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: C2674171
Disease: Lethal short-limbed short stature
Lethal short-limbed short stature 		1 1 1 0.33 1 9.1E-02
CUI: C2676443
Disease: Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis 		5 0 2 0.33 0 0
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		1 8 1 0.33 7 0.58
CUI: C2930792
Disease: Familial acanthosis nigricans
Familial acanthosis nigricans 		1 1 1 0.33 1 9.1E-02
CUI: C2930793
Disease: Achondroplastic dwarfism
Achondroplastic dwarfism 		1 0 1 0.33 0 0
CUI: C3267076
Disease: Familial scaphocephaly syndrome
Familial scaphocephaly syndrome 		1 0 1 0.33 0 0
CUI: C3272759
Disease: Brain Development Abnormality
Brain Development Abnormality 		1 0 1 0.33 0 0
CUI: C3552414
Disease: Deviation of the thumb
Deviation of the thumb 		1 0 1 0.33 0 0
CUI: C3843745
Disease: Squamous cell (epidermoid) carcinoma
Squamous cell (epidermoid) carcinoma 		1 0 1 0.33 0 0
CUI: C4016104
Disease: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA 		1 0 1 0.33 0 0
CUI: C4016344
Disease: PFEIFFER SYNDROME VARIANT
PFEIFFER SYNDROME VARIANT 		1 0 1 0.33 0 0
CUI: C4016345
Disease: PFEIFFER SYNDROME, TYPE III
PFEIFFER SYNDROME, TYPE III 		1 0 1 0.33 0 0
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		1 0 1 0.33 0 0
CUI: C4020971
Disease: Abnormality of lower limb joint
Abnormality of lower limb joint 		1 0 1 0.33 0 0
CUI: C4021625
Disease: Spinal stenosis with reduced interpedicular distance
Spinal stenosis with reduced interpedicular distance 		1 0 1 0.33 0 0
CUI: C4023454
Disease: Metopic depression
Metopic depression 		1 0 1 0.33 0 0
CUI: C4023628
Disease: Mild fetal ventriculomegaly
Mild fetal ventriculomegaly 		1 0 1 0.33 0 0
CUI: C4023749
Disease: Abnormality of the zygomatic bone
Abnormality of the zygomatic bone 		1 0 1 0.33 0 0
CUI: C4025083
Disease: Thimble-shaped middle phalanges of hand
Thimble-shaped middle phalanges of hand 		1 0 1 0.33 0 0
CUI: C4073134
Disease: Abnormality of the periosteum
Abnormality of the periosteum 		1 0 1 0.33 0 0
CUI: C4225629
Disease: SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS
SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS 		1 1 1 0.33 1 9.1E-02
CUI: C1275277
Disease: Soft tissue chondroma
Soft tissue chondroma 		6 0 2 0.29 0 0
CUI: C1846474
Disease: Small thenar eminence
Small thenar eminence 		6 0 2 0.29 0 0
CUI: C1867060
Disease: Lacrimal Puncta, Absence of
Lacrimal Puncta, Absence of 		6 0 2 0.29 0 0
CUI: C0011645
Disease: Dermatosis Papulosa Nigra
Dermatosis Papulosa Nigra 		2 0 1 0.25 0 0