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Reference - PB_REF:0000003 - Disease Association Curation

Reference summary

PubMed ID
PB_REF:0000003
Title
Disease Association Curation
Authors
PomBase curators
Abstract
PomBase curators manually curate "disease association" annotations for S. pombe genes that have human orthologs, where the ortholog is implicated in disease. Disease descriptions are manually mapped to Monarch Disease Ontology (MONDO) terms via MONDO IDs.

Annotation

Disease association

MONDO:0016001 - 2-hydroxyglutaric aciduria

Genes:

MONDO:0859237 - 3-methylglutaconic aciduria, type VIIA

Genes:

MONDO:0014561 - 3-methylglutaconic aciduria, type VIIB

Genes:

MONDO:0009299 - 46 XX gonadal dysgenesis

Genes:

MONDO:0018874 - acute myeloid leukemia

Genes:

MONDO:0017779 - alpha-N-acetylgalactosaminidase deficiency

Genes:

MONDO:0018965 - Alport syndrome

Genes:

MONDO:0015909 - aplastic anemia

Genes:

MONDO:0008814 - arginase deficiency

Genes:

MONDO:0018870 - arterial calcification of infancy

Genes:

MONDO:0017123 - arthrogryposis-renal dysfunction-cholestasis syndrome

Genes:

MONDO:0014720 - autosomal dominant optic atrophy plus syndrome

Genes:

MONDO:0000447 - autosomal dominant polycystic liver disease

Genes:

MONDO:0015244 - autosomal recessive cerebellar ataxia

Genes:

MONDO:0027353 - autosomal recessive dyskeratosis congenita 4

Genes:

MONDO:0019502 - autosomal recessive non-syndromic intellectual disability

Genes:

MONDO:0010986 - autosomal recessive nonsyndromic hearing loss 9

Genes:

MONDO:0008947 - bilateral striopallidodentate calcinosis

Genes:

MONDO:0007254 - breast cancer

Genes:

MONDO:0007265 - cardiofaciocutaneous syndrome 1

Genes:

MONDO:0015285 - Carney complex

Genes:

MONDO:0019165 - central precocious puberty

Genes:

MONDO:0010479 - Charcot-Marie-Tooth disease X-linked dominant 6

Genes:

MONDO:0008960 - Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

Genes:

MONDO:0008963 - Chediak-Higashi syndrome

Genes:

MONDO:0001751 - cholestasis

Genes:

MONDO:0000987 - cholesterolosis of gallbladder

Genes:

MONDO:0015991 - citrullinemia

Genes:

MONDO:0021055 - classic familial adenomatous polyposis

Genes:

MONDO:0016006 - Cockayne syndrome

Genes:

MONDO:0018151 - coenzyme Q10 deficiency

Genes:

MONDO:0015452 - Coffin-Siris syndrome

Genes:

MONDO:0005575 - colorectal cancer

Genes:

MONDO:0018175 - combined deficiency of factor V and factor VIII

Genes:

MONDO:0000732 - combined oxidative phosphorylation deficiency

Genes:

MONDO:0015286 - congenital disorder of glycosylation

Genes:

MONDO:0014118 - congenital neutropenia-myelofibrosis-nephromegaly syndrome

Genes:

MONDO:0006506 - congenital nonspherocytic hemolytic anemia

Genes:

MONDO:0016033 - Cornelia de Lange syndrome

Genes:

MONDO:0009067 - cystinuria

Genes:

MONDO:0015612 - Dent disease

Genes:

MONDO:0014933 - developmental and epileptic encephalopathy, 44

Genes:

MONDO:0032760 - developmental delay with or without dysmorphic facies and autism

Genes:

MONDO:0005503 - developmental disorder of mental health

Genes:

MONDO:0015253 - Diamond-Blackfan anemia

Genes:

MONDO:0006033 - diffuse intrinsic pontine glioma

Genes:

MONDO:0002412 - disorder of glycogen metabolism

Genes:

MONDO:0000351 - disorder of methionine catabolism

Genes:

MONDO:0015780 - dyskeratosis congenita

Genes:

MONDO:0859215 - dystonia, early-onset, and/or spastic paraplegia

Genes:

MONDO:0003441 - dystonic disorder

Genes:

MONDO:0020378 - early-onset posterior polar cataract

Genes:

MONDO:0020066 - Ehlers-Danlos syndrome

Genes:

MONDO:0016002 - Ehlers-Danlos syndrome, kyphoscoliotic type 1

Genes:

MONDO:0014960 - encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

Genes:

MONDO:0005027 - epilepsy

Genes:

MONDO:0005439 - familial hypercholesterolemia

Genes:

MONDO:0019006 - familial idiopathic steroid-resistant nephrotic syndrome

Genes:

MONDO:0010080 - familial infantile bilateral striatal necrosis

Genes:

MONDO:0000608 - familial juvenile hyperuricemic nephropathy

Genes:

MONDO:0019391 - Fanconi anemia

Genes:

