OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
0.100 Biomarker disease HPO
CUI: C0014850
Disease: Esophageal Atresia
Esophageal Atresia
0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios
0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.100 Biomarker disease HPO
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
0.100 Biomarker disease HPO
CUI: C0020649
Disease: Hypotension
Hypotension
0.100 Biomarker phenotype HPO
CUI: C0021359
Disease: Infertility
Infertility
0.100 Biomarker phenotype HPO
CUI: C0025988
Disease: Microglossia
Microglossia
0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia
0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
0.100 GeneticVariation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 GeneticVariation disease CLINVAR
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease HPO
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.100 Biomarker disease HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus
0.100 Biomarker disease HPO
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula
0.100 Biomarker disease HPO
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly
0.100 Biomarker disease HPO
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes
0.100 Biomarker phenotype HPO
CUI: C0085602
Disease: Polydipsia
Polydipsia
0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity
0.100 Biomarker phenotype HPO