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: C0028754
Disease: Obesity
Obesity 		2821 1111 4 1.4E-03 1 9.0E-04
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		1630 348 3 1.8E-03 1 2.8E-03
CUI: C0349588
Disease: Short stature
Short stature 		1127 292 1 8.8E-04 1 3.4E-03
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 4 1.2E-02 1 2.1E-02
CUI: C3494506
Disease: Pseudohypoparathyroidism, Type Ia
Pseudohypoparathyroidism, Type Ia 		30 20 4 0.13 3 0.14
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		94 13 2 2.1E-02 1 5.9E-02
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism 		14 11 3 0.20 2 0.14
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		45 10 1 2.1E-02 2 0.15
CUI: C1857451
Disease: Acth-Independent Macronodular Adrenal Hyperplasia
Acth-Independent Macronodular Adrenal Hyperplasia 		46 8 1 2.0E-02 2 0.18
CUI: C4540135
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES
PITUITARY ADENOMA 3, MULTIPLE TYPES 		1 6 1 0.25 2 0.22
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		4 5 2 0.33 2 0.25
CUI: C0239479
Disease: Round face
Round face 		88 3 1 1.1E-02 1 0.14
CUI: C1864100
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB
PSEUDOHYPOPARATHYROIDISM, TYPE IB 		13 2 3 0.21 2 0.40
CUI: C0039621
Disease: Tetany
Tetany 		24 1 2 7.7E-02 1 0.20
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		80 1 1 1.2E-02 1 0.20
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		251 0 1 3.9E-03 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 2.0E-02 0 0
CUI: C0001206
Disease: Acromegaly
Acromegaly 		138 0 4 2.9E-02 0 0
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		435 0 1 2.3E-03 0 0
CUI: C0001403
Disease: Addison Disease
Addison Disease 		111 0 1 8.8E-03 0 0
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		2235 0 2 8.9E-04 0 0
CUI: C0001430
Disease: Adenoma
Adenoma 		1183 0 4 3.4E-03 0 0
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		74 0 1 1.3E-02 0 0
CUI: C0001622
Disease: Adrenal Gland Hyperfunction
Adrenal Gland Hyperfunction 		50 0 2 3.8E-02 0 0