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: C1300267
Disease: Brachydactyly syndrome type B
Brachydactyly syndrome type B 		1 0 1 0.33 0 0
CUI: C3553735
Disease: Microcephaly in adulthood
Microcephaly in adulthood 		1 0 1 0.33 0 0
CUI: C4049798
Disease: Total Respiratory System Resistance
Total Respiratory System Resistance 		1 0 1 0.33 0 0
CUI: C0432152
Disease: Thoracic hemivertebra
Thoracic hemivertebra 		2 0 1 0.25 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 0.25 0 0
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		2 0 1 0.25 0 0
CUI: C2004632
Disease: aberrant right subclavian artery
aberrant right subclavian artery 		2 0 1 0.25 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 0.25 0 0
CUI: C3151610
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 		2 0 1 0.25 0 0
CUI: C3542022
Disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		2 0 1 0.25 0 0
CUI: C4540004
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 		2 2 1 0.25 2 1.00
CUI: C4540014
Disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 		2 0 1 0.25 0 0
CUI: C4022715
Disease: Hypoplastic female external genitalia
Hypoplastic female external genitalia 		3 0 1 0.20 0 0
CUI: C4551475
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 		3 0 1 0.20 0 0
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		4 0 1 0.17 0 0
CUI: C0281890
Disease: Laryngeal web
Laryngeal web 		4 2 1 0.17 1 0.33
CUI: C1849334
Disease: Robinow syndrome, autosomal recessive
Robinow syndrome, autosomal recessive 		4 0 1 0.17 0 0
CUI: C1849343
Disease: Duplication of the distal phalanx of hand
Duplication of the distal phalanx of hand 		4 0 1 0.17 0 0
CUI: C3808988
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
FANCONI ANEMIA, COMPLEMENTATION GROUP Q 		4 0 1 0.17 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 0.17 0 0
CUI: C4021772
Disease: Bifid distal phalanx of toe
Bifid distal phalanx of toe 		4 0 1 0.17 0 0
CUI: C4025857
Disease: Incomplete partition of the cochlea type II
Incomplete partition of the cochlea type II 		4 1 1 0.17 1 0.50
CUI: C4551476
Disease: Robinow Syndrome, Autosomal Dominant
Robinow Syndrome, Autosomal Dominant 		4 0 1 0.17 0 0
CUI: C1835570
Disease: Hypoplastic cervical vertebrae
Hypoplastic cervical vertebrae 		5 1 1 0.14 1 0.50
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 1 0.12 0 0