GlyCosmos Portal

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Displaying entries **2376 - 2400** of **18496** in total

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UniProt ID	Protein Name ▼	Gene Symbol	Organism	No. of Glycosylation Sites	No. of GlyTouCan IDs	Disease Ontology
P14410	Sucrase-isomaltase, intestinal	SI	Homo sapiens (human)	18	3	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Barrett's esophagus Clostridium difficile colitis Duchenne muscular dystrophy Fabry disease Gaucher's disease Gerstmann-Straussler-Scheinker syndrome Gorham's disease Japanese encephalitis Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome Richter's syndrome adenocarcinoma adenoma amyotrophic lateral sclerosis arteriosclerotic cardiovascular disease atherosclerosis autosomal dominant Emery-Dreifuss muscular dystrophy 2 autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 2 autosomal dominant limb-girdle muscular dystrophy type 3 autosomal dominant limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy type 2A autosomal recessive limb-girdle muscular dystrophy type 2B autosomal recessive limb-girdle muscular dystrophy type 2C autosomal recessive limb-girdle muscular dystrophy type 2D autosomal recessive limb-girdle muscular dystrophy type 2E autosomal recessive limb-girdle muscular dystrophy type 2F autosomal recessive limb-girdle muscular dystrophy type 2G autosomal recessive limb-girdle muscular dystrophy type 2H autosomal recessive limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy type 2J autosomal recessive limb-girdle muscular dystrophy type 2K autosomal recessive limb-girdle muscular dystrophy type 2L autosomal recessive limb-girdle muscular dystrophy type 2M autosomal recessive limb-girdle muscular dystrophy type 2N autosomal recessive limb-girdle muscular dystrophy type 2O autosomal recessive limb-girdle muscular dystrophy type 2P autosomal recessive limb-girdle muscular dystrophy type 2Q autosomal recessive limb-girdle muscular dystrophy type 2S autosomal recessive limb-girdle muscular dystrophy type 2T autosomal recessive limb-girdle muscular dystrophy type 2U autosomal recessive limb-girdle muscular dystrophy type 2Y autosomal recessive limb-girdle muscular dystrophy brachydactyly type C brachydactyly cancer cardiomyopathy cardiovascular system disease cerebral degeneration chronic lymphocytic leukemia chylomicron retention disease colitis colorectal cancer colorectal carcinoma congenital disorder of glycosylation congenital muscular dystrophy coronary artery disease cribriform carcinoma cystic fibrosis cystinuria dengue disease depressive disorder diabetes mellitus diabetic ketoacidosis diarrhea disease of metabolism distal myopathy embryoma endomyocardial fibrosis facioscapulohumeral muscular dystrophy familial hypertrophic cardiomyopathy familial periodic paralysis galactosemia gastric cardia adenocarcinoma gastroenteritis gastrointestinal system disease glucose intolerance glucosephosphate dehydrogenase deficiency glycogen storage disease II glycogen storage disease IXa glycogen storage disease IXb glycogen storage disease IXc glycogen storage disease IXd glycogen storage disease Ia glycogen storage disease granular cell carcinoma heart disease hyperglycemia hypertrophic cardiomyopathy hypoglycemia ileitis ileocolitis intestinal disease irritable bowel syndrome kwashiorkor lactose intolerance large intestine cancer limb-girdle muscular dystrophy lipid storage disease lysosomal storage disease major depressive disorder marasmus melancholic depression muscular dystrophy myofibrillar myopathy 1 myofibrillar myopathy 3 myopathy myotonic dystrophy type 1 myotonic dystrophy type 2 nephrolithiasis neurocirculatory asthenia neurodegenerative disease nutmeg liver nutrition disease obesity obsolete autosomal dominant limb-girdle muscular dystrophy type 1A obsolete autosomal dominant limb-girdle muscular dystrophy type 1B obsolete autosomal dominant limb-girdle muscular dystrophy type 1C obsolete autosomal recessive limb-girdle muscular dystrophy type 2R obsolete melancholia oculopharyngeal muscular dystrophy peptic ulcer disease prediabetes syndrome progressive muscular atrophy prolactinoma protein-energy malnutrition punctate palmoplantar keratoderma type III rippling muscle disease 2 sudden infant death syndrome tropical sprue tubular adenocarcinoma type 2 diabetes mellitus uric acid nephrolithiasis viral infectious disease yellow fever
