SPR, sepiapterin reductase, 6697

N. diseases: 90; N. variants: 12
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: C0751435
Disease: Hyperphenylalaninaemia
Hyperphenylalaninaemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 30 38 0.030 None 0.667 3 2001 2007
CUI: C0031485
Disease: Phenylketonurias
Phenylketonurias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 83 46 0.020 None < 0.001 2 2001 2001
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2419 231 0.020 None 1.000 2 2015 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.020 None 1.000 2 2015 2019
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 408 4 0.020 None 1.000 2 2019 2020
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 1.000 2 2019 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		disease Neoplasms Neoplastic Process 2509 386 0.020 None 1.000 2 2015 2019
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.020 None 1.000 2 2020 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2015 2015
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2019 2019
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 42 385 0.010 None < 0.001 1 2001 2001
CUI: C1855119
Disease: Methylmalonic aciduria
Methylmalonic aciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 33 4 0.010 None < 0.001 1 2006 2006
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.010 None 1.000 1 2012 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2018 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2020 2020
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2017 2017
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2020 2020
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.010 None 1.000 1 2020 2020
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 2018 2018
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease 		disease Nervous System Diseases Disease or Syndrome 179 65 0.010 None 1.000 1 2006 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2010 2010
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 205 16 0.010 None 1.000 1 2018 2018
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2006 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2019 2019