TSPYL1, TSPY like 1, 7259

N. diseases: 42; 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.
CUI: C1837371
Disease: Sudden Infant Death with Dysgenesis of the Testes Syndrome
Sudden Infant Death with Dysgenesis of the Testes Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.630 moderate 1.000 4 2004 2015
CUI: C4324573
Disease: OAT syndrome
OAT syndrome 		disease Disease or Syndrome 1 2 0.010 None 1.000 1 2 2012 2012
CUI: C1837379
Disease: Partial development of the penile shaft
Partial development of the penile shaft 		phenotype Finding 1 0.100 None 0
CUI: C1837380
Disease: Dysplastic testes
Dysplastic testes 		phenotype Finding 1 0.100 None 0
CUI: C4476772
Disease: Staccato cry
Staccato cry 		phenotype Finding 1 0.100 None 0
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 13 2 0.100 None 0
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Finding 13 1 0.100 None 0
CUI: C0600228
Disease: Cardiopulmonary Arrest
Cardiopulmonary Arrest 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 7 0.100 None 0
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		disease Respiratory Tract Diseases Disease or Syndrome 29 0.100 None 0
CUI: C0038450
Disease: Stridor
Stridor 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 31 7 0.100 None 0
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 2006 2006
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 39 6 0.010 None 1.000 1 2009 2009
CUI: C0023066
Disease: Laryngospasm
Laryngospasm 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 48 0.100 None 0
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		phenotype Pathological Conditions, Signs and Symptoms Finding 52 3 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		phenotype Congenital Abnormality 57 3 0.100 None 0
CUI: C0428977
Disease: Bradycardia
Bradycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		disease Finding 64 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 140 68 0.020 None 1.000 2 2006 2015
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype Finding 146 7 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0