SMS, spermine synthase, 6611

N. diseases: 263; N. variants: 9
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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0.983 58 2017 2020
CUI: C0796160
Disease: MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 8 0.800 definitive 1.000 25 8 1969 2019
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.100 None 1.000 14 2016 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.100 None 1.000 14 2016 2020
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.100 None 1.000 11 2017 2019
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 104 12 0.080 None 1.000 8 1999 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.070 None 1.000 7 1994 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.070 None 1.000 7 2017 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.070 None 1.000 7 1994 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.070 None 1.000 7 1994 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.050 None 1.000 5 2017 2020
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 91 16 0.050 None 1.000 5 2018 2020
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 163 23 0.040 None 1.000 4 2017 2020
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.040 None 0.750 4 2017 2019
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 0.040 None 1.000 4 2017 2019
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease Anatomical Abnormality 58 2 0.040 None 1.000 4 2018 2019
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.040 None 1.000 4 2016 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.320 None 1.000 3 1998 2017
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.030 None 1.000 3 2010 2013
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.030 None 1.000 3 2016 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.030 None 1.000 3 2017 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.030 None 1.000 3 2017 2020
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.030 None 1.000 3 2011 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.030 None 1.000 3 2017 2019
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 47 8 0.130 None 0.667 3 1 2005 2018