uuid
stringlengths
9
16
predicate_id
stringclasses
5 values
sub_uri
stringlengths
3
10
sub_label
stringlengths
2
46
sub_type
stringclasses
6 values
sub_aliases
sequencelengths
0
556
obj_uris
sequencelengths
1
95
obj_labels
sequencelengths
1
95
obj_types
sequencelengths
1
95
obj_aliases
sequencelengths
1
95
Q18049078-P2293
P2293
Q18049078
MYSM1
Q7187
[ "2A-DUB", "2ADUB", "BMFS4" ]
[ "Q631361" ]
[ "diabetic retinopathy" ]
[ "Q12136" ]
[ [ "diabetic eye disease", "diabetic oculopathy", "retinal abnormality - diabetes-related" ] ]
Q18035072-P2293
P2293
Q18035072
MBNL2
Q7187
[ "MBLL", "MBLL39", "muscleblind like splicing regulator 2", "PRO2032" ]
[ "Q7331102" ]
[ "alcohol abuse" ]
[ "Q12136" ]
[ [ "alcohol use disorder", "ethanol abuse", "harmful use of alcohol" ] ]
Q18028586-P2293
P2293
Q18028586
FADS1
Q7187
[ "fatty acid desaturase 1", "FADS6", "D5D", "FADSD5", "LLCDL1", "TU12" ]
[ "Q2351083" ]
[ "metabolic disease" ]
[ "Q12136" ]
[ [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18049053-P2293
P2293
Q18049053
CSMD2
Q7187
[ "CUB and Sushi multiple domains 2", "dJ1007G16.1", "dJ1007G16.2", "dJ947L8.1" ]
[ "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" ] ]
Q17853626-P2293
P2293
Q17853626
BST1
Q7187
[ "bone marrow stromal cell antigen 1", "CD157" ]
[ "Q11085" ]
[ "Parkinson's disease" ]
[ "Q12136" ]
[ [ "Parkinson disease", "paralysis agitans", "parkinsonismus idiopathicus" ] ]
Q18041305-P2293
P2293
Q18041305
SIDT1
Q7187
[ "B830021E24Rik", "SID-1", "SID1", "SID1 transmembrane family member 1" ]
[ "Q133772" ]
[ "dental caries" ]
[ "Q12136" ]
[ [ "cavities", "dental caries extending into pulp", "dental caries of smooth surface", "dental caries pit and fissure", "tooth decay" ] ]
Q18043075-P2293
P2293
Q18043075
RNF150
Q7187
[ "ring finger protein 150" ]
[ "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" ] ]
Q18026193-P2293
P2293
Q18026193
GM2A
Q7187
[ "GM2 ganglioside activator", "GM2-AP", "SAP-3" ]
[ "Q5513688" ]
[ "Tay-Sachs disease AB variant" ]
[ "Q12136" ]
[ [ "Gm2 Activator Deficiency", "GM2 gangliosidosis, AB variant", "GM2-gangliosidosis variant AB", "Hexosaminidase activator deficiency", "Tay-Sachs disease, variant AB" ] ]
Q18040371-P2293
P2293
Q18040371
ZC3HC1
Q7187
[ "NIPA", "HSPC216", "zinc finger C3HC-type containing 1" ]
[ "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" ] ]
Q18032010-P2293
P2293
Q18032010
TLL1
Q7187
[ "ASD6", "tolloid like 1" ]
[ "Q8277", "Q202387" ]
[ "multiple sclerosis", "post-traumatic stress disorder" ]
[ "Q12136", "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ] ]
Q18053861-P2293
P2293
Q18053861
WDR72
Q7187
[ "AI2A3", "WD repeat domain 72" ]
[ "Q1054718" ]
[ "kidney disease" ]
[ "Q12136" ]
[ [ "renal disease", "disease of kidney", "disorder of kidney", "kidney damage", "kidney diseases", "kidney injury", "kidney necrosis", "nephron damage", "nephropathy" ] ]
Q18036729-P2293
P2293
Q18036729
RAP1GAP2
Q7187
