GRM1, glutamate metabotropic receptor 1, 2911

N. diseases: 172; N. variants: 11
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: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0850703
Disease: Frequent falls
Frequent falls
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 94 4 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades
phenotype Finding 7 0.100 None 0
CUI: C0423082
Disease: Hypometric saccades
Hypometric saccades
phenotype Finding 13 4 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C1845370
Disease: Retrocerebellar cyst
Retrocerebellar cyst
phenotype Finding 4 0.100 None 0
CUI: C0752122
Disease: Spinocerebellar Ataxia Type 4
Spinocerebellar Ataxia Type 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 36 0.300 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C0752123
Disease: Spinocerebellar Ataxia Type 5
Spinocerebellar Ataxia Type 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 7 0.300 None 0
Spinocerebellar Ataxia Type 6 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.300 None 0
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.300 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 49 7 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0