Source: CLINVAR ×
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: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 1.00 2 9.1E-02
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		1 21 1 1.00 3 9.1E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		1 14 1 1.00 5 0.21
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		1 0 1 1.00 0 0
CUI: C1851152
Disease: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 		1 1 1 1.00 1 6.7E-02
CUI: C1859460
Disease: Bowed humerus
Bowed humerus 		1 1 1 1.00 1 6.7E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		1 7 1 1.00 2 1.0E-01
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 1.00 2 8.7E-02
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		1 12 1 1.00 4 0.17
CUI: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 1.00 1 6.7E-02
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		1 7 1 1.00 2 1.0E-01
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 1.00 3 0.15
CUI: C4021164
Disease: Bicoronal synostosis
Bicoronal synostosis 		1 0 1 1.00 0 0
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		1 0 1 1.00 0 0
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		2 4 1 0.50 2 0.12
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		2 5 1 0.50 2 0.11
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		2 7 1 0.50 2 1.0E-01
CUI: C0334517
Disease: Spermatocytic seminoma
Spermatocytic seminoma 		2 2 1 0.50 1 6.2E-02
CUI: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		2 3 1 0.50 1 5.9E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		2 7 1 0.50 5 0.29
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		2 3 1 0.50 1 5.9E-02
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		2 0 1 0.50 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		2 0 1 0.50 0 0
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		3 0 1 0.33 0 0
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		3 32 1 0.33 2 4.4E-02