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: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1 0 1 0.50 0 0
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		1 0 1 0.50 0 0
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		1 0 1 0.50 0 0
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
Craniometaphyseal dysplasia, autosomal recessive type 		1 0 1 0.50 0 0
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		1 0 1 0.50 0 0
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3 		1 0 1 0.50 0 0
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
CORNELIA DE LANGE SYNDROME 5 		1 26 1 0.50 1 3.7E-02
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		1 0 1 0.50 0 0
CUI: C4479619
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 		1 0 1 0.50 0 0
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		1 0 1 0.50 0 0
CUI: C2919341
Disease: Edema of dorsum of foot
Edema of dorsum of foot 		2 2 1 0.33 1 0.33
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		2 2 1 0.33 1 0.33
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		3 0 1 0.25 0 0
CUI: C1842878
Disease: Short 5th finger
Short 5th finger 		3 0 1 0.25 0 0
CUI: C0497406
Disease: Overweight
Overweight 		4 0 1 0.20 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		4 0 1 0.20 0 0
CUI: C4020740
Disease: Clinodactyly of the 4th toe
Clinodactyly of the 4th toe 		4 0 1 0.20 0 0
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe 		4 0 1 0.20 0 0
CUI: C4551851
Disease: Cornelia de Lange Syndrome 1
Cornelia de Lange Syndrome 1 		4 0 1 0.20 0 0
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		5 6 1 0.17 1 0.14
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts 		6 0 1 0.14 0 0
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		6 0 1 0.14 0 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		6 7 1 0.14 1 0.12
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		7 0 1 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		8 10 1 0.11 1 9.1E-02