PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
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: C0342844
Disease: Disorder of glycoprotein metabolism
Disorder of glycoprotein metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C4021060
Disease: Hyperplastic labia majora
Hyperplastic labia majora 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4022872
Disease: Reduced thyroxin-binding globulin
Reduced thyroxin-binding globulin 		phenotype Finding 1 0.100 None 0
CUI: C4280709
Disease: Impaired neutrophil chemotaxis
Impaired neutrophil chemotaxis 		phenotype Finding 1 0.100 None 0
CUI: C4531146
Disease: Impaired antigen-specific response
Impaired antigen-specific response 		phenotype Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C1832736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 2014 2014
CUI: C4073079
Disease: Photoreceptor layer loss on macular OCT
Photoreceptor layer loss on macular OCT 		phenotype Finding 3 0.100 None 0
CUI: C1856251
Disease: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.060 None 1.000 6 1997 2017
CUI: C1837396
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 7 0.010 None 1.000 1 2000 2000
CUI: C4022605
Disease: Abnormal liver parenchyma morphology
Abnormal liver parenchyma morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 30 0.030 None 1.000 3 2001 2011
CUI: C0266368
Disease: Congenital absence of ovary
Congenital absence of ovary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C4023159
Disease: Reduced factor IX activity
Reduced factor IX activity 		phenotype Finding 5 0.100 None 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity 		phenotype Finding 7 1 0.100 None 0
CUI: C0454595
Disease: Motor speech disorder
Motor speech disorder 		disease Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		phenotype Finding 8 0.100 None 0
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 10 0.020 None 1.000 2 2 2015 2016
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 6 0.300 strong 1.000 1 2011 2011
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		phenotype Finding 9 2 0.100 None 0
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 80 0.800 None 1.000 94 80 1995 2019
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 10 37 0.010 None 1.000 1 2018 2018
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		disease Disease or Syndrome 11 0.010 None 1.000 1 2013 2013
CUI: C1859341
Disease: Olivopontocerebellar hypoplasia
Olivopontocerebellar hypoplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Finding 11 6 0.100 None 0
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 12 0.040 None 1.000 4 2002 2007
CUI: C0311276
Disease: Severe malnutrition
Severe malnutrition 		disease Disease or Syndrome 13 1 0.010 None 1.000 1 1 2017 2017