[ "RAP1 GTPase activating protein 2", "GARNL4", "RAP1GA3" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q17816452-P2293
P2293
Q17816452
AKT1
Q7187
[ "PKB", "RAC", "CWS6", "PKB-ALPHA", "PRKBA", "RAC-ALPHA" ]
[ "Q128581", "Q188874", "Q281115", "Q1138188" ]
[ "breast cancer", "colorectal cancer", "Proteus syndrome", "Cowden syndrome 1" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "breast disorder", "malignant neoplasm of breast", "malignant tumor of the breast", "mammary cancer", "primary breast cancer" ], [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ], [ "Elattoproteus Syndrome", "Wiedemann's syndrome" ], [ "Lhermitte-Duclos disease", "Multiple hamartoma syndrome", "Cowden's disease", "Cowden disease" ] ]
Q18031521-P2293
P2293
Q18031521
SLC1A2
Q7187
[ "EAAT2", "EIEE41", "GLT-1", "HBGT", "solute carrier family 1 member 2" ]
[ "Q693519" ]
[ "essential tremor" ]
[ "Q12136" ]
[ [ "ET", "benign essential tremor", "benign tremor", "essential hereditary tremor", "familiar tremor", "shaky hand syndrome" ] ]
Q18051437-P2293
P2293
Q18051437
OTOA
Q7187
[ "CT108", "DFNB22", "otoancorin" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18046751-P2293
P2293
Q18046751
THSD7B
Q7187
[]
[ "Q1549421", "Q3658562" ]
[ "tooth agenesis", "non-small-cell lung carcinoma" ]
[ "Q12136", "Q12136" ]
[ [ "selective tooth agenesis", "familial tooth agenesis", "hypodontia", "oligodontia" ], [ "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" ] ]
Q14908148-P2293
P2293
Q14908148
EPB41
Q7187
[ "HE", "4.1R", "EL1" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18032340-P2293
P2293
Q18032340
VSNL1
Q7187
[ "HLP3", "HPCAL3", "HUVISL1", "VILIP", "VILIP-1", "visinin like 1" ]
[ "Q11081" ]
[ "Alzheimer's disease" ]
[ "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ] ]
Q14911717-P2293
P2293
Q14911717
MSH6
Q7187
[ "GTBP", "GTMBP", "HNPCC5", "HSAP", "mutS homolog 6", "p160" ]
[ "Q188874", "Q736633", "Q783644" ]
[ "colorectal cancer", "Mismatch repair cancer syndrome", "Lynch syndrome" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ], [ "Btp1 Syndrome", "Childhood Cancer Syndrome", "CMMR-D", "CMMR-D syndrome", "Mismatch Repair Deficiency", "Mmr Deficiency", "MMRCS", "Turcot syndrome" ], [ "HNPCC", "COCA 1", "hereditary nonpolyposis colon cancer", "hereditary nonpolyposis colorectal cancer" ] ]
Q18033452-P2293
P2293
Q18033452
INPP4B
Q7187
[]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q18043159-P2293
P2293
Q18043159
DOCK6
Q7187
[ "AOS2", "dedicator of cytokinesis 6", "ZIR1" ]
[ "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" ] ]
Q18030852-P2293
P2293
Q18030852
PSMA4
Q7187
[ "proteasome subunit alpha 4", "HC9", "HsT17706", "proteasome 20S subunit alpha 4", "PSC9" ]
[ "Q187255" ]
[ "rheumatoid arthritis" ]
[ "Q12136" ]
[ [ "atrophic Arthritis", "Malignant rheumatoid arthritis" ] ]
Q18046775-P2293
P2293
Q18046775
NDFIP1
Q7187
[ "N4WBP5", "Nedd4 family interacting protein 1" ]
