MORC2, MORC family CW-type zinc finger 2, 22880

N. diseases: 83; N. variants: 10
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.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
disease Disease or Syndrome 1 6 0.700 None 1.000 8 6 2016 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.360 None 1.000 6 2 2016 2019
Hereditary Motor and Sensory-Neuropathy Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 144 0.310 None 1.000 2 1 2016 2017
Charcot-Marie-Tooth Disease, Type Ib
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 51 0.300 None 1.000 1 2017 2017
Charcot-Marie-Tooth Disease, Type Ia (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 24 0.300 None 1.000 1 2017 2017
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 5 0.300 None 1.000 1 2017 2017
Hereditary Motor and Sensory Neuropathy Type I
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 19 84 0.300 None 1.000 1 2017 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 10 1 2016 2017
CUI: C0239842
Disease: Tremor of hands
Tremor of hands
phenotype Sign or Symptom 31 7 0.100 None 0 1
CUI: C0235198
Disease: Unable to concentrate
Unable to concentrate
phenotype Mental Disorders Finding 1 1 0.100 None 0 1
CUI: C0240309
Disease: Hyperplasia of midface
Hyperplasia of midface
disease Anatomical Abnormality 4 2 0.100 None 0 1
CUI: C0241703
Disease: High pitched voice
High pitched voice
phenotype Finding 35 1 0.100 None 0
CUI: C1854408
Disease: Glabellar hemangioma
Glabellar hemangioma
disease Neoplasms Neoplastic Process 6 4 0.100 None 0 1
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases; Wounds and Injuries Disease or Syndrome 80 9 0.100 None 0 1
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 284 39 0.100 None 0 1
CUI: C0920299
Disease: Overriding toe
Overriding toe
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 47 13 0.100 None 0 1
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0 1
CUI: C0684219
Disease: Myokymia
Myokymia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 15 2 0.100 None 0
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0426415
Disease: Large nose
Large nose
phenotype Finding 70 7 0.100 None 0 1
CUI: C0401149
Disease: Chronic constipation
Chronic constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 16 0.100 None 0 1
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin
phenotype Finding 11 4 0.100 None 0 1