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Q14905312-P2293
P2293
Q14905312
MASP1
Q7187
[ "RaRF", "MAP1", "MAp44", "MASP3", "3MC1", "CRARF", "CRARF1", "PRSS5" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q14878377-P2293
P2293
Q14878377
PTEN
Q7187
[ "MMAC1", "phosphatase and tensin homolog", "TEP1", "GLM2", "Phosphatase and tensin homolog", "MHAM", "BZS", "DEC", "PTENbeta", "10q23del", "CWS1", "PTEN1" ]
[ "Q1138188", "Q3508737", "Q18348812", "Q32136586" ]
[ "Cowden syndrome 1", "multiple hamartoma syndrome", "head and neck squamous cell carcinoma", "macrocephaly-autism syndrome" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "Lhermitte-Duclos disease", "Multiple hamartoma syndrome", "Cowden's disease", "Cowden disease" ], [ "PHTS", "Hamartoma Syndrome, Multiple", "PTEN hamartoma tumor syndrome" ], [ "SCCHN", "HNSCC", "carcinoma of the head and neck" ], [] ]
Q18037219-P2293
P2293
Q18037219
ZFYVE26
Q7187
[ "FYVE-CENT", "SPG15", "zinc finger FYVE-type containing 26" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18027858-P2293
P2293
Q18027858
IL10RA
Q7187
[ "interleukin 10 receptor subunit alpha", "IL-10R1", "CD210", "CD210a", "CDW210A", "HIL-10R", "Interleukin 10 receptor, alpha subunit" ]
[ "Q32144473" ]
[ "inflammatory bowel disease 28" ]
[ "Q12136" ]
[ [ "IBD28", "inflammatory bowel disease type 28" ] ]
Q18043161-P2293
P2293
Q18043161
MARCHF4
Q7187
[ "membrane associated ring-CH-type finger 4", "MARCH-IV", "MARCH4", "RNF174" ]
[ "Q133823" ]
[ "migraine disorder" ]
[ "Q12136" ]
[ [ "migraine disorders", "migraine variant", "migraine with or without aura", "sick headache" ] ]
Q18037594-P2293
P2293
Q18037594
KCNE4
Q7187
[ "MIRP3" ]
[ "Q18553852" ]
[ "lymphoblastic leukemia" ]
[ "Q12136" ]
[ [ "lymphoid leukemia" ] ]
Q14911562-P2293
P2293
Q14911562
TGFBR3
Q7187
[ "betaglycan", "transforming growth factor beta receptor 3", "BGCAN" ]
[ "Q3025883" ]
[ "type 2 diabetes" ]
[ "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ] ]
Q18034029-P2293
P2293
Q18034029
LONP1
Q7187
[ "Lon protease homolog, mitochondrial", "CODASS", "hLON", "lon peptidase 1, mitochondrial", "LonHS", "PIM1", "PRSS15" ]
[ "Q54319441" ]
[ "CODAS syndrome" ]
[ "Q12136" ]
[ [] ]
Q18026556-P2293
P2293
Q18026556
GRM8
Q7187
[ "GLUR8", "glutamate metabotropic receptor 8", "GPRC1H", "mGlu8", "MGLUR8" ]
[ "Q4340209", "Q12252367", "Q18556697" ]
[ "mental depression", "atherosclerosis", "human immunodeficiency virus infectious disease" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [], [ "ASVD", "arteriosclerotic vascular disease" ], [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18037239-P2293
P2293
Q18037239
KAT6B
Q7187
[ "MORF", "qkf", "querkopf", "GTPTS", "MOZ2", "MYST4", "ZC2HC6B" ]
[ "Q8058422" ]
[ "Young-Simpson syndrome" ]
[ "Q12136" ]
[ [ "SBBYSS" ] ]
Q14890615-P2293
P2293
Q14890615
APOB
Q7187
[ "apolipoprotein B", "FCHL2", "apoB-100", "apoB-48", "FLDB", "LDLCQ4" ]
[ "Q389735", "Q1476525", "Q2351083" ]
[ "cardiovascular disease", "lipid metabolism disorder", "metabolic disease" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "Cardiovascular Diseases", "dvd", "cardiovascular system disease", "cardiovascular system scpestatua", "CV disease", "disease of subdivision of hemolymphoid system", "wats" ], [ "dyslipidemia", "fatty acid metabolism disorder", "lipid metabolism disorders" ], [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q14865314-P2293
P2293
Q14865314
COX1
Q7187
[ "MTCO1", "COI", "CO I" ]
[ "Q188874", "Q1262161" ]
[ "colorectal cancer", "Leber hereditary optic neuropathy" ]
