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: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
1 86 1 3.0E-03 1 1.4E-03
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
1 0 1 3.0E-03 0 0
Pyruvate Dehydrogenase Complex Deficiency Disease
1 0 1 3.0E-03 0 0
CUI: C0034933
Disease: Reflex, Abnormal
Reflex, Abnormal
1 0 1 3.0E-03 0 0
CUI: C0035321
Disease: Retinal Perforations
Retinal Perforations
1 0 1 3.0E-03 0 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
1 0 1 3.0E-03 0 0
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease
1 0 1 3.0E-03 0 0
CUI: C0037284
Disease: Skin lesion
Skin lesion
1 0 1 3.0E-03 0 0
CUI: C0040124
Disease: Thyroglossal Cyst
Thyroglossal Cyst
1 0 1 3.0E-03 0 0
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
1 0 1 3.0E-03 0 0
CUI: C0040416
Disease: Tonic Pupil
Tonic Pupil
1 0 1 3.0E-03 0 0
CUI: C0079294
Disease: Epidermolysis Bullosa Dystrophica
Epidermolysis Bullosa Dystrophica
1 0 1 3.0E-03 0 0
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
1 0 1 3.0E-03 0 0
CUI: C0085417
Disease: Epilepsy, Complex Partial
Epilepsy, Complex Partial
1 0 1 3.0E-03 0 0
CUI: C0086648
Disease: MPS III B
MPS III B
1 0 1 3.0E-03 0 0
CUI: C0152190
Disease: Refractive amblyopia
Refractive amblyopia
1 1 1 3.0E-03 1 1.6E-03
Esotropia with accommodative compensation
1 0 1 3.0E-03 0 0
CUI: C0155411
Disease: Exostosis of external ear canal
Exostosis of external ear canal
1 0 1 3.0E-03 0 0
CUI: C0159020
Disease: Convulsions in the newborn
Convulsions in the newborn
1 0 1 3.0E-03 0 0
Congenital stenosis of pulmonary valve
1 3 1 3.0E-03 1 1.6E-03
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
Smith-Lemli-Opitz Syndrome
1 84 1 3.0E-03 1 1.4E-03
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
1 0 1 3.0E-03 0 0
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor
1 0 1 3.0E-03 0 0
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma
1 0 1 3.0E-03 0 0
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
1 3 1 3.0E-03 1 1.6E-03