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: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		3 0 2 0.25 0 0
CUI: C0268486
Disease: Hereditary hypertyrosinemia
Hereditary hypertyrosinemia 		1 0 1 0.14 0 0
CUI: C0858906
Disease: Infection pyogenic
Infection pyogenic 		1 0 1 0.14 0 0
CUI: C1280777
Disease: displaced uterus
displaced uterus 		1 0 1 0.14 0 0
CUI: C1848695
Disease: Episodic peripheral neuropathy
Episodic peripheral neuropathy 		1 0 1 0.14 0 0
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		9 0 2 0.14 0 0
CUI: C3150099
Disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		1 0 1 0.14 0 0
CUI: C4273952
Disease: Folinic acid responsive seizure syndrome
Folinic acid responsive seizure syndrome 		1 0 1 0.14 0 0
CUI: C4310632
Disease: EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 		1 0 1 0.14 0 0
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		2 0 1 0.12 0 0
CUI: C0859974
Disease: Neonatal intestinal obstruction
Neonatal intestinal obstruction 		2 0 1 0.12 0 0
CUI: C1291560
Disease: Deficiency of glutamate decarboxylase
Deficiency of glutamate decarboxylase 		2 0 1 0.12 0 0
CUI: C1291607
Disease: Deficiency of maleylacetoacetate isomerase
Deficiency of maleylacetoacetate isomerase 		2 0 1 0.12 0 0
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		2 0 1 0.12 0 0
CUI: C1860048
Disease: Temporal bossing
Temporal bossing 		2 0 1 0.12 0 0
CUI: C2350233
Disease: Antley-Bixler Syndrome Phenotype
Antley-Bixler Syndrome Phenotype 		2 0 1 0.12 0 0
CUI: C4024734
Disease: Low maternal serum estriol
Low maternal serum estriol 		2 0 1 0.12 0 0
CUI: C4024735
Disease: Maternal virilization in pregnancy
Maternal virilization in pregnancy 		2 0 1 0.12 0 0
CUI: C0266275
Disease: Ectopic adrenal gland
Ectopic adrenal gland 		3 0 1 0.11 0 0
CUI: C1833323
Disease: Rickets of the lower limbs
Rickets of the lower limbs 		3 0 1 0.11 0 0
CUI: C1848702
Disease: Elevated urinary delta-aminolevulinic acid
Elevated urinary delta-aminolevulinic acid 		3 0 1 0.11 0 0
CUI: C1853482
Disease: Pear-shaped nose
Pear-shaped nose 		3 0 1 0.11 0 0
CUI: C4022554
Disease: Hyperpigmented genitalia
Hyperpigmented genitalia 		3 0 1 0.11 0 0
CUI: C0018813
Disease: Myocardial rupture
Myocardial rupture 		14 0 2 0.11 0 0
CUI: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		25 0 3 0.10 0 0