[ "Q8277" ]
[ "multiple sclerosis" ]
[ "Q12136" ]
[ [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ] ]
Q18032004-P2293
P2293
Q18032004
TKT
Q7187
[ "transketolase", "HEL-S-48", "HEL107", "SDDHD", "TKT1" ]
[ "Q55785079" ]
[ "transketolase deficiency" ]
[ "Q12136" ]
[ [ "TKT deficiency" ] ]
Q5145894-P2293
P2293
Q5145894
COL11A1
Q7187
[ "CO11A1", "COLL6", "collagen type XI alpha 1", "collagen type XI alpha 1 chain", "collagen, type XI, alpha 1", "DFNA37", "STL2" ]
[ "Q3071315", "Q6773846", "Q12640426" ]
[ "fibrochondrogenesis", "Marshall syndrome", "primary open angle glaucoma" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "FBCG1", "Fibrochondrogenesis type 1" ], [ "MRSHS" ], [ "chronic simple glaucoma" ] ]
Q18037778-P2293
P2293
Q18037778
INTS7
Q7187
[ "integrator complex subunit 7", "C1orf73", "INT7" ]
[ "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" ] ]
Q14890468-P2293
P2293
Q14890468
APOE
Q7187
[ "AD2", "apolipoprotein E", "LDLCQ5", "LPG", "ApoE4" ]
[ "Q11081", "Q431643", "Q18556319" ]
[ "Alzheimer's disease", "microcephaly", "sea-blue histiocyte syndrome" ]
[ "Q12136", "Q12136", "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ], [ "Microcephalus", "microencephaly" ], [ "Histiocytosis, Sea-Blue", "Sea-Blue Histiocytosis" ] ]
Q18032890-P2293
P2293
Q18032890
PLA2G6
Q7187
[ "GVI", "PNPLA9", "PARK14", "INAD1", "iPLA2", "iPLA2beta", "CaI-PLA2", "IPLA2-VIA", "NBIA2", "NBIA2A", "NBIA2B", "phospholipase A2 group VI" ]
[ "Q180614" ]
[ "melanoma" ]
[ "Q12136" ]
[ [ "malignant melanoma", "Naevocarcinom", "Naevocarcinoma" ] ]
Q3195074-P2293
P2293
Q3195074
GCDH
Q7187
[ "ACAD5" ]
[ "Q2140501" ]
[ "glutaric aciduria type 1" ]
[ "Q12136" ]
[ [ "GA1", "Ga 1", "GCDHD", "glutaric academia type 1", "glutaric acidemia I", "GLUTARIC ACIDEMIA I", "glutaric acidemia type 1", "glutaric aciduria 1", "Glutaric Aciduria 1", "glutaric aciduria type I" ] ]
Q18035049-P2293
P2293
Q18035049
RASGRP1
Q7187
[ "CALDAG-GEFI", "CALDAG-GEFII", "hRasGRP1", "IMD64", "RAS guanyl releasing protein 1" ]
[ "Q124407", "Q187255", "Q3025883" ]
[ "type-1 diabetes", "rheumatoid arthritis", "type 2 diabetes" ]
[ "Q12136", "Q12136", "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" ], [ "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" ] ]
Q18038769-P2293
P2293
Q18038769
ZNF544
Q7187
[ "zinc finger protein 544" ]
[ "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" ] ]
Q14907256-P2293
P2293
Q14907256
SDHA
Q7187
[ "FP", "SDH2", "SDHF", "SDH1", "CMD1GG", "PGL5" ]
[ "Q23542368" ]
[ "mitochondrial complex II deficiency" ]
[ "Q12136" ]
[ [ "Complex 2 mitochondrial respiratory chain deficiency", "isolated mitochondrial respiratory chain complex II deficiency", "Mitochondrial respiratory chain complex II deficiency", "Succinate Coq Reductase Deficiency", "Succinate dehydrogenase deficiency" ] ]
Q18026947-P2293
P2293
Q18026947
HLA-DQA1
Q7187
[ "CD", "GSE", "CELIAC1" ]
