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: C4025813
Disease: Abnormality of subcutaneous fat tissue
Abnormality of subcutaneous fat tissue 		4 0 3 0.21 0 0
CUI: C0268345
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 		2 0 2 0.15 0 0
CUI: C0268360
Disease: Osteogenesis imperfecta, recessive perinatal lethal
Osteogenesis imperfecta, recessive perinatal lethal 		2 0 2 0.15 0 0
CUI: C1833753
Disease: Biconcave flattened vertebrae
Biconcave flattened vertebrae 		2 0 2 0.15 0 0
CUI: C1833754
Disease: Femoral bowing present at birth, straightening with time
Femoral bowing present at birth, straightening with time 		2 0 2 0.15 0 0
CUI: C1851801
Disease: EDS VIIB
EDS VIIB 		2 0 2 0.15 0 0
CUI: C1859443
Disease: Severe generalized osteoporosis
Severe generalized osteoporosis 		2 0 2 0.15 0 0
CUI: C1867030
Disease: Enlarged lacrimal glands
Enlarged lacrimal glands 		2 0 2 0.15 0 0
CUI: C4021096
Disease: Abnormal reproductive system morphology
Abnormal reproductive system morphology 		2 0 2 0.15 0 0
CUI: C4021629
Disease: Absent ossification of calvaria
Absent ossification of calvaria 		2 0 2 0.15 0 0
CUI: C4021960
Disease: Increased T cell count
Increased T cell count 		2 0 2 0.15 0 0
CUI: C4025854
Disease: Abnormality of the nasal mucosa
Abnormality of the nasal mucosa 		2 0 2 0.15 0 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		26 0 5 0.15 0 0
CUI: C4551623
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 		3 0 2 0.14 0 0
CUI: C1850178
Disease: Bowing of limbs due to multiple fractures
Bowing of limbs due to multiple fractures 		4 0 2 0.13 0 0
CUI: C4022605
Disease: Abnormal liver parenchyma morphology
Abnormal liver parenchyma morphology 		4 0 2 0.13 0 0
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		4 0 2 0.13 0 0
CUI: C0020497
Disease: Cortical Congenital Hyperostosis
Cortical Congenital Hyperostosis 		5 0 2 0.12 0 0
CUI: C2700425
Disease: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 		5 0 2 0.12 0 0
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		5 0 2 0.12 0 0
CUI: C1970497
Disease: Crumpled long bones
Crumpled long bones 		6 0 2 0.12 0 0
CUI: C4021630
Disease: Broad long bones
Broad long bones 		6 0 2 0.12 0 0
CUI: C4280733
Disease: Abnormal cardiac ventricular function
Abnormal cardiac ventricular function 		6 0 2 0.12 0 0
CUI: C0026825
Disease: Flaccid Muscle Tone
Flaccid Muscle Tone 		16 0 3 0.12 0 0
CUI: C0574769
Disease: Loss of scalp hair
Loss of scalp hair 		16 4 3 0.12 3 0.75