[ "Q12136", "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ], [ "Leber's hereditary optic neuropathy", "LHON", "Leber's optic atrophy", "Leber optic atrophy", "optic atrophy, Leber's" ] ]
Q18030454-P2293
P2293
Q18030454
PEPD
Q7187
[ "peptidase D", "PROLIDASE" ]
[ "Q3025883", "Q7249599" ]
[ "type 2 diabetes", "prolidase deficiency" ]
[ "Q12136", "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ], [ "Hyperimidodipeptiduria" ] ]
Q18040601-P2293
P2293
Q18040601
ADA2
Q7187
[ "PAN", "adenosine deaminase 2", "cat eye syndrome chromosome region, candidate 1", "CECR1", "ADGF", "IDGFL", "SNEDS", "VAIHS" ]
[ "Q684840" ]
[ "Sneddon syndrome" ]
[ "Q12136" ]
[ [ "Ehrmann-Sneddon syndrome", "Sneddon's syndrome" ] ]
Q18040047-P2293
P2293
Q18040047
SLC45A2
Q7187
[ "1A1", "OCA4", "AIM1", "MATP", "SHEP5", "solute carrier family 45 member 2" ]
[ "Q180614" ]
[ "melanoma" ]
[ "Q12136" ]
[ [ "malignant melanoma", "Naevocarcinom", "Naevocarcinoma" ] ]
Q18042174-P2293
P2293
Q18042174
SULF2
Q7187
[ "sulfatase 2", "HSULF-2" ]
[ "Q181923" ]
[ "attention deficit hyperactivity disorder" ]
[ "Q12136" ]
[ [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ] ]
Q18048165-P2293
P2293
Q18048165
TSPAN18
Q7187
[ "tetraspanin 18" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q14914316-P2293
P2293
Q14914316
KCNQ3
Q7187
[ "BFNC2", "EBN2", "KV7.3", "potassium voltage-gated channel subfamily Q member 3" ]
[ "Q844935" ]
[ "coronary artery disease" ]
[ "Q12136" ]
[ [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ] ]
Q18031514-P2293
P2293
Q18031514
SKIV2L
Q7187
[ "HLP", "SKI2", "Ski2 like RNA helicase", "THES2", "170A", "DDX13", "SKI2W", "SKIV2L1" ]
[ "Q830308" ]
[ "age related macular degeneration" ]
[ "Q12136" ]
[ [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ] ]
Q18049219-P2293
P2293
Q18049219
ACSM1
Q7187
[ "BUCS1", "MACS1" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q20970208-P2293
P2293
Q20970208
PPARG
Q7187
[ "NR1C3", "peroxisome proliferator activated receptor gamma", "PPARgamma", "GLM1", "CIMT1", "PPARG1", "PPARG2", "PPARG5" ]
[ "Q3025883", "Q5432945" ]
[ "type 2 diabetes", "familial partial lipodystrophy" ]
[ "Q12136", "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ], [ "FPLD3", "PPARG-related FPLD", "Dunnigan Syndrome", "Familial partial lipodystrophy type 3", "Koberling-Dunnigan Syndrome" ] ]
Q1181014-P2293
P2293
Q1181014
DNM1
Q7187
[ "dynamin 1", "Dynamin-1", "EIEE31" ]
[ "Q181923" ]
[ "attention deficit hyperactivity disorder" ]
[ "Q12136" ]
[ [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ] ]
Q18035095-P2293
P2293
Q18035095
SORBS3
Q7187
[ "sorbin and SH3 domain containing 3", "SCAM-1", "SCAM1", "SH3D4" ]
[ "Q18556697" ]
[ "human immunodeficiency virus infectious disease" ]
[ "Q12136" ]
[ [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18035408-P2293
P2293
Q18035408
COG5
Q7187
[ "CDG2I", "GOLTC1", "GTC90" ]
[ "Q62736" ]
[ "osteoarthritis" ]
[ "Q12136" ]
[ [ "degenerative arthritis", "degenerative joint disease", "hypertrophic arthritis", "osteoarthrosis", "osteoarthrosis and allied disorder" ] ]
Q18045544-P2293
P2293
Q18045544
CDH23
Q7187
[ "USH1D", "cadherin related 23", "cadherin-related 23", "CDHR23", "PITA5" ]
[ "Q131755", "Q9079046" ]
[ "bipolar disorder", "nonsyndromic deafness" ]
[ "Q12136", "Q12136" ]
[ [ "BP", "depressione bipolare", "depressione maniacale", "disturbo affettivo bipolare", "disturbo bipolare maniacale I.", "disturbo bipolare misto", "disturbo maniacale", "disturbo maniaco-depressivo", "follia circolare", "ipomania mania", "malattia bipolare", "malattia maniaco-depressiva", "mania ipomania", "psicosi maniaco-depressiva" ], [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18028493-P2293
