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: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 0 1 9.1E-04 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 2.2E-02 0 0
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		757 0 1 1.3E-03 0 0
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		766 0 1 1.3E-03 0 0
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		375 0 1 2.7E-03 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 0 1 7.9E-04 0 0
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		32 0 1 3.1E-02 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 1 1.2E-03 0 0
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		1037 0 1 9.6E-04 0 0
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		150 0 1 6.7E-03 0 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		305 0 1 3.3E-03 0 0
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		299 0 1 3.3E-03 0 0
CUI: C0025990
Disease: Micrognathism
Micrognathism 		586 0 1 1.7E-03 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 1 9.6E-03 0 0
CUI: C0026499
Disease: Monosomy
Monosomy 		214 0 1 4.7E-03 0 0
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		28 0 1 3.6E-02 0 0
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		280 0 1 3.6E-03 0 0
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		297 0 1 3.4E-03 0 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		85 0 1 1.2E-02 0 0
CUI: C0028754
Disease: Obesity
Obesity 		2821 0 1 3.5E-04 0 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		1827 0 1 5.5E-04 0 0
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		207 0 1 4.8E-03 0 0
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		2283 0 1 4.4E-04 0 0
CUI: C0035579
Disease: Rickets
Rickets 		72 0 1 1.4E-02 0 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 0 1 1.2E-03 0 0