[ "Q1485", "Q11088", "Q35869", "Q1088156" ]
[ "systemic lupus erythematosus", "coeliac disease", "asthma", "chronic lymphocytic leukemia" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ], [ "celiac disease", "celiac sprue", "endemic sprue", "gluten enteropathy", "idiopathic steatorrhea", "nontropical sprue" ], [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ], [ "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" ] ]
Q18048560-P2293
P2293
Q18048560
ZNF804A
Q7187
[ "zinc finger protein 804A", "C2orf10" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18034698-P2293
P2293
Q18034698
GIT2
Q7187
[ "CAT-2", "CAT2", "GIT ArfGAP 2", "PKL" ]
[ "Q2351083" ]
[ "metabolic disease" ]
[ "Q12136" ]
[ [ "metabolic disorder", "disease of metabolism", "disorder of metabolic process", "metabolic diseases", "metabolic illness" ] ]
Q18046243-P2293
P2293
Q18046243
DYNC2H1
Q7187
[ "ATD3", "SRPS2B", "SRTD3", "DHC1b", "DHC2", "DNCH2", "DYH1B", "hdhc11" ]
[ "Q12204" ]
[ "tuberculosis" ]
[ "Q12136" ]
[ [ "TB", "consumption", "hydrothorax", "In the clinic. Tuberculosis", "phthisis", "phthisis pulmonalis" ] ]
Q18054393-P2293
P2293
Q18054393
RNF149
Q7187
[ "ring finger protein 149", "DNAPTP2" ]
[ "Q212961" ]
[ "pancreatic cancer" ]
[ "Q12136" ]
[ [ "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas" ] ]
Q18061320-P2293
P2293
Q18061320
FAM155A
Q7187
[ "family with sequence similarity 155 member A" ]
[ "Q131749" ]
[ "anorexia nervosa" ]
[ "Q12136" ]
[ [ "anorexia nerviosa", "size 0" ] ]
Q18030602-P2293
P2293
Q18030602
PLS3
Q7187
[ "BMND18", "T-plastin", "plastin 3" ]
[ "Q165328" ]
[ "osteoporosis" ]
[ "Q12136" ]
[ [ "bone loss" ] ]
Q18034873-P2293
P2293
Q18034873
RABGAP1L
Q7187
[ "HHL", "RAB GTPase activating protein 1 like", "TBC1D18" ]
[ "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" ] ]
Q18037642-P2293
P2293
Q18037642
BRD1
Q7187
[ "BRL", "bromodomain containing 1", "BRPF1", "BRPF2" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q18056631-P2293
P2293
Q18056631
GRXCR1
Q7187
[ "DFNB25", "PPP1R88" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18026487-P2293
P2293
Q18026487
GRIA4
Q7187
[ "GluA4", "GLUR4", "GLUR4C", "GLURD", "NEDSGA" ]
[ "Q470427" ]
[ "refractive error" ]
[ "Q12136" ]
[ [ "refraction or accommodation disorder", "Abnormality of refraction", "ametropia", "disorder of refraction", "eye refraction disorder", "refraction error", "refractive disorder", "Refractive errors" ] ]
Q18027872-P2293
P2293
Q18027872
IL12B
Q7187
[ "CLMF", "IMD28", "NKSF2", "CLMF2", "IMD29", "Interleukin 12 subunit beta", "interleukin 12B", "NKSF" ]
[ "Q179945" ]
[ "psoriasis" ]
[ "Q12136" ]
[ [] ]
Q14860336-P2293
P2293
Q14860336
NSF
Q7187
[ "SEC18", "N-ethylmaleimide sensitive factor", "SKD2" ]
[ "Q11085" ]
[ "Parkinson's disease" ]
[ "Q12136" ]
[ [ "Parkinson disease", "paralysis agitans", "parkinsonismus idiopathicus" ] ]
Q15330556-P2293
P2293
Q15330556
GJA1
Q7187
