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: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 12 0.60 10 0.56
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		3 9 1 7.1E-02 5 0.36
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 3 0.15 7 0.35
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 8.3E-02 4 0.29
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 8.3E-02 4 0.25
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 7 0.14 6 0.24
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 1 7.1E-02 4 0.24
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 17 2 8.3E-02 5 0.23
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		44 21 2 3.7E-02 5 0.19
CUI: C1300256
Disease: Thanatophoric dysplasia, type 1
Thanatophoric dysplasia, type 1 		1 4 1 8.3E-02 2 0.17
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 1 3.7E-02 7 0.16
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		385 8 5 1.3E-02 2 0.12
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 26 6 2.8E-02 4 0.12
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		253 31 2 7.6E-03 4 0.11
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		64 11 2 2.7E-02 2 0.11
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 1 6.2E-02 4 0.10
CUI: C0024215
Disease: Lymphangiectasis, Intestinal
Lymphangiectasis, Intestinal 		0 1 0 0 1 1.0E-01
CUI: C0025995
Disease: Micromelia
Micromelia 		104 1 2 1.8E-02 1 1.0E-01
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		25 1 1 2.8E-02 1 1.0E-01
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		6 1 2 0.12 1 1.0E-01
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia 		3 1 1 7.1E-02 1 1.0E-01
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		20 1 2 6.7E-02 1 1.0E-01
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 1 1 8.3E-02 1 1.0E-01
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 1 1 6.7E-02 1 1.0E-01
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 8.3E-02 1 1.0E-01