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Q14863436-P2293
P2293
Q14863436
BCL2
Q7187
[ "B-cell CLL/lymphoma 2", "BCL2, apoptosis regulator", "BCL2 apoptosis regulator", "PPP1R50" ]
[ "Q1088156" ]
[ "chronic lymphocytic leukemia" ]
[ "Q12136" ]
[ [ "CLL", "B Cell CLL", "B Cell Lymphocytic Leukemia", "B-cell chronic lymphoid leukemia", "B-Cell CLL", "B-Cell Lymphocytic Leukemia", "B-CLL", "BCLL", "chronic lymphatic leukemia", "Chronic Lymphogenous Leukemia", "Leukemia, Chronic Lymphatic", "lymphoplasmacytic leukemia", "Small lymphocytic lymphoma" ] ]
Q20777687-P2293
P2293
Q20777687
LINC02523
Q7187
[ "long intergenic non-protein coding RNA 2523", "uncharacterized LOC643623" ]
[ "Q944777" ]
[ "endometrial cancer" ]
[ "Q12136" ]
[ [ "Endometrial Tumor", "endometrium tumor", "tumor of Endometrium", "Tumor of the Endometrium" ] ]
Q18051900-P2293
P2293
Q18051900
PYHIN1
Q7187
[ "IFIX", "pyrin and HIN domain family member 1" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q18045581-P2293
P2293
Q18045581
XYLT2
Q7187
[ "SOS", "xylosyltransferase 2", "XT-II", "XT2", "xylT-II", "PXYLT2" ]
[ "Q1052391" ]
[ "inherited pseudoxanthoma elasticum" ]
[ "Q12136" ]
[ [ "PXE", "Gronblad Strandberg syndrome", "Gronblad-Strandberg syndrome" ] ]
Q14864464-P2293
P2293
Q14864464
IL10
Q7187
[ "CSIF", "interleukin 10", "TGIF", "GVHDS", "IL10A" ]
[ "Q1477" ]
[ "ulcerative colitis" ]
[ "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ] ]
Q18049755-P2293
P2293
Q18049755
ANKLE1
Q7187
[ "LEM3", "ankyrin repeat and LEM domain containing 1", "ANKRD41", "LEMD6" ]
[ "Q172341" ]
[ "ovarian cancer" ]
[ "Q12136" ]
[ [ "Familial ovarian malignant tumor", "hereditary ovarian cancer", "malignant ovarian tumor", "malignant tumour of ovary", "primary ovarian cancer" ] ]
Q14905473-P2293
P2293
Q14905473
VHL
Q7187
[ "pVHL", "HRCA1", "RCA1", "von Hippel-Lindau tumor suppressor", "VHL1" ]
[ "Q536269", "Q21694578" ]
[ "phaeochromocytoma", "familial erythrocytosis 2" ]
[ "Q12136", "Q12136" ]
[ [ "PCC", "Pheochromocytoma" ], [ "Chuvash erythrocytosis", "Chuvash erythromatosis", "Chuvash polycythemia", "Chuvash type polycythemia", "ECYT2", "Polycythemia, Chuvash Type" ] ]
Q18051355-P2293
P2293
Q18051355
LACC1
Q7187
[ "laccase domain containing 1", "C13orf31" ]
[ "Q1472" ]
[ "Crohn's disease" ]
[ "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" ] ]
Q17709638-P2293
P2293
Q17709638
ADCY2
Q7187
[ "adenylate cyclase 2", "AC2", "HBAC2" ]
[ "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" ] ]
Q18036138-P2293
P2293
Q18036138
FAF1
Q7187
[ "CGI-03", "Fas associated factor 1", "hFAF1", "HFAF1s", "UBXD12", "UBXN3A" ]
[ "Q3025883", "Q4713263" ]
[ "type 2 diabetes", "alcohol dependence" ]
[ "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" ], [ "Alcohol addiction", "alcoholism" ] ]
Q18039947-P2293
P2293
Q18039947
FAM135B
Q7187
[ "C8ORFK32", "family with sequence similarity 135 member B" ]
[ "Q520127" ]
[ "periodontitis" ]
[ "Q12136" ]
[ [ "chronic pericementitis", "periodontium inflammation", "periodontiumitis", "pyorrhea" ] ]
Q17928632-P2293
P2293
Q17928632
FOXG1
Q7187
[ "BF1", "BF2", "FHKL3", "FKH2", "FKHL1", "FKHL2", "FKHL3", "FKHL4", "forkhead box G1", "FOXG1A", "FOXG1B", "FOXG1C", "HBF-1", "HBF-2", "HBF-3", "HBF-G2", "HBF2", "HFK1", "HFK2", "HFK3", "KHL2", "QIN" ]
[ "Q917357" ]
[ "Rett syndrome" ]
[ "Q12136" ]
[ [ "atypical Rett syndrome", "Rett's syndrome", "Rett's disorder" ] ]
