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: C0268474
Disease: Hydroxykynureninuria
Hydroxykynureninuria 		1 0 1 0.50 0 0
CUI: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B 		1 0 1 0.50 0 0
CUI: C4024950
Disease: Nonprogressive encephalopathy
Nonprogressive encephalopathy 		1 0 1 0.50 0 0
CUI: C4049798
Disease: Total Respiratory System Resistance
Total Respiratory System Resistance 		1 0 1 0.50 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 0.33 0 0
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		2 0 1 0.33 0 0
CUI: C3151609
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS 		2 0 1 0.33 0 0
CUI: C3151610
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 		2 0 1 0.33 0 0
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		2 0 1 0.33 0 0
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		2 3 1 0.33 1 0.33
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		3 0 1 0.25 0 0
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		3 0 1 0.25 0 0
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		3 0 1 0.25 0 0
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		4 0 1 0.20 0 0
CUI: C1849334
Disease: Robinow syndrome, autosomal recessive
Robinow syndrome, autosomal recessive 		4 0 1 0.20 0 0
CUI: C1849343
Disease: Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand 		4 0 1 0.20 0 0
CUI: C4021326
Disease: Aplasia/Hypoplasia of the distal phalanges of the toes
Aplasia/Hypoplasia of the distal phalanges of the toes 		4 0 1 0.20 0 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe 		4 0 1 0.20 0 0
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		4 0 1 0.20 0 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 1 0.14 0 0
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		6 0 1 0.14 0 0
CUI: C1836192
Disease: Aplasia/Hypoplasia involving the metacarpal bones
Aplasia/Hypoplasia involving the metacarpal bones 		7 0 1 0.12 0 0
CUI: C1849540
Disease: Delayed eruption of permanent teeth
Delayed eruption of permanent teeth 		10 0 1 9.1E-02 0 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		11 0 1 8.3E-02 0 0
CUI: C1865038
Disease: Broad toe
Broad toe 		11 0 1 8.3E-02 0 0