* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID	Gene_Symbol	DisGeNet_diseaseID	Disease_name	DisGeNet score	DisGeNet_sourceDB
4952	OCRL	C0028860	Oculocerebrorenal Syndrome	0.627704339073571	BEFREE;CTD_human;LHGDN;ORPHANET;UNIPROT
4952	OCRL	C1845167	Dent Disease 2	0.601373633921066	BEFREE;CTD_human;ORPHANET;UNIPROT
4952	OCRL	C0009691	Congenital cataract	0.201373633921065	BEFREE;HPO
4952	OCRL	C3714756	Intellectual Disability	0.201098907136852	BEFREE;HPO
4952	OCRL	C0025362	Mental Retardation	0.200824180352639	BEFREE;HPO
4952	OCRL	C0086543	Cataract	0.200824180352639	BEFREE;HPO
4952	OCRL	C1848336	Dent disease 1	0.200549453568426	BEFREE;CTD_human
4952	OCRL	C0035078	Kidney Failure	0.200274726784213	BEFREE;HPO
4952	OCRL	C0268731	Renal glomerular disease	0.2	HPO
4952	OCRL	C0278124	Absent tendon reflex	0.2	HPO
4952	OCRL	C0338656	Impaired cognition	0.2	HPO
4952	OCRL	C0341703	Adult Fanconi syndrome	0.2	HPO
4952	OCRL	C0347509	Benign neoplasm of central nervous system	0.2	HPO
4952	OCRL	C0349588	Short stature	0.2	HPO
4952	OCRL	C0392386	Decreased platelet count	0.2	HPO
4952	OCRL	C0409348	Flexion contracture of proximal interphalangeal joint	0.2	HPO
4952	OCRL	C0423221	Globe of eye large	0.2	HPO
4952	OCRL	C0423224	Sunken eyes	0.2	HPO
4952	OCRL	C0423867	Fine hair	0.2	HPO
4952	OCRL	C0423903	Low intelligence	0.2	HPO
4952	OCRL	C0424323	Physical aggression	0.2	HPO
4952	OCRL	C0557874	Global developmental delay	0.2	HPO
4952	OCRL	C0576093	Knee joint valgus deformity	0.2	HPO
4952	OCRL	C0595929	Serum cholesterol raised	0.2	HPO
4952	OCRL	C0600104	Obsessive compulsive behavior	0.2	HPO
4952	OCRL	C0683322	Mental impairment	0.2	HPO
4952	OCRL	C0700208	Acquired scoliosis	0.2	HPO
4952	OCRL	C0740927	Elevated maternal serum alpha-fetoprotein	0.2	HPO
4952	OCRL	C0746926	Multiple, subcutaneous nodules	0.2	HPO
4952	OCRL	C0748318	Progressive renal failure	0.2	HPO
4952	OCRL	C0917816	Mental deficiency	0.2	HPO
4952	OCRL	C0948023	Urine phosphorous concentration above normal	0.2	HPO
4952	OCRL	C0973461	Dysphasia	0.2	HPO
4952	OCRL	C1263846	Attention deficit hyperactivity disorder	0.2	HPO
4952	OCRL	C1305420	Prominent ear	0.2	HPO
4952	OCRL	C1457883	Aggressive reaction	0.2	HPO
4952	OCRL	C1510497	Lens Opacities	0.2	HPO
4952	OCRL	C1561643	Chronic Kidney Diseases	0.2	HPO
4952	OCRL	C1565489	Renal Insufficiency	0.2	HPO
4952	OCRL	C1833752	Varying degree of multiple fractures	0.2	HPO
4952	OCRL	C1836047	Long face	0.2	HPO
4952	OCRL	C1837352	Childhood onset	0.2	HPO
4952	OCRL	C1839603	Proximal tubulopathy	0.2	HPO
4952	OCRL	C1839604	Renal failure in adulthood	0.2	HPO
4952	OCRL	C1839606	Low-molecular-weight proteinuria	0.2	HPO
4952	OCRL	C1839858	Periventricular cysts	0.2	HPO