Q18038668-P2293
P2293
Q18038668
MORC1
Q7187
[ "MORC family CW-type zinc finger 1", "CT33", "ZCW6" ]
[ "Q188874" ]
[ "colorectal cancer" ]
[ "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ] ]
Q15318481-P2293
P2293
Q15318481
ZEB2
Q7187
[ "SIP-1", "SIP1", "zinc finger E-box binding homeobox 2", "SMADIP1", "HSPC082", "ZFHX1B" ]
[ "Q41112", "Q1164529", "Q2757585" ]
[ "schizophrenia", "renal cell carcinoma", "Mowat-Wilson syndrome" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ], [ "adenocarcinoma of kidney", "carcinoma, renal cell", "hypernephroma", "hypernephroma (disorder)", "Kidney Adenocarcinoma", "Peritoneal cavity", "Renal Cell Adenocarcinoma", "Renal cell carcinoma, NOS", "RCC", "Renal Cell Cancer", "Adenocarcinoma of the Kidney" ], [ "Hirschsprung disease mental retardation syndrome", "Hirschsprung disease-intellectual disability syndrome", "MOWS" ] ]
Q18052047-P2293
P2293
Q18052047
PPM1L
Q7187
[ "PP2C-epsilon", "PP2CE", "PPM1-LIKE" ]
[ "Q265936" ]
[ "Kawasaki disease" ]
[ "Q12136" ]
[ [ "Kd", "Kawasaki's disease", "acute febrile MCLS", "Infantile Polyarteritis", "Infantile Polyarteritis Nodosa", "Kawasaki disease, KD", "MLNS", "mucocutaneous lymph node syndrome" ] ]
Q17927821-P2293
P2293
Q17927821
FDFT1
Q7187
[ "SS", "SQS", "ERG9", "DGPT", "SQSD" ]
[ "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" ] ]
Q18046371-P2293
P2293
Q18046371
EHMT1
Q7187
[ "GLP", "bA188C12.1", "EHMT1-IT1", "Eu-HMTase1", "EUHMTASE1", "FP13812", "GLP1", "KLEFS1", "KMT1D" ]
[ "Q4646476" ]
[ "Kleefstra syndrome" ]
[ "Q12136" ]
[ [ "9q subtelomeric deletion syndrome", "9Q- Syndrome", "9q-syndrome", "9q34 deletion syndrome", "9q34.3 microdeletion syndrome", "Chromosome 9q deletion syndrome", "chromosome 9q34.3 deletion syndrome", "obsolete Kleefstra Syndrome" ] ]
Q18053209-P2293
P2293
Q18053209
SLC16A13
Q7187
[ "MCT13", "solute carrier family 16 member 13" ]
[ "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" ] ]
Q18052504-P2293
P2293
Q18052504
SPRED1
Q7187
[ "NFLS", "hSpred1", "LGSS", "PPP1R147" ]
[ "Q890470" ]
[ "Legius syndrome" ]
[ "Q12136" ]
[ [ "Neurofibromatosis 1-like syndrome", "Neurofibromatosis type 1 like syndrome", "NF1-like syndrome" ] ]
Q18027359-P2293
P2293
Q18027359
HSPA9
Q7187
[ "PBP74", "EVPLS", "MOT", "SAAN", "MOT2", "HSPA9B", "CRP40", "GRP75", "HEL-S-124m", "MTHSP75", "SIDBA4", "CSA", "GRP-75" ]
[ "Q19833018" ]
[ "autosomal dominant sideroblastic anemia" ]
[ "Q12136" ]
[ [] ]
Q18063749-P2293
P2293
Q18063749
KLLN
Q7187
[ "killin, p53 regulated DNA replication inhibitor", "CWS4", "KILLIN", "killin, p53-regulated DNA replication inhibitor" ]
[ "Q69637370" ]
[ "Cowden syndrome 4" ]
[ "Q12136" ]
[ [] ]
Q18035352-P2293
P2293
Q18035352
NDRG1
Q7187
[ "RTP", "CAP43", "CMT4D", "GC4", "HMSNL", "N-myc downstream regulated 1", "NDR1", "NMSL", "PROXY1", "RIT42", "TARG1", "TDD5" ]
[ "Q202387" ]
[ "post-traumatic stress disorder" ]
[ "Q12136" ]
[ [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ] ]
Q18047843-P2293
P2293
Q18047843
SPPL2A
Q7187
[ "IMP3", "signal peptide peptidase like 2A", "PSL2" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18034084-P2293
P2293
Q18034084
CDYL
Q7187
[ "chromodomain Y like", "chromodomain protein, Y-like", "CDYL1" ]
[ "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" ] ]
Q18040744-P2293
P2293
Q18040744
CNTN5
Q7187
[ "contactin 5", "HNB-2s", "NB-2" ]
[ "Q12214", "Q168403" ]
[ "smallpox", "myopia" ]
