PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
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: C1150715
Disease: biotin-[acetyl-CoA-carboxylase] ligase activity
biotin-[acetyl-CoA-carboxylase] ligase activity 		phenotype Molecular Function 1 0.300 limited 1.000 1 2014 2014
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		disease Disease or Syndrome 2 9 0.430 None 0.750 4 9 2011 2018
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		disease Disease or Syndrome 2 0.300 None 1.000 1 2013 2013
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		disease Disease or Syndrome 4 0.300 None 1.000 1 2001 2001
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 0.680 None 0.917 12 2006 2019
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 11 0.020 None 1.000 2 2011 2012
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		disease Disease or Syndrome 12 0.300 None 1.000 1 2016 2016
CUI: C0751883
Disease: Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndromes, Postsynaptic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 0.300 None 0
CUI: C0751885
Disease: Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndromes, Congenital, Slow Channel 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 18 1 0.300 None 0
CUI: C0751884
Disease: Congenital Myasthenic Syndromes, Presynaptic
Congenital Myasthenic Syndromes, Presynaptic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 0.300 None 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		phenotype Finding 21 4 0.100 None 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 22 83 0.110 None 1.000 7 12 1995 2017
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.020 None 1.000 2 2011 2012
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 37 1 0.300 None 1.000 1 2016 2016
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 41 3 0.010 None 1.000 1 2014 2014
CUI: C0751882
Disease: Myasthenic Syndromes, Congenital
Myasthenic Syndromes, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 57 40 0.300 None 0
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 3 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		phenotype Finding 83 17 0.100 None 0
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype Finding 93 3 0.100 None 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 94 13 0.100 None 0
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 0
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.100 None 0