P2293
Q18028493
LCP1
Q7187
[ "LPL", "lymphocyte cytosolic protein 1", "CP64", "HEL-S-37", "L-PLASTIN", "LC64P", "PLS2" ]
[ "Q6058862" ]
[ "fatty liver disease" ]
[ "Q12136" ]
[ [ "fatty change of liver", "fatty degeneration of the liver", "hepatic lipidosis", "hepatic steatosis", "liver steatosis", "steatosis of liver", "steatosis of liver (disorder)", "steatosis of the liver" ] ]
Q18031085-P2293
P2293
Q18031085
REL
Q7187
[ "C-Rel" ]
[ "Q187255", "Q511097" ]
[ "rheumatoid arthritis", "psoriatic arthritis" ]
[ "Q12136", "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ], [ "arthritis psoriatica", "Arthritis, Psoriatic", "arthropathic psoriasis", "psoriatic arthropathy" ] ]
Q18036690-P2293
P2293
Q18036690
NMNAT2
Q7187
[ "PNAT2", "C1orf15" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18034583-P2293
P2293
Q18034583
VGLL4
Q7187
[ "vestigial like family member 4", "VGL-4" ]
[ "Q131749" ]
[ "anorexia nervosa" ]
[ "Q12136" ]
[ [ "anorexia nerviosa", "size 0" ] ]
Q14911762-P2293
P2293
Q14911762
CDK6
Q7187
[ "cyclin-dependent kinase 6", "MCPH12", "cyclin dependent kinase 6", "PLSTIRE" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q18031023-P2293
P2293
Q18031023
RAG2
Q7187
[ "recombination activating gene 2", "recombination activating 2" ]
[ "Q2214419" ]
[ "Omenn syndrome" ]
[ "Q12136" ]
[ [] ]
Q18053449-P2293
P2293
Q18053449
ZNF438
Q7187
[ "zinc finger protein 438", "bA330O11.1" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18047740-P2293
P2293
Q18047740
MYO18B
Q7187
[ "KFS4", "myosin XVIIIB" ]
[ "Q41112", "Q131755", "Q4340209" ]
[ "schizophrenia", "bipolar disorder", "mental depression" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ], [ "BP", "depressione bipolare", "depressione maniacale", "disturbo affettivo bipolare", "disturbo bipolare maniacale I.", "disturbo bipolare misto", "disturbo maniacale", "disturbo maniaco-depressivo", "follia circolare", "ipomania mania", "malattia bipolare", "malattia maniaco-depressiva", "mania ipomania", "psicosi maniaco-depressiva" ], [] ]
Q14912280-P2293
P2293
Q14912280
CHEK2
Q7187
[ "hCds1", "CDS1", "RAD53", "LFS2", "checkpoint kinase 2", "CHK2", "HuCds1", "PP1425" ]
[ "Q47912" ]
[ "lung cancer" ]
[ "Q12136" ]
[ [ "malignant lung tumor", "malignant neoplasm of lung" ] ]
Q18028678-P2293
P2293
Q18028678
LSP1
Q7187
[ "lymphocyte-specific protein 1", "pp52", "lymphocyte specific protein 1", "WP34" ]
[ "Q1477", "Q504775" ]
[ "ulcerative colitis", "bladder cancer" ]
[ "Q12136", "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ], [ "cancer of urinary bladder", "Malignant Bladder Neoplasm", "Malignant Bladder Tumor", "Malignant Neoplasm of Bladder", "Malignant Neoplasm, Bladder", "Malignant Tumor of Bladder", "Malignant Tumor of the Bladder", "Malignant Urinary Bladder Tumor", "tumor of the bladder", "urinary bladder cancer", "Urinary Bladder Malignant Tumor" ] ]
Q18048662-P2293
P2293
Q18048662
DNER
Q7187
[ "bet", "delta/notch like EGF repeat containing", "UNQ26" ]
[ "Q3025883" ]
[ "type 2 diabetes" ]
[ "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ] ]
Q18050468-P2293
P2293
Q18050468
SLCO6A1
Q7187
[ "GST", "CT48", "OATP-I", "OATP6A1", "OATPY" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18039859-P2293
P2293
Q18039859
NSDHL
Q7187
[ "H105E3", "XAP104", "SDR31E1" ]
[ "Q3508568", "Q55782485" ]
[ "CHILD syndrome", "CK syndrome" ]
[ "Q12136", "Q12136" ]
[ [ "CHILD nevus", "Ichthyosis, CHILD syndrome" ], [] ]
