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: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		3 9 1 0.33 7 0.70
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 1.00 7 0.64
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 1 0.33 7 0.58
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 1 9.1E-02 7 0.39
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 1 2.2E-02 8 0.38
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 1 5.0E-02 7 0.37
CUI: C0334082
Disease: NEVUS, EPIDERMAL (disorder)
NEVUS, EPIDERMAL (disorder) 		14 17 1 7.1E-02 6 0.32
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		12 10 1 8.3E-02 4 0.29
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 1 0.20 7 0.21
CUI: C0263641
Disease: Epithelial hyperplasia of skin
Epithelial hyperplasia of skin 		79 4 1 1.3E-02 2 0.20
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		253 31 1 4.0E-03 6 0.18
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 1 6.2E-02 7 0.16
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		44 21 1 2.3E-02 4 0.16
CUI: C0024215
Disease: Lymphangiectasis, Intestinal
Lymphangiectasis, Intestinal 		0 1 0 0 1 0.12
CUI: C0025995
Disease: Micromelia
Micromelia 		104 1 1 9.6E-03 1 0.12
CUI: C0243066
Disease: Atresia
Atresia 		44 1 1 2.3E-02 1 0.12
CUI: C0265654
Disease: Tarsal Coalition
Tarsal Coalition 		22 1 1 4.5E-02 1 0.12
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		6 1 1 0.17 1 0.12
CUI: C0522618
Disease: Focal dysplasia
Focal dysplasia 		3 1 1 0.33 1 0.12
CUI: C0744483
Disease: growth hormone treatment
growth hormone treatment 		20 1 1 5.0E-02 1 0.12
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 1 1 8.5E-03 1 0.12
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 1 1 1.00 1 0.12
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		4 1 1 0.25 1 0.12
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 1.00 1 0.12
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		1 1 1 1.00 1 0.12