Q9BYC2	Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial	OXCT2	Homo sapiens (human)	1	1
P55809	Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial	OXCT1 OXCT SCOT	Homo sapiens (human)	0	1	arteriosclerotic cardiovascular disease atherosclerosis beta-ketothiolase deficiency cancer central nervous system cancer coronary artery disease diabetes mellitus embryoma gliosarcoma hepatocellular carcinoma high grade glioma liver cancer localized scleroderma mixed glioma nutmeg liver obesity osteoporosis phenylketonuria reflex sympathetic dystrophy scleroderma sickle cell anemia systemic scleroderma type 2 diabetes mellitus
P51649	Succinate-semialdehyde dehydrogenase, mitochondrial	ALDH5A1 SSADH	Homo sapiens (human)	0	1	Crohn's colitis Crohn's disease Rett syndrome X-linked dystonia-parkinsonism Zika fever age related macular degeneration agnosia anxiety disorder autistic disorder carcinoma degeneration of macula and posterior pole developmental coordination disorder dystonia 12 dystonia 16 dystonia 21 dystonia 25 dystonia 27 dystonia 5 dystonia epilepsy focal dystonia focal hand dystonia generalized anxiety disorder generalized dystonia generalized epilepsy with febrile seizures plus hypertropia idiopathic generalized epilepsy inflammatory bowel disease 1 inflammatory bowel disease intellectual disability juvenile myoclonic epilepsy learning disability lingual-facial-buccal dyskinesia macular degeneration mechanical strabismus movement disease myoclonic dystonia 11 ophthalmoplegia ovarian cancer ovarian carcinoma psychotic disorder schizoaffective disorder schizophreniform disorder status epilepticus strabismus succinic semialdehyde dehydrogenase deficiency syndromic X-linked intellectual disability 94 torsion dystonia 13 torsion dystonia 17 torsion dystonia 1 torsion dystonia 2 torsion dystonia 4 torsion dystonia 6 torsion dystonia with onset in infancy tuberculosis ulcerative colitis visual epilepsy
Q9HAC7	Succinate--hydroxymethylglutarate CoA-transferase	SUGCT C7orf10 DERP13	Homo sapiens (human)	0	1
Q96I99	Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial	SUCLG2	Homo sapiens (human)	0	1	Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Pick's disease Reye syndrome cerebral degeneration endometriosis of ovary endometriosis methylmalonic acidemia prostate cancer prostate carcinoma
P53597	Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial	SUCLG1	Homo sapiens (human)	1	1	Leigh disease McCune Albright syndrome brain disease cardiomyopathy central nervous system cancer cerebral degeneration endomyocardial fibrosis epilepsy familial hypertrophic cardiomyopathy giant cell glioblastoma glioblastoma gliosarcoma high grade glioma hypertrophic cardiomyopathy hypoglycemia hypophosphatemia intellectual disability lactic acidosis learning disability methylmalonic acidemia mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy mixed glioma skin disease stomach cancer stomach carcinoma syndromic X-linked intellectual disability 94 visual epilepsy