Q417743-P2293
P2293
Q417743
PC
Q7187
[ "PCB", "pyruvate carboxylase" ]
[ "Q7263794", "Q18556697" ]
[ "pyruvate carboxylase deficiency disease", "human immunodeficiency virus infectious disease" ]
[ "Q12136", "Q12136" ]
[ [ "Ataxia With Lactic Acidosis 2", "Ataxia with lactic acidosis type 2", "Ataxia with lactic acidosis type II", "deficiency of pyruvic carboxylase", "Leigh syndrome due to PC deficiency", "Pc Deficiency" ], [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18029917-P2293
P2293
Q18029917
NDUFA8
Q7187
[ "CI-PGIV", "CI-19KD", "PGIV" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18040310-P2293
P2293
Q18040310
CABP2
Q7187
[ "calcium binding protein 2", "DFNB93" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18046802-P2293
P2293
Q18046802
CMIP
Q7187
[ "c-Maf inducing protein", "TCMIP" ]
[ "Q3025883" ]
[ "type 2 diabetes" ]
[ "Q12136" ]
[ [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ] ]
Q286987-P2293
P2293
Q286987
ABCA1
Q7187
[ "ABC-1", "Abc1", "ABC1", "ATP binding cassette subfamily A member 1", "CERP", "HDLCQTL13", "HDLDT1", "HPALP1", "TGD" ]
[ "Q168403", "Q844935", "Q1476525", "Q2351083" ]
[ "myopia", "coronary artery disease", "lipid metabolism disorder", "metabolic disease" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "near vision", "near-sightedness", "short-sightedness" ], [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ], [ "dyslipidemia", "fatty acid metabolism disorder", "lipid metabolism disorders" ], [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18034312-P2293
P2293
Q18034312
ATG5
Q7187
[ "ASP", "APG5", "autophagy related 5", "SCAR25", "APG5-LIKE", "APG5L", "hAPG5" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q18030945-P2293
P2293
Q18030945
PTPRJ
Q7187
[ "SCC1", "DEP1", "CD148", "HPTPeta", "R-PTP-ETA" ]
[ "Q18553852" ]
[ "lymphoblastic leukemia" ]
[ "Q12136" ]
[ [ "lymphoid leukemia" ] ]
Q14860537-P2293
P2293
Q14860537
SERPINA1
Q7187
[ "AAT", "A1A", "PI1", "A1AT", "alpha1AT", "nNIF", "PRO2275", "serpin family A member 1" ]
[ "Q622437" ]
[ "alpha-1-antitrypsin deficiency" ]
[ "Q12136" ]
[ [ "AATD", "Alpha-1 antitrypsin deficiency", "Alpha 1-antitrypsin deficiency", "Alpha 1 antitrypsin deficiency", "A-1ATD", "A1AD", "A1AT deficiency", "AAT deficiency" ] ]
Q18039818-P2293
P2293
Q18039818
CHST11
Q7187
[ "C4ST-1", "C4ST1", "C4ST", "HSA269537", "OCBMD" ]
[ "Q3743620" ]
[ "cannabis dependence" ]
[ "Q12136" ]
[ [ "cannabis abuse", "marijuana abuse weed abuse" ] ]
Q18054044-P2293
P2293
Q18054044
JAKMIP3
Q7187
[ "bA140A10.5", "C10orf14", "C10orf39", "Jamip3", "Janus kinase and microtubule interacting protein 3", "NECC2" ]
[ "Q199804" ]
[ "chronic obstructive pulmonary disease" ]
[ "Q12136" ]
[ [ "COLD", "COPD", "chronic obstructive airway disease", "Chronic Obstructive Airways Disease", "chronic obstructive airways disease NOS", "chronic obstructive lung disease", "chronic obstructive lung disease disorder", "obstructive lung disease, chronic" ] ]
Q18030567-P2293
P2293
Q18030567
PKHD1
Q7187
[ "ARPKD", "PKD4", "FPC", "FCYT", "TIGM1" ]
[ "Q181257" ]
[ "prostate cancer" ]
[ "Q12136" ]
[ [ "hereditary prostate cancer", "malignant tumor of the prostate", "prostate cancer, familial", "prostatic cancer", "tumor of the prostate" ] ]
Q14594058-P2293
P2293
Q14594058
KCNE3
Q7187
[ "MiRP2", "HOKPP", "HYPP", "BRGDA6" ]
[ "Q177895" ]
[ "astigmatism" ]
[ "Q12136" ]
[ [] ]
Q17927578-P2293
P2293
Q17927578
FBLN1
Q7187
[ "fibulin 1", "FIBL1" ]
[ "Q131755" ]
[ "bipolar disorder" ]
[ "Q12136" ]