[ "Q12136", "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ], [ "near vision", "near-sightedness", "short-sightedness" ] ]
Q18047620-P2293
P2293
Q18047620
MEGF10
Q7187
[ "SR-F3", "EMARDD", "multiple EGF like domains 10" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18031834-P2293
P2293
Q18031834
MAP3K7
Q7187
[ "CSCF", "FMD2", "MEKK7", "mitogen-activated protein kinase kinase kinase 7", "TAK1", "TGF1a" ]
[ "Q17540795" ]
[ "Forney robinson pascoe syndrome" ]
[ "Q12136" ]
[ [ "Forney syndrome", "Forney-Robinson-Pascoe syndrome" ] ]
Q18025464-P2293
P2293
Q18025464
GATA3
Q7187
[ "HDR", "GATA binding protein 3", "HDRS" ]
[ "Q180664", "Q187255", "Q209369" ]
[ "acute lymphocytic leukemia", "rheumatoid arthritis", "Hodgkin lymphoma" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "ALL", "acute lymphoblastic leukaemia", "acute lymphoblastic leukemia" ], [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ], [ "HL", "Hodgkin's disease", "Hodgkin's lymphoma", "Hodgkin disease", "Hodgkin's sarcoma", "Hodgkins lymphoma" ] ]
Q14864515-P2293
P2293
Q14864515
IL2
Q7187
[ "TCGF", "interleukin 2", "lymphokine" ]
[ "Q42982", "Q124407" ]
[ "allergy", "type-1 diabetes" ]
[ "Q12136", "Q12136" ]
[ [ "allergic disease", "allergies", "hypersensitivity", "Immunologic diseases. Allergy" ], [ "T1DM", "diabetes (type 1)", "diabetes mellitus juvenile type", "Diabetes Mellitus, Type 1", "IDDM", "insulin dependent diabetes", "insulin-dependent diabetes mellitus", "juvenile diabetes", "Juvenile-Onset Diabetes", "type 1 diabetes mellitus", "type I diabetes mellitus" ] ]
Q18038320-P2293
P2293
Q18038320
ELP4
Q7187
[ "AN2", "C11orf19", "dJ68P15A.1", "hELP4", "PAX6NEB", "PAXNEB" ]
[ "Q55785125" ]
[ "aniridia 2; AN2" ]
[ "Q12136" ]
[ [ "Aniridia type 2" ] ]
Q18031501-P2293
P2293
Q18031501
ST3GAL3
Q7187
[ "ST3GalIII", "ST3N", "ST3Gal III", "EIEE15", "MRT12", "SIAT6", "ST3GALII" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18056721-P2293
P2293
Q18056721
MYMK
Q7187
[ "transmembrane protein 8C", "TMEM8C", "myomaker, myoblast fusion factor", "MYOMAKER", "TMEM226" ]
[ "Q3508625" ]
[ "Carey Fineman Ziter syndrome" ]
[ "Q12136" ]
[ [ "CFZ", "Carey-Fineman-Ziter syndrome", "Cfz Syndrome", "CFZS", "Myopathy-Moebius-Robin syndrome" ] ]
Q17544238-P2293
P2293
Q17544238
YAP1
Q7187
[ "YKI", "Yes1 associated transcriptional regulator", "Yes associated protein 1", "YAP65", "YAP2", "COB1" ]
[ "Q500816" ]
[ "polycystic ovary syndrome" ]
[ "Q12136" ]
[ [ "PCOS", "Polycystic ovaries", "Stein-Leventhal syndrome", "Hyperandrogenemia", "Multicystic ovaries", "Pco1", "PCOS1", "Polycystic Ovarian disease", "polysistic ovary syndrom", "Stein-Leventhal synd." ] ]
Q18033167-P2293
P2293
Q18033167
SKAP1
Q7187
[ "HEL-S-81p", "SCAP1", "SKAP55" ]
[ "Q172341" ]
[ "ovarian cancer" ]
[ "Q12136" ]
[ [ "Familial ovarian malignant tumor", "hereditary ovarian cancer", "malignant ovarian tumor", "malignant tumour of ovary", "primary ovarian cancer" ] ]
Q14901714-P2293
P2293
Q14901714
CAV3
Q7187
[ "caveolin 3", "RMD2", "MPDT", "LQT9", "LGMD1C", "VIP-21", "VIP21" ]
[ "Q161801", "Q54366429" ]
[ "sudden infant death syndrome", "hyperCKmia" ]
[ "Q12136", "Q12136" ]
[ [ "Sudden infant death syndrome (finding)", "SIDS", "Crib death", "cot death", "Cot death (context-dependent category)", "Crib death (context-dependent category)" ], [ "Cpk, Elevated Serum", "Hyperckemia, Idiopathic" ] ]
Q14887700-P2293
P2293
Q14887700
PIK3CA
Q7187
