Source: CLINVAR ×
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: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		1 86 1 0.50 13 0.12
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails 		1 0 1 0.50 0 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		1 0 1 0.50 0 0
CUI: C1857126
Disease: Parietal bossing
Parietal bossing 		1 0 1 0.50 0 0
CUI: C4477036
Disease: Abnormal location of the eyebrow
Abnormal location of the eyebrow 		1 1 1 0.50 1 2.9E-02
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		2 31 1 0.33 1 1.6E-02
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		3 0 1 0.25 0 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		3 0 1 0.25 0 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		6 0 1 0.14 0 0
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		6 0 1 0.14 0 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		6 0 1 0.14 0 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		6 0 1 0.14 0 0
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		16 0 2 0.12 0 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 2 0.11 0 0
CUI: C0578038
Disease: Thin lips
Thin lips 		8 0 1 0.11 0 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 0 2 0.11 0 0
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		8 0 1 0.11 0 0
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		22 0 2 9.1E-02 0 0
CUI: C0683322
Disease: Mental impairment
Mental impairment 		10 0 1 9.1E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		10 0 1 9.1E-02 0 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 0 2 8.7E-02 0 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		11 0 1 8.3E-02 0 0
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		11 11 1 8.3E-02 1 2.3E-02
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		26 0 2 7.7E-02 0 0
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		12 0 1 7.7E-02 0 0