Q9P2R7	Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial	SUCLA2	Homo sapiens (human)	0	1	3-methylglutaconic aciduria type 4 Alzheimer's disease 10 Alzheimer's disease 11 Alzheimer's disease 12 Alzheimer's disease 13 Alzheimer's disease 14 Alzheimer's disease 15 Alzheimer's disease 1 Alzheimer's disease 2 Alzheimer's disease 3 Alzheimer's disease 5 Alzheimer's disease 6 Alzheimer's disease 7 Alzheimer's disease 8 Alzheimer's disease Creutzfeldt-Jakob disease Crohn's colitis Crohn's disease Down syndrome Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Laron syndrome Leigh disease Lewy body dementia Parkinson's disease 19A Parkinson's disease 23 Parkinson's disease 4 Parkinson's disease Pick's disease Reye syndrome achondroplasia age related macular degeneration alternating hemiplegia of childhood amnestic disorder amyloidosis arteriolosclerosis arteriosclerosis arteriosclerotic cardiovascular disease atherosclerosis autonomic neuropathy blindness central nervous system disease cerebral degeneration congenital ptosis congestive heart failure coronary artery disease cutaneous porphyria degeneration of macula and posterior pole dementia depressive disorder diabetes mellitus diabetic ketoacidosis dissociative amnesia dysthymic disorder dystonia enterocele epilepsy erythropoietic protoporphyria familial retinoblastoma focal hand dystonia frontotemporal dementia generalized dystonia herpes simplex hydrocephalus hypertropia inflammatory bowel disease 1 inflammatory bowel disease isolated elevated serum creatine phosphokinase levels lactic acidosis leukopenia lingual-facial-buccal dyskinesia macular degeneration major depressive disorder mechanical strabismus melancholic depression methylmalonic acidemia microcephaly mitochondrial DNA depletion syndrome 5 mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome mitochondrial encephalomyopathy movement disease nervous system disease neuroblastoma neurodegenerative disease neuropathy neurotic disorder obesity obsolete melancholia ophthalmoplegia parasitic helminthiasis infectious disease peripheral nervous system disease ptosis retinoblastoma retrocochlear disease retrograde amnesia sensorineural hearing loss sideroblastic anemia 1 strabismus trichohepatoenteric syndrome 1 trichohepatoenteric syndrome trilateral retinoblastoma tuberculosis type 2 diabetes mellitus ulcerative colitis vascular dementia visual epilepsy
Q9BXA5	Succinate receptor 1	SUCNR1 GPR91	Homo sapiens (human)	2	0
Q9NX18	Succinate dehydrogenase assembly factor 2, mitochondrial	SDHAF2 C11orf79 PGL2 SDH5	Homo sapiens (human)	1	1
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	SDHB SDH SDH1	Homo sapiens (human)	1	1	Alzheimer's disease Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Clouston syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Leigh disease MELAS syndrome Marfan syndrome Peutz-Jeghers syndrome Richter's syndrome achondroplasia acoustic neuroma adenocarcinoma adenoma adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenal gland disease adrenocortical carcinoma adult oligodendroglioma agnosia anemia angioedema angiomatous meningioma angiomyoma aniridia autistic disorder benign breast phyllodes tumor benign meningioma bilateral breast cancer bladder carcinoma blindness breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cataract 4 multiple types cataract central nervous system cancer cerebral convexity meningioma childhood kidney cell carcinoma childhood oligodendroglioma chondroma chromophobe renal cell carcinoma chronic lymphocytic leukemia chronic obstructive pulmonary disease clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm colorectal cancer colorectal carcinoma cone-rod dystrophy congenital adrenal hyperplasia congenital nystagmus congestive heart failure cranial nerve disease cranial nerve palsy cribriform carcinoma cutaneous fibrous histiocytoma dementia developmental coordination disorder diabetic cataract diabetic retinopathy dilated cardiomyopathy 1A dilated cardiomyopathy dissociated nystagmus duodenum cancer embryoma endocrine gland cancer endometrial cancer endometrial carcinoma endomyocardial fibrosis epithelioid sarcoma esophageal cancer esophageal carcinoma essential hypertension exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue fundus albipunctatus gastrointestinal stromal tumor geographic tongue glomangioma glomerulonephritis glomus tumor goiter granular cell carcinoma gynecomastia head and neck cancer heart cancer hemangioblastoma hemangioma hepatocellular carcinoma hidradenoma high grade glioma hypercalcemia hyperparathyroidism hypertension hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus in situ carcinoma infant gynecomastia insulinoma intellectual disability intestinal obstruction intracranial hypertension intraorbital meningioma intraventricular meningioma islet cell tumor kidney cancer kidney disease kwashiorkor large intestine cancer learning disability leiomyoma leukodystrophy lipoma liver cancer macrocytic anemia malignant pheochromocytoma marasmus melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy mixed oligodendroglioma-astrocytoma multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myofibrillar myopathy 1 myofibroma myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibroma neurofibromatosis 1 neurofibromatosis nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter nutrition disease obsolete constipation olfactory groove meningioma oligodendroglioma ophthalmoplegia osteitis fibrosa oxyphilic adenoma palmoplantar keratosis pancreatic adenocarcinoma panic disorder papillary adenocarcinoma papillary renal cell carcinoma papilloma paraganglioma parasagittal meningioma pathologic nystagmus peripheral nervous system neoplasm pheochromocytoma phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 prolactinoma protein-energy malnutrition proteinuria psammomatous meningioma pseudotumor cerebri renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma scoliosis secretory meningioma sensorineural hearing loss situs inversus skin benign neoplasm skin cancer skin melanoma skin papilloma skin tag small intestine benign neoplasm small intestine cancer spinal meningioma spindle cell sarcoma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma thyroid gland papillary carcinoma transitional meningioma tuberous sclerosis 1 tuberous sclerosis tubular adenocarcinoma urinary bladder cancer urticaria uterine corpus cancer uterine fibroid vesicoureteral reflux von Hippel-Lindau disease
P31040	Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial	SDHA SDH2 SDHF	Homo sapiens (human)	2	1	Laron syndrome Leigh disease Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy achondroplasia adrenal gland cancer agnosia anaplastic astrocytoma anemia aniridia arthritis arthropathy ataxia with oculomotor apraxia type 1 attention deficit hyperactivity disorder benign breast phyllodes tumor blepharospasm blindness bone osteosarcoma brain disease breast cancer breast carcinoma breast malignant phyllodes tumor cancer cardiomyopathy cervical adenocarcinoma cervical cancer cervix carcinoma childhood astrocytic tumor childhood cerebral astrocytoma childhood osteosarcoma chromophobe renal cell carcinoma clear cell renal cell carcinoma collecting duct carcinoma colon cancer colonic benign neoplasm cone-rod dystrophy congenital diaphragmatic hernia congenital generalized lipodystrophy type 1 congenital generalized lipodystrophy type 2 congenital generalized lipodystrophy type 3 congenital generalized lipodystrophy type 4 congenital nystagmus congenital ptosis congestive heart failure dementia developmental coordination disorder diabetes mellitus dilated cardiomyopathy 1A dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy dissociated nystagmus duodenum cancer dystonia early myoclonic encephalopathy embryoma endomyocardial fibrosis epilepsy epithelioid sarcoma esophageal cancer esophageal carcinoma exanthem familial adenomatous polyposis familial hypertrophic cardiomyopathy familial periodic paralysis fibrillary astrocytoma focal hand dystonia fundus albipunctatus gastric adenocarcinoma gastrointestinal stromal tumor gemistocytic astrocytoma giant cell glioblastoma glioblastoma glomerulonephritis heart cancer hepatocellular carcinoma high grade glioma hypercalcemia hypertensive retinopathy hypertrichosis hypertrophic cardiomyopathy hypertropia ileus insulinoma intellectual disability intestinal obstruction islet cell tumor isolated elevated serum creatine phosphokinase levels juvenile pilocytic astrocytoma kidney disease lactic acidosis learning disability left ventricular noncompaction leukodystrophy lipoatrophic diabetes mellitus lipodystrophy liver cancer lung cancer lung non-small cell carcinoma macrocytic anemia malignant astrocytoma mechanical strabismus melanoma mitochondrial complex II deficiency mitochondrial metabolism disease mitochondrial myopathy multiple endocrine neoplasia type 1 myopathy nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuropathy nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma obsolete constipation ophthalmoplegia optic atrophy 1 optic atrophy osteoarthritis osteosarcoma oxyphilic adenoma palmoplantar keratosis panic disorder papillary renal cell carcinoma paraganglioma parathyroid adenoma parathyroid carcinoma pathologic nystagmus peripheral nervous system disease pheochromocytoma phosphorus metabolism disease pilocytic astrocytoma placental insufficiency prolactinoma proteinuria protoplasmic astrocytoma ptosis rectal benign neoplasm rectum cancer renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa sarcoma sarcomatoid renal cell carcinoma schizophrenia sensorineural hearing loss skin melanoma small intestine benign neoplasm small intestine cancer spindle cell sarcoma spontaneous ocular nystagmus stomach cancer strabismus subependymal giant cell astrocytoma syndromic X-linked intellectual disability 94 type 2 diabetes mellitus ventricular septal defect vesicoureteral reflux visual epilepsy
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	SDHD SDH4	Homo sapiens (human)	0	1	Bannayan-Riley-Ruvalcaba syndrome Carney-Stratakis syndrome Coffin-Siris syndrome 1 Coffin-Siris syndrome Cowden syndrome Laron syndrome Peutz-Jeghers syndrome Stevens-Johnson syndrome Unverricht-Lundborg syndrome X-linked dilated cardiomyopathy achondroplasia acoustic neuroma actinic keratosis acute promyelocytic leukemia adrenal adenoma adrenal carcinoma adrenal cortex cancer adrenal gland cancer adrenocortical carcinoma agnosia allergic asthma amnestic disorder angiomatous meningioma aniridia anxiety disorder asthma attention deficit hyperactivity disorder autistic disorder benign meningioma blepharospasm blindness breast cancer breast carcinoma cancer capillary hemangioma cardiomyopathy cataract 4 multiple types cavernous hemangioma central nervous system cancer cerebral convexity meningioma cervical adenocarcinoma cervical cancer cervix carcinoma cervix uteri carcinoma in situ chorioangioma chromophobe renal cell carcinoma clear cell meningioma clear cell renal cell carcinoma collecting duct carcinoma colorectal cancer colorectal carcinoma common cold cone-rod dystrophy congenital nystagmus congenital ptosis congestive heart failure cranial nerve disease cranial nerve palsy cutaneous fibrous histiocytoma deafness-dystonia-optic neuronopathy syndrome dementia depressive disorder developmental coordination disorder differentiated thyroid gland carcinoma dilated cardiomyopathy 1AA dilated cardiomyopathy 1B dilated cardiomyopathy 1BB dilated cardiomyopathy 1C dilated cardiomyopathy 1CC dilated cardiomyopathy 1D dilated cardiomyopathy 1DD dilated cardiomyopathy 1E dilated cardiomyopathy 1EE dilated cardiomyopathy 1FF dilated cardiomyopathy 1G dilated cardiomyopathy 1GG dilated cardiomyopathy 1H dilated cardiomyopathy 1HH dilated cardiomyopathy 1I dilated cardiomyopathy 1II dilated cardiomyopathy 1JJ dilated cardiomyopathy 1K dilated cardiomyopathy 1KK dilated cardiomyopathy 1L dilated cardiomyopathy 1M dilated cardiomyopathy 1NN dilated cardiomyopathy 1O dilated cardiomyopathy 1P dilated cardiomyopathy 1Q dilated cardiomyopathy 1R dilated cardiomyopathy 1S dilated cardiomyopathy 1T dilated cardiomyopathy 1U dilated cardiomyopathy 1V dilated cardiomyopathy 1W dilated cardiomyopathy 1X dilated cardiomyopathy 1Y dilated cardiomyopathy 1Z dilated cardiomyopathy 2A dilated cardiomyopathy 2B dilated cardiomyopathy dissociated nystagmus duodenum cancer dysthymic disorder dystonia early myoclonic encephalopathy embryoma endometrial cancer endometrial carcinoma endomyocardial fibrosis epilepsy exanthem familial hypertrophic cardiomyopathy fibrous meningioma fissured tongue focal hand dystonia fundus albipunctatus gastrointestinal stromal tumor gastrointestinal system cancer generalized anxiety disorder geographic tongue gliosarcoma glomangioma glomerulonephritis glomus tumor goiter growth hormone secreting pituitary adenoma gynecomastia heart cancer hemangioma hepatocellular carcinoma hidradenoma high grade glioma histiocytoid hemangioma hypercalcemia hypertensive retinopathy hypertrophic cardiomyopathy hypertrophy of breast ileus infant gynecomastia insulinoma intellectual disability intestinal obstruction intramuscular hemangioma intraorbital meningioma intraventricular meningioma intrinsic asthma inverted follicular keratosis keratoacanthoma keratosis kidney cancer kidney disease large intestine cancer learning disability left ventricular noncompaction leprosy lipoma liver cancer lymphangioma major depressive disorder melancholic depression melanoacanthoma melanoma meningioma meningothelial meningioma microcephaly microcystic meningioma mitochondrial complex II deficiency mixed glioma mononeuritis multiplex mononeuritis mononeuropathy multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2A myopia nephritis nephrocalcinosis neuroblastoma neuroendocrine carcinoma neuroendocrine tumor neurofibromatosis 1 neurofibromatosis neurotic disorder nonepidermolytic palmoplantar keratoderma nonpapillary renal cell carcinoma nontoxic goiter obsolete intestinal pseudo-obstruction obsolete melancholia ocular melanoma olfactory groove meningioma ophthalmoplegia optic atrophy palmoplantar keratosis papillary renal cell carcinoma papilloma paraganglioma paralytic ileus parasagittal meningioma pathologic nystagmus pheochromocytoma phobic disorder phosphorus metabolism disease pituitary adenoma placental insufficiency pleomorphic lipoma primary autosomal recessive microcephaly 1 proteinuria psammomatous meningioma ptosis pulmonary large cell neuroendocrine carcinoma renal artery obstruction renal carcinoma renal cell carcinoma renal osteodystrophy retinitis pigmentosa retinoblastoma retrograde amnesia sarcomatoid renal cell carcinoma scoliosis seborrheic keratosis secretory meningioma sensorineural hearing loss skin disease skin melanoma skin papilloma skin tag small intestine cancer spinal meningioma spontaneous ocular nystagmus squamous cell papilloma stomach cancer stomach carcinoma syringoma thyroid adenoma thyroid cancer thyroid gland carcinoma thyroid gland disease thyroid gland follicular carcinoma thyroid gland medullary carcinoma transitional meningioma trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tricuspid valve insufficiency tuberculosis tuberous sclerosis uterine corpus cancer uveal melanoma visual epilepsy von Hippel-Lindau disease
P25103	Substance-P receptor	TACR1 NK1R TAC1R	Homo sapiens (human)	2	0
P21452	Substance-K receptor	TACR2 NK2R NKNAR TAC2R	Homo sapiens (human)	2	0
Q9BQ83	Structure-specific endonuclease subunit SLX1	SLX1A SLX1B GIYD1 GIYD2 SLX1	Homo sapiens (human)	0	1
Q96SB8	Structural maintenance of chromosomes protein 6	SMC6 SMC6L1	Homo sapiens (human)	3	2
Q8IY18	Structural maintenance of chromosomes protein 5	SMC5 KIAA0594 SMC5L1	Homo sapiens (human)	1	2
Q9NTJ3	Structural maintenance of chromosomes protein 4	SMC4 CAPC SMC4L1	Homo sapiens (human)	2	4