MONDO:0015487 - fatal infantile encephalocardiomyopathy

Genes:

MONDO:0044626 - female infertility due to oocyte meiotic arrest

Genes:

MONDO:0100101 - fetal akinesia deformation sequence 1

Genes:

MONDO:0005384 - focal epilepsy

Genes:

MONDO:0005032 - follicular thyroid adenoma

Genes:

MONDO:0100339 - Friedreich ataxia

Genes:

MONDO:0005775 - G6PD deficiency

Genes:

MONDO:0009255 - galactokinase deficiency

Genes:

MONDO:0018116 - galactosemia

Genes:

MONDO:0005041 - glaucoma

Genes:

MONDO:0030995 - global developmental delay with speech and behavioral abnormalities

Genes:

MONDO:0011612 - glycine encephalopathy

Genes:

MONDO:0009290 - glycogen storage disease II

Genes:

MONDO:0009294 - glycogen storage disease VI

Genes:

MONDO:0005364 - Graves disease

Genes:

MONDO:0014805 - Hao-Fountain syndrome

Genes:

MONDO:0019588 - hearing loss, autosomal recessive

Genes:

MONDO:0009008 - heart defect - tongue hamartoma - polysyndactyly syndrome

Genes:

MONDO:0005267 - heart disorder

Genes:

MONDO:0002869 - heart valve disorder

Genes:

MONDO:0003664 - hemolytic anemia

Genes:

MONDO:0007256 - hepatocellular carcinoma

Genes:

MONDO:0018630 - hereditary nonpolyposis colon cancer

Genes:

MONDO:0011408 - hereditary spastic paraplegia 10

Genes:

MONDO:0010610 - holoprosencephaly-hypokinesia-congenital contractures syndrome

Genes:

MONDO:0004737 - homocystinuria

Genes:

MONDO:0005803 - hyperinsulinemic hypoglycemia

Genes:

MONDO:0018570 - hypophosphatasia

Genes:

MONDO:0015713 - idiopathic central precocious puberty

Genes:

MONDO:0019214 - inborn carbohydrate metabolic disorder

Genes:

MONDO:0004736 - inborn disorder of amino acid metabolism

Genes:

MONDO:0019254 - inborn disorder of purine or pyrimidine metabolism

Genes:

MONDO:0003778 - inborn error of immunity

Genes:

MONDO:0004069 - inborn mitochondrial metabolism disorder

Genes:

MONDO:0009637 - inborn mitochondrial myopathy

Genes:

MONDO:0000688 - inborn organic aciduria

Genes:

MONDO:0014659 - infantile liver failure syndrome 2

Genes:

MONDO:0017909 - inherited glutathione synthetase deficiency

Genes:

MONDO:0019142 - inherited porphyria

Genes:

MONDO:0032832 - intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

Genes:

MONDO:0001071 - intellectual disability

Genes:

MONDO:0014815 - intellectual disability, autosomal recessive 52

Genes:

MONDO:0017052 - intermediate maple syrup urine disease

Genes:

MONDO:0006040 - lactic acidosis

Genes:

MONDO:0018998 - Leber congenital amaurosis

Genes:

MONDO:0009723 - Leigh syndrome

Genes:

MONDO:0016532 - Lennox-Gastaut syndrome

Genes:

MONDO:0018875 - Li-Fraumeni syndrome

Genes:

MONDO:0008323 - Liddle syndrome

Genes:

MONDO:0006573 - lipodystrophy

Genes:

MONDO:0024477 - liver and intrahepatic bile duct neoplasm

Genes:

MONDO:0009109 - lysinuric protein intolerance

Genes:

MONDO:0019245 - lysosomal lipid storage disorder

Genes:

MONDO:0002561 - lysosomal storage disease

Genes:

MONDO:0009563 - maple syrup urine disease

Genes:

MONDO:0016814 - maternally-inherited Leigh syndrome

Genes:

MONDO:0018911 - maturity-onset diabetes of the young

Genes:

MONDO:0012251 - MEDNIK syndrome

Genes:

MONDO:0016817 - Meier-Gorlin syndrome

Genes:

MONDO:0000440 - metabolic acidosis

Genes:

MONDO:0005066 - metabolic disease

Genes:

MONDO:0018868 - metachromatic leukodystrophy

Genes:

MONDO:0001117 - methemoglobinemia

Genes:

MONDO:0001149 - microcephaly

Genes:

MONDO:0021129 - microphthalmia

Genes:

MONDO:0032626 - mitochondrial complex I deficiency, nuclear type 22

Genes:

MONDO:0100294 - mitochondrial complex II deficiency, nuclear type 1

Genes:

MONDO:0015448 - mitochondrial complex III deficiency

Genes:

MONDO:0018158 - mitochondrial DNA depletion syndrome

Genes:

MONDO:0009747 - mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Genes:

MONDO:0014471 - mitochondrial proton-transporting ATP synthase complex deficiency

