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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 2 0.12 2 0.11
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
Abnormal Descemet membrane morphology 		1 1 1 0.20 1 0.20
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 0.11 1 8.3E-02
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 0.20 1 0.20
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		1 1 1 0.20 1 0.20
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 0 1 0.17 0 0
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		2 0 2 0.40 0 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 1 7.7E-02 1 3.6E-02
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		5 0 1 0.11 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible 		1 1 1 0.20 1 0.20
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 8.3E-02 1 6.7E-02
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		9 9 1 7.7E-02 1 7.7E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 1 1.0E-01 0 0
CUI: C1854882
Disease: Absent speech
Absent speech 		46 0 1 2.0E-02 0 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		1 1 1 0.20 1 0.20
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 0.20 1 0.20
CUI: C4310809
Disease: ANTERIOR SEGMENT DYSGENESIS 5
ANTERIOR SEGMENT DYSGENESIS 5 		6 0 1 1.0E-01 0 0
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
Anterior segment mesenchymal dysgenesis 		2 2 1 0.17 1 0.17
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary 		2 4 1 0.17 1 0.12
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		1 1 1 0.20 1 0.20
CUI: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		7 8 1 9.1E-02 1 8.3E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 0 1 2.1E-02 0 0
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		5 0 1 0.11 0 0
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		1 0 1 0.20 0 0
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		3 117 1 0.14 1 8.3E-03