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: C4693934
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 		disease Disease or Syndrome 1 5 0.600 strong 1.000 2 5 2017 2018
CUI: C0268355
Disease: Cutis Laxa, Autosomal Recessive, Type IIA
Cutis Laxa, Autosomal Recessive, Type IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 10 0.300 None 1.000 1 2017 2017
CUI: C4479387
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 		disease Disease or Syndrome 3 2 0.300 None 1.000 1 2017 2017
CUI: C4479409
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 		disease Disease or Syndrome 3 2 0.700 strong 1.000 1 2 2017 2017
CUI: C2037047
Disease: Subretinal pigment epithelium hemorrhage
Subretinal pigment epithelium hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 3 0.100 None 0
CUI: C4476649
Disease: Abnormal apolipoprotein level
Abnormal apolipoprotein level 		phenotype Finding 3 0.100 None 0
CUI: C4023610
Disease: Abnormality of the intrinsic pathway
Abnormality of the intrinsic pathway 		phenotype Hemic and Lymphatic Diseases Anatomical Abnormality 4 0.100 None 0
CUI: C4024871
Disease: Prominent veins on trunk
Prominent veins on trunk 		phenotype Finding 4 0.100 None 0
CUI: C4024970
Disease: Thick cerebral cortex
Thick cerebral cortex 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4476632
Disease: Fragmented elastic fibers in the dermis
Fragmented elastic fibers in the dermis 		phenotype Finding 4 0.100 None 0
CUI: C1866487
Disease: Prominent nasolabial fold
Prominent nasolabial fold 		phenotype Finding 6 0.100 None 0
CUI: C1859347
Disease: Abnormal subcutaneous fat tissue distribution
Abnormal subcutaneous fat tissue distribution 		phenotype Finding 9 2 0.100 None 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0
CUI: C1849025
Disease: Oval face
Oval face 		phenotype Finding 14 4 0.100 None 0 1
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
Abnormal isoelectric focusing of serum transferrin 		phenotype Finding 15 10 0.100 None 0
CUI: C0019655
Disease: Histoplasmosis
Histoplasmosis 		disease Infections Disease or Syndrome 16 0.010 None 1.000 1 2008 2008
CUI: C1840319
Disease: Redundant neck skin
Redundant neck skin 		phenotype Finding 16 3 0.100 None 0
CUI: C4073184
Disease: Thick hair
Thick hair 		phenotype Finding 16 3 0.100 None 0
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: C0014390
Disease: Entropion
Entropion 		disease Eye Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		phenotype Finding 19 13 0.100 None 0 1
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		phenotype Finding 21 2 0.100 None 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		phenotype Anatomical Abnormality 25 0.100 None 0
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		phenotype Finding 27 21 0.100 None 0 1
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature 		phenotype Finding 30 17 0.100 None 0