[ "HSS", "AVSD3", "CMDR", "CX43", "EKVP", "EKVP3", "gap junction protein alpha 1", "GJAL", "HLHS1", "ODDD", "PPKCA" ]
[ "Q17148148" ]
[ "odontoonychodermal syndrome" ]
[ "Q12136" ]
[ [ "OODD syndrome" ] ]
Q18032353-P2293
P2293
Q18032353
WFS1
Q7187
[ "CTRCT41", "WFSL", "WFRS" ]
[ "Q1153641", "Q3025883" ]
[ "Wolfram syndrome", "type 2 diabetes" ]
[ "Q12136", "Q12136" ]
[ [ "DIDMOAD", "WFS", "DIDMOAD syndrome" ], [ "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" ] ]
Q14914217-P2293
P2293
Q14914217
SRR
Q7187
[ "ISO1", "serine racemase", "ILV1" ]
[ "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" ] ]
Q18030942-P2293
P2293
Q18030942
PTPRF
Q7187
[ "LAR", "BNAH2" ]
[ "Q206901" ]
[ "amyotrophic lateral sclerosis" ]
[ "Q12136" ]
[ [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ] ]
Q4654809-P2293
P2293
Q4654809
ATP2B1
Q7187
[ "ATPase plasma membrane Ca2+ transporting 1", "PMCA1", "PMCA1kb" ]
[ "Q41861", "Q844935" ]
[ "arterial hypertension", "coronary artery disease" ]
[ "Q12136", "Q12136" ]
[ [ "\"the silent killer\"", "high blood pressure" ], [ "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" ] ]
Q14907505-P2293
P2293
Q14907505
CD80
Q7187
[ "BB1", "B7", "B7-1", "B7.1", "CD28LG", "CD28LG1", "CD80 molecule", "LAB7" ]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q17832572-P2293
P2293
Q17832572
ZFHX3
Q7187
[ "ATBF1", "ATBT", "zinc finger homeobox 3", "ZNF927" ]
[ "Q12202", "Q265936", "Q844935", "Q3010352" ]
[ "stroke", "Kawasaki disease", "coronary artery disease", "cerebrovascular disease" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "CVA", "cerebrovascular accident", "cerebrovascular disorder", "brain attack", "cerebral vascular accident", "cerebrovascular insult", "CVI", "embolic stroke" ], [ "Kd", "Kawasaki's disease", "acute febrile MCLS", "Infantile Polyarteritis", "Infantile Polyarteritis Nodosa", "Kawasaki disease, KD", "MLNS", "mucocutaneous lymph node syndrome" ], [ "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" ], [ "CVA", "cerebrovascular accident", "Cerebrovascular accident (disorder)", "cerebrovascular disorder", "cerebrovascular disorders", "CVA (cerebral vascular accident)" ] ]
Q18047679-P2293
P2293
Q18047679
KIRREL3
Q7187
[ "MRD4", "Kin of IRRE-like protein 3", "NEPH2", "PRO4502" ]
[ "Q181923", "Q596474" ]
[ "attention deficit hyperactivity disorder", "conduct disorder" ]
[ "Q12136", "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" ], [ "disruptive behavior disorder" ] ]
Q18037086-P2293
P2293
Q18037086
CUX2
Q7187
[ "CDP2", "cut like homeobox 2", "CUTL2", "EIEE67" ]
[ "Q124407", "Q844935" ]
[ "type-1 diabetes", "coronary artery disease" ]
[ "Q12136", "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" ], [ "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" ] ]
Q21163344-P2293
P2293
Q21163344
ABCB1
Q7187
[ "CLCS", "MDR1", "ATP binding cassette subfamily B member 1", "PGY1", "ABC20", "CD243", "GP170", "P-GP" ]
[ "Q32144400" ]
