NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Source: INFERRED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 269 0.100 None 0 2
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 0.100 None 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 17 0.100 None 0 1
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 253 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 407 0.100 None 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype Pathologic Function 41 0.100 None 0 1
CUI: C1384670
Disease: Single umbilical artery
Single umbilical artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 27 0.100 None 0 1
CUI: C1301937
Disease: Talipes
Talipes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 72 0.100 None 0
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Finding 53 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 0.100 None 0 1
CUI: C1849510
Disease: Prenatal movement abnormality
Prenatal movement abnormality 		phenotype Finding 11 0.100 None 0
CUI: C1849311
Disease: Short 1st metacarpal
Short 1st metacarpal 		phenotype Finding 18 0.100 None 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 0.100 None 0
CUI: C1849164
Disease: Long, smooth philtrum
Long, smooth philtrum 		phenotype Finding 1 0.100 None 0 1
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 0.100 None 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 0.100 None 0 1
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 344 0.100 None 0
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 167 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 241 0.100 None 0 1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 556 0.100 None 0