MARVELD2, MARVEL domain containing 2, 153562

N. diseases: 26; N. variants: 4
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: C1857811
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 49
DEAFNESS, AUTOSOMAL RECESSIVE 49
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 3 0.810 None 1.000 5 3 2006 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.420 strong 1.000 2 1 2008 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.340 definitive 1.000 9 2005 2016
Sensorineural hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.200 None 1.000 2 2013 2015
Prelingual sensorineural hearing impairment
disease Disease or Syndrome 17 7 0.100 None 0
DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
disease Finding 1 1 0.100 None 0 1
CUI: C0011053
Disease: Deafness
Deafness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.100 None 0 1
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2010 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 86 163 0.010 None 1.000 1 2012 2012
CUI: C0848332
Disease: Spots on skin
Spots on skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 43 0.010 None 1.000 1 2012 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
disease Neoplasms Neoplastic Process 1740 140 0.010 None 1.000 1 2018 2018
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2011 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2005 2005
CUI: C0280317
Disease: Squamous cell carcinoma of tonsil
Squamous cell carcinoma of tonsil
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 30 0.010 None 1.000 1 2011 2011
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.010 None 1.000 1 2012 2012
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma
disease Skin and Connective Tissue Diseases Disease or Syndrome 135 1 0.010 None 1.000 1 2015 2015
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.010 None 1.000 1 2018 2018
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2018 2018
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.010 None 1.000 1 2018 2018
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 484 34 0.010 None 1.000 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2011 2011
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
disease Digestive System Diseases Disease or Syndrome 379 56 0.010 None 1.000 1 2019 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2011 2011
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma
disease Neoplasms Neoplastic Process 65 0.010 None 1.000 1 2012 2012