[ "PI3K", "MCM", "PI3K-alpha", "MCAP", "MCMTC", "CLAPO", "CLOVE", "CWS5", "p110-alpha" ]
[ "Q188874", "Q2166371", "Q22115476", "Q55783961" ]
[ "colorectal cancer", "seborrheic keratosis", "CLOVES syndrome", "CLAPO syndrome" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ], [ "Basal Cell Papilloma", "Keratosis Seborrheica", "Keratosis, Seborrheic" ], [ "Clove Syndrome" ], [ "Lopez-Gutierrez Syndrome" ] ]
Q18041952-P2293
P2293
Q18041952
PEX26
Q7187
[ "peroxisomal biogenesis factor 26", "PBD7A", "PBD7B", "PEX26M1T", "Pex26pM1T" ]
[ "Q51250082" ]
[ "Zellweger spectrum disorder" ]
[ "Q12136" ]
[ [ "ZSD", "cerebrohepatorenal syndrome", "Cerebrohepatorenal Syndrome", "PBD-ZSD", "PBD, ZSS", "peroxisome biogenesis disorder", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorder spectrum", "Zellweger syndrome spectrum", "Zellweger Syndrome Spectrum", "ZSS" ] ]
Q18029688-P2293
P2293
Q18029688
MX2
Q7187
[ "MXB", "MX dynamin like GTPase 2" ]
[ "Q180614" ]
[ "melanoma" ]
[ "Q12136" ]
[ [ "malignant melanoma", "Naevocarcinom", "Naevocarcinoma" ] ]
Q18055896-P2293
P2293
Q18055896
POLN
Q7187
[ "POL4P", "DNA polymerase nu", "polymerase (DNA) nu" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q17816212-P2293
P2293
Q17816212
AGTR2
Q7187
[ "MRX88", "Angiotensin II receptor type 2", "AT2", "ATGR2" ]
[ "Q178194" ]
[ "cystic fibrosis" ]
[ "Q12136" ]
[ [ "CF", "mucoviscidosis" ] ]
Q18042000-P2293
P2293
Q18042000
ATF7IP
Q7187
[ "AM", "MCAF", "ATF-IP", "activating transcription factor 7 interacting protein", "MCAF1", "p621" ]
[ "Q18556865" ]
[ "testicular germ cell cancer" ]
[ "Q12136" ]
[ [ "germ cell tumor of testis", "testicular germ cell neoplasm", "Testicular Germ Cell Tumor" ] ]
Q17907814-P2293
P2293
Q17907814
CMKLR1
Q7187
[ "DEZ", "CCX832", "CHEMERINR", "ChemR23", "RVER1" ]
[ "Q3658562" ]
[ "non-small-cell lung carcinoma" ]
[ "Q12136" ]
[ [ "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" ] ]
Q18042152-P2293
P2293
Q18042152
ZC4H2
Q7187
[ "zinc finger C4H2-type containing", "MCS", "MRXS4", "WWS", "HCA127", "KIAA1166", "WRWF", "WRWFFR" ]
[ "Q8041560" ]
[ "X-linked intellectual disability" ]
[ "Q12136" ]
[ [ "Mental Retardation, X-Linked", "syndromic X-linked intellectual disability" ] ]
Q18038734-P2293
P2293
Q18038734
TNFRSF21
Q7187
[ "DR6", "TNF receptor superfamily member 21", "tumor necrosis factor receptor superfamily member 21", "BM-018", "CD358" ]
[ "Q741713" ]
[ "panic disorder" ]
[ "Q12136" ]
[ [ "PD", "panic anxiety syndrome" ] ]
Q18031607-P2293
P2293
Q18031607
SMO
Q7187
[ "CRJS", "FZD11", "Gx", "SMOH", "smoothened, frizzled class receptor" ]
[ "Q55783221" ]
[ "Curry-Jones syndrome" ]
[ "Q12136" ]
[ [ "Curry Jones syndrome" ] ]
Q18030355-P2293
P2293
Q18030355
PAX4
Q7187
[ "MODY9", "KPD", "paired box 4" ]
[ "Q124407" ]
[ "type-1 diabetes" ]
[ "Q12136" ]
[ [ "T1DM", "diabetes (type 1)", "diabetes mellitus juvenile type", "Diabetes Mellitus, Type 1", "IDDM", "insulin dependent diabetes", "insulin-dependent diabetes mellitus", "juvenile diabetes", "Juvenile-Onset Diabetes", "type 1 diabetes mellitus", "type I diabetes mellitus" ] ]
Q17914047-P2293
P2293
Q17914047
DNMT3A
Q7187
[ "DNA methyltransferase 3 alpha", "DNMT3A2", "HESJAS", "M.HsaIIIA", "TBRS" ]
[ "Q1472" ]
[ "Crohn's disease" ]
[ "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" ] ]
Q18038817-P2293
P2293
Q18038817
PCLO
Q7187
[ "ACZ", "PCH3" ]
[ "Q42844", "Q55950055" ]
[ "major depressive disorders", "unipolar depression" ]
[ "Q12136", "Q12136" ]
[ [ "MDD", "depression", "clinical depression", "major depression", "major depression disorder", "recurrent depressive disorder", "recurrent major depression", "recurrent major depression in complete remission", "single major depressive episode", "unipolar depression", "unipolar disorder" ], [ "Major Depression" ] ]
Q17912742-P2293
P2293
Q17912742
DGKQ
Q7187
[ "DAGK", "diacylglycerol kinase theta", "DAGK7", "DAGK4" ]
[ "Q11085" ]
[ "Parkinson's disease" ]
[ "Q12136" ]
[ [ "Parkinson disease", "paralysis agitans", "parkinsonismus idiopathicus" ] ]
Q18047564-P2293
P2293
Q18047564
CCDC77
Q7187
[ "coiled-coil domain containing 77" ]
[ "Q9051491" ]
[ "morbid obesity" ]
[ "Q12136" ]
[ [ "Morbid obesity (disorder)", "Obesity, Morbid", "Severe obesity" ] ]
Q18031477-P2293
P2293
Q18031477
SH3GL2
Q7187
[ "CNSA2", "EEN-B1", "SH3D2A", "SH3P4" ]
[ "Q11085" ]
[ "Parkinson's disease" ]
[ "Q12136" ]
[ [ "Parkinson disease", "paralysis agitans", "parkinsonismus idiopathicus" ] ]
Q18033065-P2293
P2293
Q18033065
ELP1
Q7187
[ "FD", "elongator complex protein 1", "IKBKAP", "DYS", "IKAP", "IKI3", "TOT1" ]
[ "Q2325854" ]
[ "Riley-Day syndrome" ]
[ "Q12136" ]
[ [ "Dysautonomia, Familial", "familial autonomic nervous dysfunction", "familial dysautonomia", "HSAN 3", "HSAN III", "HSAN3" ] ]
Q18053511-P2293
P2293
Q18053511
LEMD2
Q7187
[ "LEM2", "LEM domain containing 2", "NET25", "LEM domain nuclear envelope protein 2", "CTRCT42", "dJ482C21.1" ]
[ "Q27674884" ]
[ "cataract 46 juvenile-onset" ]
[ "Q12136" ]
[ [ "Cataract Hutterite type", "CTRCT46" ] ]
Q17928227-P2293
P2293
Q17928227
FGG
Q7187
[ "fibrinogen gamma chain" ]
[ "Q56014077" ]
[ "congenital fibrinogen deficiency" ]
[ "Q12136" ]
[ [ "Fibrinogen deficiency, congenital" ] ]
Q18041803-P2293
P2293
Q18041803
LGR4
Q7187
[ "BNMD17", "GPR48" ]
[ "Q165328" ]
[ "osteoporosis" ]
[ "Q12136" ]
[ [ "bone loss" ] ]
Q18025811-P2293
P2293
Q18025811
GFRA3
Q7187
[ "GDNF family receptor alpha 3", "GDNFR3" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18049567-P2293
P2293
Q18049567
CDYL2
Q7187
[ "chromodomain Y like 2", "PCCP1" ]
[ "Q128581" ]
[ "breast cancer" ]
[ "Q12136" ]
[ [ "breast disorder", "malignant neoplasm of breast", "malignant tumor of the breast", "mammary cancer", "primary breast cancer" ] ]
Q14873945-P2293
P2293
Q14873945
ADAMTS13
Q7187
[ "vWF-CP", "C9orf8", "VWFCP" ]
[ "Q18604563" ]
[ "Upshaw Schulman Syndrome" ]
[ "Q12136" ]
[ [ "TTP", "Congenital ADAMTS-13 deficiency", "Congenital ADAMTS13 Deficiency", "Congenital TTP", "Familial TTP", "Microangiopathic Hemolytic Anemia", "Schulman-Upshaw Syndrome", "Upshaw Factor, Deficiency of", "Upshaw-Schulman Syndrome" ] ]
Q18039571-P2293
P2293
Q18039571
SETD2
Q7187
[ "HIF-1", "SET2", "LLS", "SET domain containing 2", "KMT3A", "HIP-1", "p231HBP", "HBP231", "HSPC069", "HYPB" ]
[ "Q264118" ]
[ "acute myeloid leukemia" ]
[ "Q12136" ]
[ [ "AML", "Acute Granulocytic Leukemia", "acute myeloblastic leukemia", "Acute Myelocytic Leukemia", "acute myelogenous leukemia", "Acute Myelogenous Leukemias", "acute myeloid leukaemia", "Acute non lymphoblastic leukemia", "AML - acute Myeloid Leukemia", "ANLL", "Leukemia, Acute Myelogenous", "Leukemia, Myelocytic, acute", "myeloid leukemia, acute" ] ]
Q18046693-P2293
P2293
Q18046693
PDGFD
Q7187
[ "SCDGF-B", "platelet derived growth factor D", "IEGF", "MSTP036", "SCDGFB" ]
[ "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" ] ]
Q14916487-P2293
P2293
Q14916487
DAB1
Q7187
[ "DAB1, reelin adaptor protein" ]
[ "Q12214", "Q180913", "Q21097779" ]
[ "smallpox", "bulimia", "spinocerebellar ataxia type 37" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ], [ "hyperorexia nervosasa" ], [ "SCA37" ] ]
Q18041562-P2293
P2293
Q18041562
CRTAC1
Q7187
[ "CEP68", "LOTUS", "ASPIC", "cartilage acidic protein 1", "CEP-68", "ASPIC1" ]
[ "Q2351083" ]
[ "metabolic disease" ]
[ "Q12136" ]
[ [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18029171-P2293
P2293
Q18029171
AFF1
Q7187
[ "AF4", "AF4/FMR2 family member 1", "MLLT2", "PBM1" ]
[ "Q1485", "Q11081" ]
[ "systemic lupus erythematosus", "Alzheimer's disease" ]
[ "Q12136", "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ], [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18053372-P2293
P2293
Q18053372
CCNY
Q7187
[ "CFP1", "cyclin Y", "C10orf9", "CBCP1", "CCNX" ]
[ "Q1477" ]
[ "ulcerative colitis" ]
[ "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ] ]
Q425264-P2293
P2293
Q425264
ASL
Q7187
[ "ASAL", "argininosuccinate lyase", "Argininosuccinate lyase" ]
[ "Q1654860" ]
[ "argininosuccinic aciduria" ]
[ "Q12136" ]
[ [ "Argininosuccinatelyase deficiency", "argininosuccinic acidemia", "Argininosuccinicaciduria", "arginosuccinase deficiency", "ASA deficiency", "Asl Deficiency", "ASA", "Arginino succinase deficiency", "Argininosuccinase deficiency", "Argininosuccinate acidemia", "Argininosuccinate lyase deficiency" ] ]
Q18046607-P2293
P2293
Q18046607
CWH43
Q7187
[ "CWH43-C", "PGAP2IP" ]
[ "Q154869" ]
[ "hepatitis C" ]
[ "Q12136" ]
[ [ "Viral hepatitis C", "chronic hepatitis C", "hep C", "hepatitis C infection", "hepatitis nonA nonB", "hepatitis type C", "NANBH", "Non-A, Non-B Hepatitis" ] ]
Q14863356-P2293
P2293
Q14863356
INSR
Q7187
[ "insulin receptor", "CD220", "HHF5" ]
[ "Q500816" ]
[ "polycystic ovary syndrome" ]
[ "Q12136" ]
[ [ "PCOS", "Polycystic ovaries", "Stein-Leventhal syndrome", "Hyperandrogenemia", "Multicystic ovaries", "Pco1", "PCOS1", "Polycystic Ovarian disease", "polysistic ovary syndrom", "Stein-Leventhal synd." ] ]
Q14905006-P2293
P2293
Q14905006
HEXB
Q7187
[ "hexosaminidase subunit beta", "ENC-1AS", "HEL-248", "HEL-S-111" ]
[ "Q917227" ]
[ "Sandhoff disease" ]
[ "Q12136" ]
[ [ "GM2 gangliosidosis 0 variant", "Sandhoff disease (disorder)", "Sandhoff Disease, Adult Type", "Sandhoff Disease, Infantile Type", "Sandhoff Disease, Juvenile Type", "Sandhoff Jatzkewitz disease" ] ]
Q5173299-P2293
P2293
Q5173299
CRHR2
Q7187
[ "corticotropin releasing hormone receptor 2", "CRF-RB", "CRF2", "CRFR2", "HM-CRF" ]
[ "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" ] ]
Q18039883-P2293
P2293
Q18039883
CDON
Q7187
[ "cell adhesion associated, oncogene regulated", "HPE11", "CDON1", "ORCAM" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18026074-P2293
P2293
Q18026074
GLB1
Q7187
[ "EBP", "ELNR1", "galactosidase beta 1", "MPS4B" ]
[ "Q268667" ]
[ "atopic dermatitis" ]
[ "Q12136" ]
[ [ "atopic dermatitis and related conditions", "Allergic", "Besnier's prurigo", "allergic dermatitis", "Atopic dermatitis (disorder)", "atopic eczema", "Atopic neurodermatitis" ] ]
Q18044649-P2293
P2293
Q18044649
G6PC2
Q7187
[ "IGRP" ]
[ "Q2351083" ]
[ "metabolic disease" ]
[ "Q12136" ]
[ [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18028260-P2293
P2293
Q18028260
KIF5B
Q7187
[ "HEL-S-61", "kinesin family member 5B", "KINH", "KNS", "KNS1", "UKHC" ]
[ "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" ] ]
Q17917469-P2293
P2293
Q17917469
ERCC4
Q7187
[ "RAD1", "excision repair cross-complementation group 4", "XPF", "FANCQ", "ERCC11", "XFEPS" ]
[ "Q596474" ]
[ "conduct disorder" ]
[ "Q12136" ]
[ [ "disruptive behavior disorder" ] ]
Q18031497-P2293
P2293
Q18031497
ST6GAL1
Q7187
[ "ST6GalI", "SIAT1", "ST6N" ]
[ "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" ] ]
Q14864844-P2293
P2293
Q14864844
DES
Q7187
[ "CSM1", "desmin", "LGMD2R", "LGMD1D", "LGMD1E", "CSM2", "CDCD3", "CMD1F" ]
[ "Q23893414", "Q28024554" ]
[ "myofibrillar myopathy", "dilated cardiomyopathy 1I" ]
[ "Q12136", "Q12136" ]
[ [ "Myofibrillar Myopathies" ], [ "CMD1I", "dilated cardiomyopathy type 1I" ] ]
Q18030976-P2293
P2293
Q18030976
PEX2
Q7187
[ "peroxisomal biogenesis factor 2", "PMP35", "PAF1", "PMP3", "PBD5A", "PBD5B", "PXMP3", "RNF72", "ZWS3" ]
[ "Q51250082" ]
[ "Zellweger spectrum disorder" ]
[ "Q12136" ]
[ [ "ZSD", "cerebrohepatorenal syndrome", "Cerebrohepatorenal Syndrome", "PBD-ZSD", "PBD, ZSS", "peroxisome biogenesis disorder", "Peroxisome biogenesis disorder", "Peroxisome biogenesis disorder spectrum", "Zellweger syndrome spectrum", "Zellweger Syndrome Spectrum", "ZSS" ] ]
Q14907337-P2293
P2293
Q14907337
SYK
Q7187
[ "spleen tyrosine kinase", "p72-Syk", "spleen associated tyrosine kinase" ]
[ "Q8277", "Q583908", "Q3025883" ]
[ "multiple sclerosis", "vascular dementia", "type 2 diabetes" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "Dementia, Vascular", "multifocal dementia" ], [ "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" ] ]
Q18035553-P2293
P2293
Q18035553
EXOC5
Q7187
[ "exocyst complex component 5", "PRO1912", "SEC10", "HSEC10", "SEC10L1", "SEC10P" ]
[ "Q7331102" ]
[ "alcohol abuse" ]
[ "Q12136" ]
[ [ "alcohol use disorder", "ethanol abuse", "harmful use of alcohol" ] ]
Q15324395-P2293
P2293
Q15324395
TRPM8
Q7187
[ "LTrpC-6", "trp-p8", "LTRPC6", "TRPP8" ]
[ "Q133823", "Q206901", "Q3724157", "Q18553762" ]
[ "migraine disorder", "amyotrophic lateral sclerosis", "migraine without aura", "migraine with aura" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "migraine disorders", "migraine variant", "migraine with or without aura", "sick headache" ], [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ], [ "common migraine", "Mgoa", "Mgr4" ], [ "classic migraine" ] ]
Q18041246-P2293
P2293
Q18041246
HYDIN
Q7187
[ "CILD5", "HYDIN1", "HYDIN2", "PPP1R31" ]
[ "Q11088", "Q199804" ]
[ "coeliac disease", "chronic obstructive pulmonary disease" ]
[ "Q12136", "Q12136" ]
[ [ "celiac disease", "celiac sprue", "endemic sprue", "gluten enteropathy", "idiopathic steatorrhea", "nontropical sprue" ], [ "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" ] ]
Q18041775-P2293
P2293
Q18041775
NIPSNAP3B
Q7187
[ "nipsnap homolog 3B", "FP944", "SNAP1" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18028416-P2293
P2293
Q18028416
KRT86
Q7187
[ "keratin 86", "HB6", "K86", "MNX", "Hb1", "hHb6", "KRTHB1", "KRTHB6" ]
[ "Q1363508" ]
[ "monilethrix" ]
[ "Q12136" ]
[ [ "MNLIX", "Beaded hair", "Moniliform hair syndrome", "Nodose hair" ] ]
Q18044426-P2293
P2293
Q18044426
VAT1L
Q7187
[ "vesicle amine transport 1 like" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q18030326-P2293
P2293
Q18030326
P2RY11
Q7187
[ "P2Y11", "purinergic receptor P2Y11" ]
[ "Q189561" ]
[ "narcolepsy" ]
[ "Q12136" ]
[ [ "Narcolepsy, without cataplexy", "paroxysmal sleep" ] ]
Q18033856-P2293
P2293
Q18033856
KCNQ4
Q7187
[ "DFNA2", "DFNA2A", "KV7.4", "potassium voltage-gated channel subfamily Q member 4" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18028844-P2293
P2293
Q18028844
MAN2A2
Q7187
[ "MANA2X", "mannosidase alpha class 2A member 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" ] ]
Q18037139-P2293
P2293
Q18037139
SPECC1L
Q7187
[ "TBHS", "GBBB2", "CYTSA", "OBLFC1" ]
[ "Q29982068" ]
[ "Hypertelorism, Teebi type" ]
[ "Q12136" ]
[ [ "Teebi hypertelorism syndrome", "Teebi syndrome" ] ]
Q18038733-P2293
P2293
Q18038733
BBS9
Q7187
[ "B1", "C18", "D1", "Bardet-Biedl syndrome 9", "PTHB1" ]
[ "Q378183" ]
[ "craniosynostosis" ]
[ "Q12136" ]
[ [ "craniostenosis", "craniosynostosis syndrome", "premature closure of cranial sutures" ] ]
Q18043105-P2293
P2293
Q18043105
ARHGAP31
Q7187
[ "AOS1", "Rho GTPase activating protein 31", "CDGAP" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q407983-P2293
P2293
Q407983
ACHE
Q7187
[ "YT", "ACEE", "acetylhydrolase", "ARACHE", "N-ACHE", "true cholinesterase (dated synonym)" ]
[ "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" ] ]
Q18051803-P2293
P2293
Q18051803
DPY19L3
Q7187
[]
[ "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" ] ]
Q18033112-P2293
P2293
Q18033112
KMO
Q7187
[ "dJ317G22.1" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18037036-P2293
P2293
Q18037036
OTUD3
Q7187
[ "OTU deubiquitinase 3", "DUBA4" ]
[ "Q1477" ]
[ "ulcerative colitis" ]
[ "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ] ]
Q18029013-P2293
P2293
Q18029013
MEIS1
Q7187
[ "Meis homeobox 1" ]
[ "Q916280" ]
[ "restless legs syndrome" ]
[ "Q12136" ]
[ [ "WED", "RLS", "Restless Leg Syndrome", "Willis-Ekbom disease", "Wittmaack-Ekbom syndrome" ] ]
Q18034037-P2293
P2293
Q18034037
NRXN3
Q7187
[ "C14orf60", "neurexin 3" ]
[ "Q12174", "Q206901" ]
[ "obesity", "amyotrophic lateral sclerosis" ]
[ "Q12136", "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ], [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18028496-P2293
P2293
Q18028496
LCT
Q7187
[ "LAC", "LPH", "lactase", "LPH1" ]
[ "Q3043135" ]
[ "congenital lactase deficiency" ]
[ "Q12136" ]
[ [ "CLD", "Alactasia, Congenital", "COLACD", "congenital alactasia", "Disaccharide Intolerance 2" ] ]
Q18034943-P2293
P2293
Q18034943
AKT3
Q7187
[ "RAC-PK-gamma", "MPPH", "MPPH2", "PKB-GAMMA", "PKBG", "PRKBG", "RAC-gamma", "STK-2" ]
[ "Q202387" ]
[ "post-traumatic stress disorder" ]
[ "Q12136" ]
[ [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ] ]
Q21163221-P2293
P2293
Q21163221
INS
Q7187
[ "insulin", "IDDM2", "IDDM", "ILPR", "IDDM1", "IRDN", "MODY10", "PNDM4" ]
[ "Q17143640", "Q55785854" ]
[ "permanent neonatal diabetes mellitus", "rare genetic diabetes mellitus" ]
[ "Q12136", "Q12136" ]
[ [ "Monogenic diabetes of infancy", "PDMI", "permanent diabetes mellitus of infancy", "PNDM" ], [] ]
Q20970130-P2293
P2293
Q20970130
SP4
Q7187
[ "Sp4 transcription factor", "SPR-1", "HF1B" ]
[ "Q42844", "Q55950055" ]
[ "major depressive disorders", "unipolar depression" ]
[ "Q12136", "Q12136" ]
[ [ "MDD", "depression", "clinical depression", "major depression", "major depression disorder", "recurrent depressive disorder", "recurrent major depression", "recurrent major depression in complete remission", "single major depressive episode", "unipolar depression", "unipolar disorder" ], [ "Major Depression" ] ]