4952	OCRL	C1839860	Elevated amniotic fluid alpha-fetoprotein	0.2	HPO
4952	OCRL	C1839865	Bicarbonaturia	0.2	HPO
4952	OCRL	C1839866	Elevated serum acid phosphatase	0.2	HPO
4952	OCRL	C1843367	Poor school performance	0.2	HPO
4952	OCRL	C1844704	Platyspondyly	0.2	HPO
4952	OCRL	C1844820	Range of joint movement increased	0.2	HPO
4952	OCRL	C1845112	Hyperkyphosis	0.2	HPO
4952	OCRL	C1845977	X- linked recessive	0.2	HPO
4952	OCRL	C1849923	Generalized hypopigmentation	0.2	HPO
4952	OCRL	C1851854	Thin dental enamel	0.2	HPO
4952	OCRL	C1855285	Protruding ears	0.2	HPO
4952	OCRL	C1857042	Sparse scalp hair	0.2	HPO
4952	OCRL	C1857486	Low-set, posteriorly rotated ears	0.2	HPO
4952	OCRL	C1864897	Cognitive delay	0.2	HPO
4952	OCRL	C1866231	Full cheeks	0.2	HPO
4952	OCRL	C2267233	Neonatal Hypotonia	0.2	HPO
4952	OCRL	C2315100	Pediatric failure to thrive	0.2	HPO
4952	OCRL	C2674608	Feeding difficulties in infancy	0.2	HPO
4952	OCRL	C2748653	Chubby cheeks	0.2	HPO
4952	OCRL	C3277059	Congenital Bilateral Cataracts	0.2	HPO
4952	OCRL	C3278923	Dilated ventricles (finding)	0.2	HPO
4952	OCRL	C3553764	Joint hyperflexibility	0.2	HPO
4952	OCRL	C3665347	Visual Impairment	0.2	HPO
4952	OCRL	C3805574	Increased fracture rate	0.2	HPO
4952	OCRL	C3806283	Frequent fractures	0.2	HPO
4952	OCRL	C3806443	Puffy cheeks	0.2	HPO
4952	OCRL	C4020843	Abnormal urinary amino-acid findings	0.2	HPO
4952	OCRL	C4020875	Mental and motor retardation	0.2	HPO
4952	OCRL	C4020876	Dull intelligence	0.2	HPO
4952	OCRL	C4020884	Anxiety disease	0.2	HPO
4952	OCRL	C4021776	Abnormality of the voice	0.2	HPO
4952	OCRL	C4021826	Abnormality of the renal tubule	0.2	HPO
4952	OCRL	C4022031	Abnormality of calcium-phosphate metabolism	0.2	HPO
4952	OCRL	C4024767	Dense posterior cortical cataract	0.2	HPO
4952	OCRL	C4280456	Dysplasia of tooth enamel	0.2	HPO
4952	OCRL	C4280457	Defective enamel matrix	0.2	HPO
4952	OCRL	C4280625	Decreased size of eyeball	0.2	HPO
4952	OCRL	C4280647	Hypertrophy of cheeks	0.2	HPO
4952	OCRL	C4280648	Hyperplasia of cheeks	0.2	HPO
4952	OCRL	C4280808	Abnormally small eyeball	0.2	HPO
4952	OCRL	C0001807	Aggressive behavior	0.2	HPO
4952	OCRL	C0002418	Amblyopia	0.2	HPO
4952	OCRL	C0003467	Anxiety	0.2	HPO
4952	OCRL	C0003864	Arthritis	0.2	HPO
4952	OCRL	C0007114	Malignant neoplasm of skin	0.2	HPO
4952	OCRL	C0009024	Clonus	0.2	HPO
4952	OCRL	C0009806	Constipation	0.2	HPO
4952	OCRL	C0010417	Cryptorchidism	0.2	HPO
4952	OCRL	C0011175	Dehydration	0.2	HPO
4952	OCRL	C0011351	Dental Enamel Hypoplasia	0.2	HPO
4952	OCRL	C0011581	Depressive disorder	0.2	HPO
4952	OCRL	C0014306	Enophthalmos	0.2	HPO
4952	OCRL	C0014544	Epilepsy	0.2	HPO
4952	OCRL	C0016663	Pathological fracture	0.2	HPO
4952	OCRL	C0017601	Glaucoma	0.2	HPO
4952	OCRL	C0020302	Hydrophthalmos	0.2	HPO