[ "inflammatory bowel disease 13" ]
[ "Q12136" ]
[ [ "IBD13", "Inflammatory Bowel Disease type 13" ] ]
Q18051076-P2293
P2293
Q18051076
PSMA8
Q7187
[ "proteasome subunit alpha 8", "proteasome 20S subunit alpha 8", "PSMA7L" ]
[ "Q520127" ]
[ "periodontitis" ]
[ "Q12136" ]
[ [ "chronic pericementitis", "periodontium inflammation", "periodontiumitis", "pyorrhea" ] ]
Q18046549-P2293
P2293
Q18046549
SEMA6D
Q7187
[ "semaphorin 6D" ]
[ "Q373822", "Q844935" ]
[ "eating disorder", "coronary artery disease" ]
[ "Q12136", "Q12136" ]
[ [ "ED", "feeding and eating disorders", "feeding disorder" ], [ "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" ] ]
Q18033398-P2293
P2293
Q18033398
PEX11B
Q7187
[ "peroxisomal biogenesis factor 11 beta", "PEX14B", "PEX11-BETA" ]
[ "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" ] ]
Q18030218-P2293
P2293
Q18030218
NRF1
Q7187
[ "ALPHA-PAL", "nuclear respiratory factor 1" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q14864162-P2293
P2293
Q14864162
KRT3
Q7187
[ "K3", "CK3", "keratin 3", "MECD2" ]
[ "Q4162392" ]
[ "Meesmann corneal dystrophy" ]
[ "Q12136" ]
[ [ "MECD", "juvenile hereditary epithelial dystrophy", "Meesman dystrophy", "Stocker-Holt dystrophy" ] ]
Q18028607-P2293
P2293
Q18028607
LMO1
Q7187
[ "TTG1", "LIM domain only 1", "RBTN1", "RHOM1" ]
[ "Q938205", "Q7331102" ]
[ "neuroblastoma", "alcohol abuse" ]
[ "Q12136", "Q12136" ]
[ [ "NB" ], [ "alcohol use disorder", "ethanol abuse", "harmful use of alcohol" ] ]
Q18027370-P2293
P2293
Q18027370
IGSF3
Q7187
[ "V8", "EWI-3", "LCDD" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q18030967-P2293
P2293
Q18030967
NECTIN2
Q7187
[ "nectin cell adhesion molecule 2", "PRR2", "CD112", "HVEB", "PVRL2", "PVRR2" ]
[ "Q11081", "Q830308" ]
[ "Alzheimer's disease", "age related macular degeneration" ]
[ "Q12136", "Q12136" ]
[ [ "AD", "Alzheimer dementia", "Alzheimer disease", "Alzheimer disease, familial", "Alzheimer's dementia", "Alzheimers dementia" ], [ "AMD", "Age Related Maculopathies", "Age Related Maculopathy", "age-related macular degeneration", "senile macular degeneration" ] ]
Q18026941-P2293
P2293
Q18026941
HLA-DPB1
Q7187
[ "HLA-DP1B" ]
[ "Q6853" ]
[ "hepatitis B" ]
[ "Q12136" ]
[ [ "hepatitis B infection", "hepatitis type B", "serum hepatitis", "Viral Hepatitis B" ] ]
Q18028073-P2293
P2293
Q18028073
ITPR1
Q7187
[ "ACV", "CLA4", "INSP3R1", "IP3R", "IP3R1", "PPP1R94", "SCA15", "SCA16", "SCA29" ]
[ "Q12174", "Q5562120" ]
[ "obesity", "Gillespie syndrome" ]
[ "Q12136", "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ], [] ]
Q18030335-P2293
P2293
Q18030335
PCSK6
Q7187
[ "PACE4", "SPC4" ]
[ "Q132971" ]
[ "dyslexia" ]
[ "Q12136" ]
[ [ "reading/writing disorder" ] ]
Q18016430-P2293
P2293
Q18016430
ALOX12
Q7187
[ "12-LOX", "12S-LOX", "LOG12" ]
[ "Q188874" ]
[ "colorectal cancer" ]
[ "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ] ]
Q18035148-P2293
P2293
Q18035148
RASGRP2
Q7187
