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: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 7 1.4E-02 14 0.11
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		20 24 12 2.4E-02 12 0.12
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 7 1.4E-02 12 0.11
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		14 29 6 1.2E-02 10 9.2E-02
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		5 33 3 6.1E-03 9 7.9E-02
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME 		3 20 2 4.1E-03 9 8.9E-02
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome 		3 11 3 6.1E-03 9 9.8E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		2113 316 196 8.1E-02 8 2.0E-02
CUI: C0432123
Disease: Sagittal craniosynostosis
Sagittal craniosynostosis 		35 13 21 4.2E-02 8 8.4E-02
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		11 17 3 6.0E-03 8 8.1E-02
CUI: C1852406
Disease: Cutis Gyrata Syndrome of Beare And Stevenson
Cutis Gyrata Syndrome of Beare And Stevenson 		2 16 2 4.1E-03 8 8.2E-02
CUI: C0004096
Disease: Asthma
Asthma 		2096 1536 238 0.10 7 4.3E-03
CUI: C0039075
Disease: Syndactyly
Syndactyly 		127 26 31 5.3E-02 7 6.4E-02
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 10 2.0E-02 7 5.6E-02
CUI: C1868678
Disease: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
THANATOPHORIC DYSPLASIA, TYPE I (disorder) 		20 18 8 1.6E-02 7 6.9E-02
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 21 20 3.9E-02 6 5.7E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		8621 1641 405 4.7E-02 6 3.5E-03
CUI: C0036572
Disease: Seizures
Seizures 		2152 553 181 7.4E-02 6 9.4E-03
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 33 18 3.6E-02 6 5.1E-02
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		43 8 24 4.7E-02 6 6.5E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 144 6.6E-02 6 9.4E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		8221 1374 397 4.8E-02 6 4.1E-03
CUI: C1864852
Disease: CATSHL syndrome
CATSHL syndrome 		1 10 1 2.0E-03 6 6.4E-02
CUI: C2674173
Disease: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans 		3 9 1 2.0E-03 6 6.5E-02
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 2.0E-03 6 6.5E-02