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: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		34 4 15 0.30 4 0.67
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		725 80 23 3.1E-02 1 1.2E-02
CUI: C0013393
Disease: Dysostoses
Dysostoses 		16 1 1 2.2E-02 1 0.17
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		92 14 1 8.2E-03 1 5.3E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		186 20 2 9.3E-03 1 4.0E-02
CUI: C0266544
Disease: Microcornea
Microcornea 		129 10 1 6.3E-03 1 6.7E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		271 106 1 3.3E-03 1 9.0E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		1825 553 3 1.6E-03 1 1.8E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		169 45 1 5.0E-03 1 2.0E-02
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 		2 6 2 6.5E-02 1 9.1E-02
CUI: C3553250
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 		2 10 2 6.5E-02 1 6.7E-02
CUI: C4522319
Disease: Acrodysostosis 1
Acrodysostosis 1 		1 1 1 3.2E-02 1 0.17
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.0E-03 0 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 13 1.2E-02 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.6E-03 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 1.3E-02 0 0
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		243 0 1 3.7E-03 0 0
CUI: C0001206
Disease: Acromegaly
Acromegaly 		138 0 3 1.8E-02 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 2 4.3E-03 0 0
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		130 0 1 6.3E-03 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 1 7.1E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 10 4.4E-03 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 8 6.6E-03 0 0
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		145 0 1 5.7E-03 0 0
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		74 0 2 1.9E-02 0 0