Source: INFERRED ×
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: C0557874
Disease: Global developmental delay
Global developmental delay 		1458 505 835 0.44 138 0.18
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		1259 6 688 0.37 2 4.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		954 579 585 0.35 52 5.5E-02
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		942 164 552 0.33 41 7.6E-02
CUI: C0025958
Disease: Microcephaly
Microcephaly 		855 0 502 0.31 0 0
CUI: C0004134
Disease: Ataxia
Ataxia 		609 17 408 0.27 1 2.3E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		682 85 416 0.27 31 6.6E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		803 83 430 0.26 19 4.0E-02
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 413 0.25 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 413 0.25 0 0
CUI: C0349588
Disease: Short stature
Short stature 		1122 292 466 0.24 33 4.9E-02
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		734 0 391 0.24 0 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1039 13 447 0.24 2 4.7E-03
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		1005 0 439 0.24 0 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		574 49 334 0.22 7 1.5E-02
CUI: C0033377
Disease: Ptosis
Ptosis 		558 0 325 0.21 0 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		508 34 313 0.21 6 1.3E-02
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		773 120 356 0.21 22 4.3E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		491 39 289 0.19 7 1.6E-02
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		476 0 278 0.19 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 64 273 0.18 9 1.9E-02
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		459 62 266 0.18 23 5.0E-02
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		596 47 283 0.18 7 1.5E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		324 78 242 0.18 33 7.1E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 77 281 0.18 11 2.3E-02