[ [ "BP", "depressione bipolare", "depressione maniacale", "disturbo affettivo bipolare", "disturbo bipolare maniacale I.", "disturbo bipolare misto", "disturbo maniacale", "disturbo maniaco-depressivo", "follia circolare", "ipomania mania", "malattia bipolare", "malattia maniaco-depressiva", "mania ipomania", "psicosi maniaco-depressiva" ] ]
Q18025380-P2293
P2293
Q18025380
GALNT2
Q7187
[ "CDG2T", "GalNAc-T2" ]
[ "Q2351083" ]
[ "metabolic disease" ]
[ "Q12136" ]
[ [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18033532-P2293
P2293
Q18033532
TIMELESS
Q7187
[ "TIM1", "hTIM", "timeless circadian clock", "timeless circadian regulator" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18037015-P2293
P2293
Q18037015
PLCL2
Q7187
[ "phospholipase C like 2", "PLCE2" ]
[ "Q8277", "Q12152", "Q187255", "Q1072420" ]
[ "multiple sclerosis", "myocardial infarction", "rheumatoid arthritis", "primary biliary cirrhosis" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "MI", "heart attack", "infarctus myocardii acutus" ], [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ], [ "PBC", "biliary liver cirrhosis", "cholestatic cirrhosis", "primary biliary cholangitis", "Primary biliary cholangitis" ] ]
Q17710244-P2293
P2293
Q17710244
ADH1B
Q7187
[ "ADH2", "HEL-S-117" ]
[ "Q372701", "Q7331102" ]
[ "esophageal cancer", "alcohol abuse" ]
[ "Q12136", "Q12136" ]
[ [ "abdominal part of esophagus cancer", "Ca lower third oesophagus", "Ca middle third oesophagus", "cancer of abdominal part of esophagus", "cancer of the oesophagus", "esophagus cancer", "malignant tumor of abdominal esophagus", "oesophageal cancer" ], [ "alcohol use disorder", "ethanol abuse", "harmful use of alcohol" ] ]
Q18046189-P2293
P2293
Q18046189
ARMH3
Q7187
[ "C10orf76", "armadillo like helical domain containing 3", "chromosome 10 open reading frame 76" ]
[ "Q844935" ]
[ "coronary artery disease" ]
[ "Q12136" ]
[ [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ] ]
Q17912302-P2293
P2293
Q17912302
DACH1
Q7187
[ "dachshund family transcription factor 1" ]
[ "Q206901", "Q1054718" ]
[ "amyotrophic lateral sclerosis", "kidney disease" ]
[ "Q12136", "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ], [ "renal disease", "disease of kidney", "disorder of kidney", "kidney damage", "kidney diseases", "kidney injury", "kidney necrosis", "nephron damage", "nephropathy" ] ]
Q14860072-P2293
P2293
Q14860072
SHH
Q7187
[ "TPT", "HLP3", "HHG1", "HPE3", "MCOPCB5", "ShhNC", "SMMCI", "sonic hedgehog", "Sonic hedgehog", "sonic hedgehog signaling molecule", "TPTPS" ]
[ "Q55780712" ]
[ "Laurin-Sandrow syndrome" ]
[ "Q12136" ]
[ [ "LSS", "Laurin Sandrow syndrome", "Mirror hands and feets-nasal defects syndrome", "Mirror-Image Polydactyly" ] ]
Q17909267-P2293
P2293
Q17909267
CREBL2
Q7187
[]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q18052177-P2293
P2293
Q18052177
CMTM8
Q7187
[ "CKLFSF8", "CKLFSF8-V2" ]
[ "Q18556697" ]
[ "human immunodeficiency virus infectious disease" ]
[ "Q12136" ]
[ [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18037287-P2293
P2293
Q18037287
PADI4
Q7187
[ "PAD4", "PADI5", "PDI4", "PDI5" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q14885879-P2293
P2293
Q14885879
TBXT
Q7187
[ "TFT", "SAVA", "T brachyury transcription factor", "T-box transcription factor T" ]
[ "Q1076389" ]
[ "chordoma" ]
[ "Q12136" ]
[ [ "Notochordal sarcoma", "notochordoma", "susceptibility to chordoma", "CHDM" ] ]
Q18035603-P2293
P2293
Q18035603
EBP
Q7187
[ "CHO2", "MEND", "CPX", "CDPX2", "CPXD" ]
[ "Q55782508" ]
[ "MEND syndrome" ]
[ "Q12136" ]
[ [ "Male EBP disorder with neurological defects", "MEND SYNDROME; MEND" ] ]
Q18052497-P2293
P2293
Q18052497
STRC
Q7187
[ "stereocilin", "DFNB16" ]
[ "Q9079046", "Q55783802" ]
[ "nonsyndromic deafness", "deafness-infertility syndrome" ]
[ "Q12136", "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ], [ "DIS" ] ]
Q18036717-P2293
P2293
Q18036717
ARHGAP26
Q7187
[ "GRAF", "Rho GTPase activating protein 26", "GRAF1", "OPHN1L", "OPHN1L1" ]
[ "Q2578247" ]
[ "juvenile myelomonocytic leukemia" ]
[ "Q12136" ]
[ [ "JMML", "Chronic Myelomonocytic Leukemia", "JCML" ] ]
Q20970123-P2293
P2293
Q20970123
ATP8B1
Q7187
[ "BRIC", "ICP1", "PFIC1", "PFIC", "FIC1", "ATPIC" ]
[ "Q180152", "Q181923", "Q596474" ]
[ "vitiligo", "attention deficit hyperactivity disorder", "conduct disorder" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "leukoderma", "leucoderma" ], [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ], [ "disruptive behavior disorder" ] ]
Q18055372-P2293
P2293
Q18055372
SLC6A19
Q7187
[ "HND", "solute carrier family 6 member 19", "B0AT1" ]
[ "Q1532449" ]
[ "glycinuria" ]
[ "Q12136" ]
[ [ "hyperglycinuria", "Iminoglycinuria Type 2" ] ]
Q18033785-P2293
P2293
Q18033785
AIP
Q7187
[ "XAP-2", "aryl hydrocarbon receptor interacting protein", "XAP2", "ARA9", "FKBP16", "FKBP37", "PITA1", "SMTPHN" ]
[ "Q954831" ]
[ "prolactinoma" ]
[ "Q12136" ]
[ [ "familial prolactinoma", "Lactotroph Adenoma", "Pituitary Gland Prolactinoma", "Pituitary Prolactinoma", "PRLoma", "Prolactin secreting adenoma", "Prolactin Secreting Adenoma", "Prolactinoma of Pituitary", "Prolactinoma of the Pituitary", "Prolactinoma, Familial" ] ]
Q18042779-P2293
P2293
Q18042779
SLC12A9
Q7187
[ "CIP1", "CCC6", "hCCC6", "solute carrier family 12 member 9", "WO3.3" ]
[ "Q844935" ]
[ "coronary artery disease" ]
[ "Q12136" ]
[ [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ] ]
Q18030215-P2293
P2293
Q18030215
NRAS
Q7187
[ "ALPS4", "CMNS", "NCMS", "NRAS1", "NS6" ]
[ "Q2578247", "Q5464665" ]
[ "juvenile myelomonocytic leukemia", "follicular thyroid cancer" ]
[ "Q12136", "Q12136" ]
[ [ "JMML", "Chronic Myelomonocytic Leukemia", "JCML" ], [ "Adenocarcinoma, Follicular", "Follicular adenocarcinoma", "Follicular carcinoma", "follicular thyroid carcinoma", "NMTC2", "thyroid adenocarcinoma", "thyroid gland follicular carcinoma" ] ]
Q14903573-P2293
P2293
Q14903573
RAF1
Q7187
[ "NS5", "CRAF", "CMD1NN", "c-Raf" ]
[ "Q1364270" ]
[ "hypertrophic cardiomyopathy" ]
[ "Q12136" ]
[ [ "HCM", "Cardiomyopathy, Hypertrophic", "hypertrophic heart disease" ] ]
Q18034382-P2293
P2293
Q18034382
MINPP1
Q7187
[ "HIPER1", "MINPP2", "MIPP" ]
[ "Q5464665" ]
[ "follicular thyroid cancer" ]
[ "Q12136" ]
[ [ "Adenocarcinoma, Follicular", "Follicular adenocarcinoma", "Follicular carcinoma", "follicular thyroid carcinoma", "NMTC2", "thyroid adenocarcinoma", "thyroid gland follicular carcinoma" ] ]
Q18034725-P2293
P2293
Q18034725
ELMO1
Q7187
[ "CED-12", "CED12", "engulfment and cell motility 1" ]
[ "Q11081", "Q11088", "Q187255", "Q3025883", "Q18553852" ]
[ "Alzheimer's disease", "coeliac disease", "rheumatoid arthritis", "type 2 diabetes", "lymphoblastic leukemia" ]
[ "Q12136", "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ], [ "celiac disease", "celiac sprue", "endemic sprue", "gluten enteropathy", "idiopathic steatorrhea", "nontropical sprue" ], [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ], [ "Diabetes mellitus type 2", "diabetes (type 2)", "Diabetes Mellitus, Type 2", "NIDDM", "non-insulin-dependent diabetes mellitus", "Rare insulin-independent diabetes mellitus", "type 2 diabetes mellitus", "type II diabetes mellitus" ], [ "lymphoid leukemia" ] ]
