.0E-02 4 5.1E-02
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 5 2.5E-02 4 5.1E-02
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		6 3 3 1.6E-02 3 4.6E-02
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		9 3 2 1.0E-02 3 4.6E-02
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		35 5 21 0.10 3 4.5E-02
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 5.4E-03 3 4.3E-02
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 5.4E-03 3 4.2E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 2 1.1E-02 3 4.1E-02
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 6 3.1E-02 4 3.9E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 66 0.15 4 3.8E-02
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 17 5 2.6E-02 3 3.8E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 13 5.9E-02 3 3.6E-02
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		44 21 4 1.8E-02 3 3.6E-02
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		253 31 5 1.2E-02 3 3.2E-02
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 1 5.3E-03 3 3.2E-02