Genes:

MONDO:0015967 - monogenic diabetes

Genes:

MONDO:0020128 - motor neuron disorder

Genes:

MONDO:0018938 - mucopolysaccharidosis type 4

Genes:

MONDO:0015454 - multiple carboxylase deficiency

Genes:

MONDO:0009465 - multiple intestinal atresia

Genes:

MONDO:0020121 - muscular dystrophy

Genes:

MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A

Genes:

MONDO:0000903 - myoclonus-dystonia syndrome

Genes:

MONDO:0010686 - N syndrome

Genes:

MONDO:0016391 - neonatal diabetes mellitus

Genes:

MONDO:0005071 - nervous system disorder

Genes:

MONDO:0060596 - neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Genes:

MONDO:0060704 - neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Genes:

MONDO:0024189 - neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

Genes:

MONDO:0030726 - neutropenia, severe congenital, 9, autosomal dominant

Genes:

MONDO:0001982 - Niemann-Pick disease

Genes:

MONDO:0019181 - non-syndromic X-linked intellectual disability

Genes:

MONDO:0019497 - nonsyndromic genetic hearing loss

Genes:

MONDO:0003608 - optic atrophy

Genes:

MONDO:0009393 - ornithine translocase deficiency

Genes:

MONDO:0000448 - paraganglioma

Genes:

MONDO:0005180 - Parkinson disease

Genes:

MONDO:0020341 - periventricular nodular heterotopia

Genes:

MONDO:0019053 - peroxisomal disease

Genes:

MONDO:0100263 - peroxisome biogenesis disorder due to PEX6 defect

Genes:

MONDO:0017312 - Perrault syndrome

Genes:

MONDO:0008233 - pheochromocytoma

Genes:

MONDO:0002470 - photosensitive trichothiodystrophy

Genes:

MONDO:0016396 - pontocerebellar hypoplasia type 1

Genes:

MONDO:0002474 - primary hyperoxaluria

Genes:

MONDO:0010837 - primary hyperparathyroidism

Genes:

MONDO:0005181 - progressive external ophthalmoplegia

Genes:

MONDO:0009937 - pulmonary venoocclusive disease

Genes:

MONDO:0019169 - pyruvate dehydrogenase deficiency

Genes:

MONDO:0005086 - renal cell carcinoma

Genes:

MONDO:0001909 - renal tubular acidosis

Genes:

MONDO:0019200 - retinitis pigmentosa

Genes:

MONDO:0015776 - rhizomelic chondrodysplasia punctata

Genes:

MONDO:0010002 - Rothmund-Thomson syndrome

Genes:

MONDO:0005090 - schizophrenia

Genes:

MONDO:0013498 - schizophrenia 15

Genes:

MONDO:0019342 - Seckel syndrome

Genes:

MONDO:0015974 - severe combined immunodeficiency

Genes:

MONDO:0018542 - severe congenital neutropenia

Genes:

MONDO:0600009 - severe hypophosphatasia

Genes:

MONDO:0009833 - Shwachman-Diamond syndrome

Genes:

MONDO:0010028 - sialuria

Genes:

MONDO:0010030 - Sjogren syndrome

Genes:

MONDO:0013354 - spastic ataxia 4

Genes:

MONDO:0001892 - spinal cord lymphoma

Genes:

MONDO:0016576 - split hand-foot malformation

Genes:

MONDO:0019675 - spondyloepimetaphyseal dysplasia with joint laxity

Genes:

MONDO:0008471 - spondyloepiphyseal dysplasia congenita

Genes:

MONDO:0003122 - striatonigral degeneration

Genes:

MONDO:0010774 - striatonigral degeneration, infantile, mitochondrial

Genes:

MONDO:0010408 - syndactyly-telecanthus-anogenital and renal malformations syndrome

Genes:

MONDO:0020332 - systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease

Genes:

MONDO:0100137 - telomere syndrome

Genes:

MONDO:0002049 - thrombocytopenia

Genes:

MONDO:0021548 - total early-onset cataract

Genes:

MONDO:0002457 - Treacher-Collins syndrome

Genes:

MONDO:0018053 - trichothiodystrophy

Genes:

MONDO:0001734 - tuberous sclerosis

Genes:

MONDO:0018614 - undetermined early-onset epileptic encephalopathy

Genes:

MONDO:0100144 - Uner Tan Syndrome

Genes:

MONDO:0004739 - urea cycle disorder

Genes:

MONDO:0015797 - UV-sensitive syndrome

Genes:

MONDO:0008678 - Williams syndrome

Genes:

MONDO:0010518 - Wiskott-Aldrich syndrome

Genes:

MONDO:0018315 - X-linked osteoporosis with fractures

Genes:

MONDO:0100138 - X-linked recessive mitochondrial myopathy

Genes:

MONDO:0019600 - xeroderma pigmentosum

Genes:

MONDO:0019609 - Zellweger spectrum disorders

Genes: