MKRN3, makorin ring finger protein 3, 7681

N. diseases: 92; N. variants: 13
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: C3809199
Disease: PRECOCIOUS PUBERTY, CENTRAL, 2
PRECOCIOUS PUBERTY, CENTRAL, 2 		disease Disease or Syndrome 1 7 0.400 None 1.000 5 7 2013 2014
CUI: C1812609
Disease: Variola major
Variola major 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C0425772
Disease: Premature development of the breasts
Premature development of the breasts 		phenotype Endocrine System Diseases Finding 7 0.100 None 0
CUI: C0848255
Disease: female puberty
female puberty 		phenotype Sign or Symptom 9 0.020 None 1.000 2 2018 2019
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0342544
Disease: Idiopathic central precocious puberty
Idiopathic central precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 13 5 0.360 None 1.000 7 1 2013 2018
CUI: C0271527
Disease: Cryptogenic sexual precocity
Cryptogenic sexual precocity 		phenotype Endocrine System Diseases Disease or Syndrome 13 2 0.320 None 1.000 3 2013 2015
CUI: C1386091
Disease: Acromicria
Acromicria 		disease Congenital Abnormality 13 0.100 None 0
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.300 None 1.000 1 2013 2013
CUI: C1857632
Disease: Narrow palm
Narrow palm 		phenotype Finding 17 0.100 None 0
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.100 None 0
CUI: C0311277
Disease: Obesity, Abdominal
Obesity, Abdominal 		phenotype Nutritional and Metabolic Diseases Finding 21 0.100 None 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment 		phenotype Finding 22 2 0.100 None 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation 		phenotype Skin and Connective Tissue Diseases Finding 23 1 0.100 None 0
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 134 0.010 None 1.000 1 2018 2018
CUI: C3203358
Disease: Hypoventilation
Hypoventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Pathologic Function 28 2 0.100 None 0
CUI: C0342541
Disease: Precocious pubarche
Precocious pubarche 		disease Endocrine System Diseases Disease or Syndrome 30 11 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		phenotype Finding 30 0.100 None 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		phenotype Finding 30 1 0.100 None 0
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 32 2 0.400 None 1.000 21 2013 2019
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 37 1 0.100 None 0
CUI: C0037354
Disease: Smallpox
Smallpox 		disease Infections Disease or Syndrome 39 0.010 None 1.000 1 1999 1999
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		phenotype Finding 40 1 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		phenotype Finding 41 4 0.100 None 0
CUI: C4551564
Disease: Narrow nasal bridge
Narrow nasal bridge 		phenotype Finding 47 2 0.100 None 0