MTPAP, mitochondrial poly(A) polymerase, 55149

N. diseases: 104; N. variants: 2
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: C3150925
Disease: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 1 0.700 None 1.000 3 1 2010 2017
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
CUI: C4285911
Disease: C5 palsy
C5 palsy 		disease Disease or Syndrome 13 0.010 None 1.000 1 2018 2018
CUI: C4524264
Disease: Uncomplicated pyelonephritis
Uncomplicated pyelonephritis 		disease Disease or Syndrome 10 0.010 None 1.000 1 2001 2001
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		phenotype Finding 218 11 0.100 None 0
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		phenotype Finding 77 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia 		phenotype Finding 21 5 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4021898
Disease: Upper limb hypertonia
Upper limb hypertonia 		phenotype Anatomical Abnormality 6 4 0.100 None 0
CUI: C4025882
Disease: Movement abnormality of the tongue
Movement abnormality of the tongue 		phenotype Finding 2 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2017 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2019 2019
CUI: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2018 2018
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 0.010 None 1.000 1 2007 2007
CUI: C3887487
Disease: Postaxial polydactyly type A
Postaxial polydactyly type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 20 4 0.010 None 1.000 1 2001 2001
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.020 None 1.000 2 2015 2019
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 117 45 0.010 None 1.000 1 2018 2018
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 3 0.010 None 1.000 1 2017 2017
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 1993 1993
CUI: C0268353
Disease: Cutis laxa, x-linked
Cutis laxa, x-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 22 10 0.010 None 1.000 1 2017 2017
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease Digestive System Diseases Disease or Syndrome 502 80 0.020 None 1.000 2 2015 2017