Q9UQE7	Structural maintenance of chromosomes protein 3	SMC3 BAM BMH CSPG6 SMC3L1	Homo sapiens (human)	2	1	Burkitt lymphoma Cockayne syndrome Cornelia de Lange syndrome 1 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 3 Cornelia de Lange syndrome Dubowitz syndrome Laron syndrome Marfan syndrome Meckel syndrome Noonan syndrome 10 Noonan syndrome 1 Noonan syndrome 2 Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 5 Noonan syndrome 6 Noonan syndrome 7 Noonan syndrome 8 Noonan syndrome 9 Noonan syndrome Peters anomaly Prader-Willi syndrome Roberts syndrome Robinow syndrome Seckel syndrome Silver-Russell syndrome Turner syndrome X-linked Aarskog syndrome achondroplasia acute myeloid leukemia adenocarcinoma adenoma adult lymphoma allergic asthma anxiety disorder arteriosclerotic cardiovascular disease asthma atherosclerosis atrial heart septal defect 1 atrial heart septal defect 2 atrial heart septal defect 3 atrial heart septal defect 4 atrial heart septal defect 5 atrial heart septal defect 6 atrial heart septal defect 7 atrial heart septal defect 8 atrial heart septal defect 9 atrial heart septal defect attention deficit hyperactivity disorder atypical chronic myeloid leukemia, BCR-ABL1 negative autistic disorder autosomal dominant Robinow syndrome 1 autosomal dominant Robinow syndrome 2 autosomal dominant Robinow syndrome 3 autosomal dominant polycystic kidney disease autosomal recessive Robinow syndrome blepharitis blind hypotensive eye bone cancer bone osteosarcoma bronchus cancer bronchus carcinoma cancer carcinoma cataract 32 multiple types cataract central nervous system lymphoma childhood lymphoma choanal atresia chondrodysplasia-pseudohermaphroditism syndrome chronic interstitial cystitis chronic monocytic leukemia cleft palate cleidocranial dysplasia clubfoot colon carcinoma colorectal cancer cone-rod dystrophy congenital diaphragmatic hernia congenital nystagmus congenital ptosis cornea plana coronary artery disease craniosynostosis cribriform carcinoma cryptorchidism dissociated nystagmus embryoma epilepsy esophagitis fundus albipunctatus gastroesophageal reflux disease generalized anxiety disorder gingivitis glaucoma gonadal dysgenesis granular cell carcinoma hepatocellular carcinoma humeroradial synostosis hydrocephalus hypertrichosis hypertropia hypospadias inguinal hernia intellectual disability interstitial cystitis intestinal benign neoplasm intestinal cancer intestinal volvulus intrinsic asthma isolated cleft palate kidney failure kwashiorkor large intestine cancer learning disability liver cancer lung benign neoplasm lung cancer lung carcinoma lymphoid leukemia lymphoma marasmus mechanical strabismus megacolon microcephalic osteodysplastic primordial dwarfism type I microcephalic osteodysplastic primordial dwarfism type II microcephaly myeloid leukemia myopia neuropathy nutrition disease obsolete SC phocomelia syndrome obsolete ymphosarcoma ophthalmoplegia osteosarcoma patent foramen ovale pathologic nystagmus peptic esophagitis periodontitis peripheral nervous system disease placental insufficiency pneumonia prostate cancer prostate carcinoma protein-energy malnutrition prune belly syndrome ptosis pulmonary valve stenosis pyloric stenosis radioulnar synostosis retinitis pigmentosa sarcomatoid carcinoma sensorineural hearing loss situs inversus speech disorder spontaneous ocular nystagmus strabismus syndromic X-linked intellectual disability 94 thromboangiitis obliterans toxic megacolon trichohepatoenteric syndrome 1 trichohepatoenteric syndrome tuberous sclerosis tubular adenocarcinoma ventricular septal defect vesicoureteral reflux visual epilepsy
O95347	Structural maintenance of chromosomes protein 2	SMC2 CAPE SMC2L1	Homo sapiens (human)	6	1
Q8NDV3	Structural maintenance of chromosomes protein 1B	SMC1B SMC1L2	Homo sapiens (human)	1	1
Q14683	Structural maintenance of chromosomes protein 1A	SMC1A DXS423E KIAA0178 SB1.8 SMC1 SMC1L1	Homo sapiens (human)	3	2
A6NHR9	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	SMCHD1 KIAA0650	Homo sapiens (human)	1	1
P08254	Stromelysin-1	MMP3 STMY1	Homo sapiens (human)	2	1

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