4952	OCRL	C0020438	Hypercalciuria	0.2	HPO
4952	OCRL	C0020443	Hypercholesterolemia	0.2	HPO
4952	OCRL	C0020502	Hyperparathyroidism	0.2	HPO
4952	OCRL	C0020621	Hypokalemia	0.2	HPO
4952	OCRL	C0020625	Hyponatremia	0.2	HPO
4952	OCRL	C0022821	Kyphosis deformity of spine	0.2	HPO
4952	OCRL	C0026010	Microphthalmos	0.2	HPO
4952	OCRL	C0028738	Nystagmus	0.2	HPO
4952	OCRL	C0028768	Obsessive-Compulsive Disorder	0.2	HPO
4952	OCRL	C0029442	Osteomalacia	0.2	HPO
4952	OCRL	C0033687	Proteinuria	0.2	HPO
4952	OCRL	C0035579	Rickets	0.2	HPO
4952	OCRL	C0036572	Seizures	0.2	HPO
4952	OCRL	C0037286	Skin Neoplasms	0.2	HPO
4952	OCRL	C0037932	Curvature of spine	0.2	HPO
4952	OCRL	C0038271	Stereotyped Behavior	0.2	HPO
4952	OCRL	C0038273	Stereotypic Movement Disorder	0.2	HPO
4952	OCRL	C0040034	Thrombocytopenia	0.2	HPO
4952	OCRL	C0042798	Low Vision	0.2	HPO
4952	OCRL	C0042870	Vitamin D Deficiency	0.2	HPO
4952	OCRL	C0085271	Self-Injurious Behavior	0.2	HPO
4952	OCRL	C0151576	Elevated creatine kinase	0.2	HPO
4952	OCRL	C0151611	Electroencephalogram abnormal	0.2	HPO
4952	OCRL	C0151811	Subcutaneous nodule	0.2	HPO
4952	OCRL	C0152031	Joint swelling	0.2	HPO
4952	OCRL	C0154936	Pupillary abnormality	0.2	HPO
4952	OCRL	C0221354	Frontal bossing	0.2	HPO
4952	OCRL	C0231246	Failure to gain weight	0.2	HPO
4952	OCRL	C0234146	Absent reflex	0.2	HPO
4952	OCRL	C0234632	Reduced visual acuity	0.2	HPO
4952	OCRL	C0237326	Dyschezia	0.2	HPO
4952	OCRL	C0238621	Aminoaciduria	0.2	HPO
4952	OCRL	C0241005	Creatine phosphokinase serum increased	0.2	HPO
4952	OCRL	C0241760	Wrist swelling	0.2	HPO
4952	OCRL	C0241772	Reflex, Deep Tendon, Absent	0.2	HPO
4952	OCRL	C0268079	Hyperphosphaturia	0.2	HPO
4952	OCRL	C0268435	Renal Tubular Acidosis, Type II	0.2	HPO
4952	OCRL	C0878681	Dent's disease	0.002747267842131	BEFREE
4952	OCRL	C0521707	Bilateral cataracts (disorder)	0.0005494535684262	BEFREE
4952	OCRL	C0812435	Chromosome 11p deletion syndrome	0.0002747267842131	BEFREE
4952	OCRL	C1136249	Mental Retardation, X-Linked	0.0002747267842131	BEFREE
4952	OCRL	C1837249	Malformations of Cortical Development, Group II	0.0002747267842131	BEFREE
4952	OCRL	C1857395	De Toni-Debre-Fanconi Syndrome	0.0002747267842131	BEFREE
4952	OCRL	C3887505	DYSFUNCTION - SKIN DISORDERS	0.0002747267842131	BEFREE
4952	OCRL	C0010709	Cyst	0.0002747267842131	BEFREE
4952	OCRL	C0014761	Erythroblastosis, Fetal	0.0002747267842131	BEFREE
4952	OCRL	C0015624	Fanconi Syndrome	0.0002747267842131	BEFREE
4952	OCRL	C0015625	Fanconi Anemia	0.0002747267842131	BEFREE
4952	OCRL	C0023860	Listeriosis	0.0002747267842131	BEFREE
4952	OCRL	C0027709	Nephrocalcinosis	0.0002747267842131	BEFREE
4952	OCRL	C0029408	Degenerative polyarthritis	0.0002747267842131	BEFREE