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: C4020917
Disease: Absent fifth fingernail
Absent fifth fingernail
2 0 2 0.33 0 0
CUI: C4551773
Disease: ZIMMERMANN-LABAND SYNDROME 1
ZIMMERMANN-LABAND SYNDROME 1
2 0 2 0.33 0 0
CUI: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia
3 0 2 0.29 0 0
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome
8 0 3 0.27 0 0
CUI: C1848769
Disease: Overtubulated long bones
Overtubulated long bones
4 0 2 0.25 0 0
CUI: C4024168
Disease: Thickened ears
Thickened ears
7 0 2 0.18 0 0
CUI: C1849307
Disease: Increased density of long bones
Increased density of long bones
1 0 1 0.17 0 0
CUI: C1849309
Disease: Wide distal femoral metaphysis
Wide distal femoral metaphysis
1 0 1 0.17 0 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis
8 0 2 0.17 0 0
CUI: C2675185
Disease: Kahrizi Syndrome
Kahrizi Syndrome
1 0 1 0.17 0 0
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
1 0 1 0.17 0 0
CUI: C2678486
Disease: Temple-Baraitser Syndrome
Temple-Baraitser Syndrome
1 0 1 0.17 0 0
CUI: C2678488
Disease: Hypoplasia of terminal phalanges
Hypoplasia of terminal phalanges
1 0 1 0.17 0 0
CUI: C3552484
Disease: Pseudoepiphysis of the thumb
Pseudoepiphysis of the thumb
1 0 1 0.17 0 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
1 12 1 0.17 1 6.7E-02
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
1 0 1 0.17 0 0
CUI: C4021081
Disease: Absent nail of hallux
Absent nail of hallux
1 0 1 0.17 0 0
CUI: C4021532
Disease: Abnormality of the stapes
Abnormality of the stapes
1 0 1 0.17 0 0
CUI: C4022850
Disease: Hypoplastic thumbnail
Hypoplastic thumbnail
1 0 1 0.17 0 0
CUI: C4025189
Disease: Metopic suture patent to nasal root
Metopic suture patent to nasal root
1 0 1 0.17 0 0
CUI: C4025216
Disease: Prominent nasal septum
Prominent nasal septum
1 0 1 0.17 0 0
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2
1 0 1 0.17 0 0
Congenital hypoplasia of tricuspid valve
2 0 1 0.14 0 0
Complex atypical endometrial hyperplasia
2 0 1 0.14 0 0
Aplasia/Hypoplasia of the pubic bone
2 0 1 0.14 0 0