MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
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: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 862 115 0.100 None 0
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0014474
Disease: Ependymoma
Ependymoma
disease Neoplasms Neoplastic Process 244 8 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Digestive System Diseases Finding 175 3 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0
CUI: C1834728
Disease: Malignant genitourinary tract tumor
Malignant genitourinary tract tumor
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 3 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0234144
Disease: Dysgraphia
Dysgraphia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 2 0.100 None 0
Fibrous skin tumor of tuberous sclerosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 20 2 0.100 None 0
CUI: C0278804
Disease: Adenocarcinoma of duodenum
Adenocarcinoma of duodenum
disease Digestive System Diseases; Neoplasms Neoplastic Process 14 1 0.100 None 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.100 None 0 2
CUI: C0497538
Disease: Benign digestive system neoplasms
Benign digestive system neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 2 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE
phenotype Finding 299 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0
phenotype Finding 108 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0