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: 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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.400 None 1.000 15 1989 2015
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
Idiopathic central precocious puberty
disease Endocrine System Diseases Disease or Syndrome 13 5 0.360 None 1.000 7 1 2013 2018
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 139 20 0.340 None 1.000 5 3 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: C1504412
Disease: Testotoxicosis
Testotoxicosis
disease Endocrine System Diseases Disease or Syndrome 14 10 0.300 None 1.000 1 2013 2013
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0 1
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.100 None 0.944 18 2014 2019
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
disease Finding 149 527 0.100 None 1.000 1 1 2019 2019
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C0376705
Disease: Viral Load result
Viral Load result
phenotype Finding 65 91 0.100 None 1.000 1 1 2019 2019
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO
phenotype Finding 147 526 0.100 None 1.000 1 1 2019 2019
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 41 4 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 65 12 0.100 None 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
disease Musculoskeletal Diseases Anatomical Abnormality 117 5 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis
disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1386091
Disease: Acromicria
Acromicria
disease Congenital Abnormality 13 0.100 None 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0