ATP6V1A, ATPase H+ transporting V1 subunit A, 523

N. diseases: 147; N. variants: 7
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: C3665335
Disease: Cutis laxa, autosomal recessive
Cutis laxa, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 17 1 0.010 None 1.000 1 2017 2017
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2017 2017
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2017 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 3 2018 2018
CUI: C0019655
Disease: Histoplasmosis
Histoplasmosis 		disease Infections Disease or Syndrome 16 0.010 None 1.000 1 2008 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2019 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2009 2009
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0 1
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		phenotype Finding 30 17 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 1
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair 		phenotype Finding 112 9 0.100 None 0
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 77 12 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		phenotype Finding 71 10 0.100 None 0 1
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype Finding 16 3 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 48 9 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0 1
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0