CISD2, CDGSH iron sulfur domain 2, 493856

N. diseases: 106; N. variants: 4
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.
Other specified diabetes mellitus with unspecified complications
disease Endocrine System Diseases Disease or Syndrome 2 0.200 None 1.000 1 2009 2009
Impaired collagen-induced platelet aggregation
phenotype Finding 2 0.100 None 0
CUI: C4293672
Disease: Abnormality of mesentery morphology
Abnormality of mesentery morphology
phenotype Anatomical Abnormality 3 0.100 None 0
Thiamine-responsive megaloblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 2 0.900 None 1.000 14 1 2007 2019
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 0.030 None 1.000 3 2012 2018
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 9 36 0.010 None 1.000 1 2012 2012
CUI: C0151971
Disease: Primary ulcer of intestine
Primary ulcer of intestine
disease Digestive System Diseases Disease or Syndrome 13 0.020 None 1.000 2 2018 2018
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.010 None 1.000 1 2012 2012
CUI: C0013428
Disease: Dysuria
Dysuria
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 3 0.100 None 0
CUI: C0043207
Disease: Wolfram Syndrome
Wolfram Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 7 0.600 strong 1.000 15 2001 2020
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 43 9 0.100 None 0
CUI: C0280232
Disease: stage, cervical cancer
stage, cervical cancer
phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 48 0.010 None 1.000 1 2014 2014
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism
disease Endocrine System Diseases Disease or Syndrome 50 1 0.100 None 0
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.140 None 1.000 4 2012 2018
CUI: C0085602
Disease: Polydipsia
Polydipsia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.100 None 0
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration
disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.020 None 1.000 2 2009 2009
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency
phenotype Hemic and Lymphatic Diseases Pathologic Function 71 14 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5 0.050 None 0.800 5 2009 2019