Q14913201-P2293
P2293
Q14913201
ACAT1
Q7187
[ "T2", "MAT", "THIL" ]
[ "Q4897218" ]
[ "beta-ketothiolase deficiency" ]
[ "Q12136" ]
[ [ "Mat Deficiency", "BKT", "3-ketothiolase deficiency", "3-Ktd Deficiency", "3-oxothiolase deficiency", "Alpha methylacetoacetic aciduria", "alpha-methylacetoaceticaciduria", "peroxisomal thiolase deficiency", "T2 Deficiency" ] ]
Q18047355-P2293
P2293
Q18047355
BRIP1
Q7187
[ "FANCJ", "OF", "BACH1" ]
[ "Q172341" ]
[ "ovarian cancer" ]
[ "Q12136" ]
[ [ "Familial ovarian malignant tumor", "hereditary ovarian cancer", "malignant ovarian tumor", "malignant tumour of ovary", "primary ovarian cancer" ] ]
Q17907825-P2293
P2293
Q17907825
CNGA1
Q7187
[ "RCNC1", "RCNCa", "RCNCalpha", "RP49", "CNG-1", "CNG1", "CNCG", "CNCG1" ]
[ "Q847057" ]
[ "retinitis pigmentosa" ]
[ "Q12136" ]
[ [ "RP", "pericentral pigmentary retinopathy", "pigmentary degeneration of the retina" ] ]
Q1022703-P2293
P2293
Q1022703
ZMPSTE24
Q7187
[ "FACE-1", "FACE1", "HGPS", "PRO1", "Ste24p", "zinc metallopeptidase STE24" ]
[ "Q7316329" ]
[ "Restrictive dermopathy" ]
[ "Q12136" ]
[ [ "hyperkeratosis-contracture syndrome", "lethal restrictive dermopathy", "tight skin contracture syndrome" ] ]
Q18298365-P2293
P2293
Q18298365
FCSK
Q7187
[ "fucokinase", "Fuk", "fucose kinase", "1110046B12Rik", "AI303278", "CDGF2" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18033998-P2293
P2293
Q18033998
TRIP12
Q7187
[ "ULF", "thyroid hormone receptor interactor 12" ]
[ "Q53660486" ]
[ "autosomal dominant mental retardation 49" ]
[ "Q12136" ]
[ [ "MRD49" ] ]
Q18031100-P2293
P2293
Q18031100
RFC5
Q7187
[ "replication factor C subunit 5", "RFC36" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q14904803-P2293
P2293
Q14904803
DPP4
Q7187
[ "dipeptidyl peptidase 4", "ADABP", "ADCP2", "CD26", "DPPIV", "TP103" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q18044964-P2293
P2293
Q18044964
ARHGAP22
Q7187
[ "Rho GTPase activating protein 22", "RhoGAP2", "RhoGap22" ]
[ "Q631361" ]
[ "diabetic retinopathy" ]
[ "Q12136" ]
[ [ "diabetic eye disease", "diabetic oculopathy", "retinal abnormality - diabetes-related" ] ]
Q18063267-P2293
P2293
Q18063267
PSORS1C3
Q7187
[ "NCRNA00196" ]
[ "Q1472", "Q18556697" ]
[ "Crohn's disease", "human immunodeficiency virus infectious disease" ]
[ "Q12136", "Q12136" ]
[ [ "Crohn disease", "Crohn's disease of colon", "Crohn's disease of large bowel", "Granulomatous Colitis", "regional colitis", "regional enteritis", "regional enteritis of the large bowel", "regional Ileitis", "regional ileocolitis" ], [ "HIV infection", "HIV-positive", "HIV+" ] ]
Q18292821-P2293
P2293
Q18292821
BCR
Q7187
[ "CML", "ALL", "PHL", "5133400C09Rik", "AI561783", "AI853148", "BCR gene", "BCR1", "D22S11", "D22S662", "mKIAA3017" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18047683-P2293
P2293
Q18047683
NTNG2
Q7187
[ "NTNG1", "bA479K20.1", "LHLL9381", "Lmnt2", "NEDBASH", "netrin G2" ]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q18041829-P2293
P2293
Q18041829
CHST12
Q7187
[ "C4ST-2", "C4ST2", "C4S-2" ]
[ "Q8277" ]
[ "multiple sclerosis" ]
[ "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ] ]
Q18030075-P2293
P2293
Q18030075
NFIA
Q7187
[ "CTF", "NF1-A", "BRMUTD", "NFI-L", "nuclear factor I A" ]
[ "Q11088" ]
[ "coeliac disease" ]
[ "Q12136" ]
[ [ "celiac disease", "celiac sprue", "endemic sprue", "gluten enteropathy", "idiopathic steatorrhea", "nontropical sprue" ] ]
Q17917650-P2293
P2293
Q17917650
EVC
Q7187
[ "DWF-1", "EvC ciliary complex subunit 1", "EVC1", "EVCL" ]
[ "Q181257" ]
