TSPYL1, TSPY like 1, 7259

N. diseases: 51; N. variants: 3
Source: ALL
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.
Sudden Infant Death with Dysgenesis of the Testes Syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.530 1.000 3 2004 2015
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 60 0.300 limited 3 2004 2012
CUI: C1704276
Disease: Spasmodic movement
Spasmodic movement
phenotype Sign or Symptom 122 0.100 0
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders
group Nervous System Diseases Disease or Syndrome 43 2 0.100 0
CUI: C0878787
Disease: Growth failure
Growth failure
phenotype Disease or Syndrome 211 3 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Sign or Symptom 194 0.100 0
CUI: C0600228
Disease: Cardiopulmonary Arrest
Cardiopulmonary Arrest
phenotype Cardiovascular Diseases Pathologic Function 13 0.100 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 168 1 0.100 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum
phenotype Finding 32 2 0.100 0
CUI: C0428977
Disease: Bradycardia
Bradycardia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 52 0.100 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis
disease Congenital Abnormality 13 1 0.100 0
CUI: C4476772
Disease: Staccato cry
Staccato cry
phenotype Finding 1 0.100 0
Partial development of the penile shaft
phenotype Finding 1 0.100 0
CUI: C1837380
Disease: Dysplastic testes
Dysplastic testes
phenotype Finding 1 0.100 0
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 139 4 0.100 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 37 15 0.100 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male
phenotype Finding 9 0.100 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
phenotype Finding 56 0.100 0
Abnormality of metabolism/homeostasis
group Finding 154 4 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
CUI: C1858430
Disease: Death in infancy
Death in infancy
phenotype Finding 102 0.100 0
CUI: C1854302
Disease: Involuntary jerking movements
Involuntary jerking movements
phenotype Finding 122 0.100 0
CUI: C1844947
Disease: Death in early childhood
Death in early childhood
phenotype Finding 103 1 0.100 0
CUI: C1837385
Disease: Poor growth
Poor growth
phenotype Finding 167 0.100 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
disease Congenital Abnormality 284 5 0.100 0