[ "prostate cancer" ]
[ "Q12136" ]
[ [ "hereditary prostate cancer", "malignant tumor of the prostate", "prostate cancer, familial", "prostatic cancer", "tumor of the prostate" ] ]
Q18031129-P2293
P2293
Q18031129
GRK1
Q7187
[ "G protein-coupled receptor kinase 1", "GPRK1", "RHOK" ]
[ "Q32140422" ]
[ "Oguchi disease-2" ]
[ "Q12136" ]
[ [ "CSNBO2", "OGUCHI DISEASE 2", "Oguchi Disease type 2" ] ]
Q18035447-P2293
P2293
Q18035447
CIB2
Q7187
[ "KIP2", "DFNB48", "USH1J", "calcium and integrin binding family member 2" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18030071-P2293
P2293
Q18030071
NFATC2
Q7187
[ "nuclear factor of activated T-cells 2", "NFAT1", "NFATP", "nuclear factor of activated T cells 2" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18053364-P2293
P2293
Q18053364
UNC5B
Q7187
[ "p53RDL1", "unc-5 netrin receptor B", "UNC5H2" ]
[ "Q181923" ]
[ "attention deficit hyperactivity disorder" ]
[ "Q12136" ]
[ [ "ADD", "ADHD", "AD/HD", "hyperkinetic disorder", "A.D.H.D", "ADDH", "attention deficit disorder", "attention deficit hyperactivity syndrome", "attention deficit syndrome", "attention deficit/hyperactivity disorder" ] ]
Q18032993-P2293
P2293
Q18032993
CNTNAP1
Q7187
[ "contactin associated protein 1", "CASPR", "CHN3", "NRXN4", "P190" ]
[ "Q55784886" ]
[ "lethal congenital contracture syndrome 7" ]
[ "Q12136" ]
[ [ "LCCS7" ] ]
Q18031637-P2293
P2293
Q18031637
SNTB1
Q7187
[ "DAPA1B", "SNT2", "59-DAP", "A1B", "BSYN2", "SNT2B1", "syntrophin beta 1", "TIP-43" ]
[ "Q168403" ]
[ "myopia" ]
[ "Q12136" ]
[ [ "near vision", "near-sightedness", "short-sightedness" ] ]
Q5198271-P2293
P2293
Q5198271
CCND2
Q7187
[ "cyclin D2", "KIAK0002", "MPPH3" ]
[ "Q188874" ]
[ "colorectal cancer" ]
[ "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ] ]
Q18037069-P2293
P2293
Q18037069
ANKS1A
Q7187
[]
[ "Q12174", "Q844935", "Q3658562" ]
[ "obesity", "coronary artery disease", "non-small-cell lung carcinoma" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ], [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ], [ "NSCLC", "Non-small cell lung cancer", "lung non-small cell carcinoma", "Non Small Cell Lung Cancer NOS", "Non-Small Cell Cancer of Lung", "Non-Small Cell Cancer of the Lung", "Non-Small Cell Carcinoma of Lung", "Non-small cell lung cancer (disorder)", "Non-small cell lung cancer, NOS", "non-small cell lung carcinoma" ] ]
Q18036628-P2293
P2293
Q18036628
NT5C2
Q7187
[ "SPG45", "GMP", "cN-II", "NT5B", "PNT5", "SPG65" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18034064-P2293
P2293
Q18034064
RECQL4
Q7187
[ "RecQ like helicase 4", "RECQ4" ]
[ "Q1583485", "Q3508578", "Q3508616" ]
[ "Rothmund-Thomson syndrome", "rapadilino syndrome", "Baller-Gerold syndrome" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "Congenital poikiloderma", "Poikiloderma of Rothmund-Thomson", "Rothmund-Thomson syndrome (disorder)", "RTS" ], [ "Radial and patellar aplasia", "Radial and patellar hypoplasia" ], [ "BGS" ] ]
Q18044238-P2293
P2293
Q18044238
JCAD
Q7187
[ "KIAA1462", "junctional cadherin 5 associated" ]
[ "Q844935" ]
[ "coronary artery disease" ]
[ "Q12136" ]
[ [ "CAD", "CHD", "ischemic heart disease", "coronary heart disease", "IHD", "atherosclerosis of coronary artery", "atherosclerotic cardiovascular disease", "atherosclerotic heart disease", "CHD (coronary heart disease)", "coronary arteriosclerosis", "Coronary Atherosclerosis" ] ]
Q18030180-P2293
P2293
Q18030180
CNOT2
Q7187
[ "CDC36", "CCR4-NOT transcription complex subunit 2", "HSPC131", "IDNADFS", "NOT2H" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]