[ "CALDAG-GEFI", "RAS guanyl releasing protein 2", "CDC25L" ]
[ "Q32146531" ]
[ "platelet-type bleeding disorder 18" ]
[ "Q12136" ]
[ [ "BDPLT18" ] ]
Q18051831-P2293
P2293
Q18051831
SYT6
Q7187
[ "sytVI", "synaptotagmin 6" ]
[ "Q128581" ]
[ "breast cancer" ]
[ "Q12136" ]
[ [ "breast disorder", "malignant neoplasm of breast", "malignant tumor of the breast", "mammary cancer", "primary breast cancer" ] ]
Q4050587-P2293
P2293
Q4050587
TICAM1
Q7187
[ "IIAE6", "MyD88-3", "PRVTIRB", "toll like receptor adaptor molecule 1", "TRIF" ]
[ "Q180152" ]
[ "vitiligo" ]
[ "Q12136" ]
[ [ "leukoderma", "leucoderma" ] ]
Q17914420-P2293
P2293
Q17914420
DPP6
Q7187
[ "DPPX", "DPL1", "MRD33", "dipeptidyl peptidase like 6", "VF2" ]
[ "Q188874", "Q202387", "Q206901", "Q212961" ]
[ "colorectal cancer", "post-traumatic stress disorder", "amyotrophic lateral sclerosis", "pancreatic cancer" ]
[ "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "bowel cancer", "colon and rectal cancer", "colon cancer", "Colorectal cancer, familial", "large intestine cancer" ], [ "PTSD", "battle fatigue", "post traumatic stress disorder", "shell shock", "shellshock", "thousand-mile stare", "traumatic neurosis" ], [ "ALS", "Charcot disease", "Lou Gehrig disease", "Lou Gehrig's disease", "motor neuron disease, bulbar" ], [ "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas" ] ]
Q18040030-P2293
P2293
Q18040030
PHF11
Q7187
[ "BCAP", "PHD finger protein 11", "APY", "IGEL", "IGER", "IGHER", "NY-REN-34", "NYREN34" ]
[ "Q1364270" ]
[ "hypertrophic cardiomyopathy" ]
[ "Q12136" ]
[ [ "HCM", "Cardiomyopathy, Hypertrophic", "hypertrophic heart disease" ] ]
Q18042335-P2293
P2293
Q18042335
BTNL2
Q7187
[ "SS2", "BTL-II", "BTN7", "butyrophilin like 2", "HSBLMHC1" ]
[ "Q1477", "Q8277", "Q147778", "Q154869", "Q193894", "Q843799" ]
[ "ulcerative colitis", "multiple sclerosis", "liver cirrhosis", "hepatitis C", "sarcoidosis", "adenocarcinoma of the lung" ]
[ "Q12136", "Q12136", "Q12136", "Q12136", "Q12136", "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ], [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "cirrhosis of liver", "cirrhosis of the liver" ], [ "Viral hepatitis C", "chronic hepatitis C", "hep C", "hepatitis C infection", "hepatitis nonA nonB", "hepatitis type C", "NANBH", "Non-A, Non-B Hepatitis" ], [ "benign lymphogranulomatosis", "Boeck sarcoid", "lymphogranulomatosis" ], [ "bronchogenic lung adenocarcinoma", "lung adenocarcinoma", "non-small cell lung adenocarcinoma", "nonsmall cell adenocarcinoma", "pulmonary adenocarcinoma" ] ]
Q17928401-P2293
P2293
Q17928401
FHL1
Q7187
[ "four and a half LIM domains 1", "SLIM1", "SLIM", "KYOT", "SLIM-1", "SLIMMER", "FCMSU", "FHL1A", "FHL1B", "FLH1A", "RBMX1A", "RBMX1B", "XMPMA" ]
[ "Q21505518" ]
[ "reducing body myopathy" ]
[ "Q12136" ]
[ [ "reducing body myopathy 1A" ] ]
Q18027833-P2293
P2293
Q18027833
IL5RA
Q7187
[ "CD125", "CDw125", "HSIL5R3", "Interleukin 5 receptor alpha subunit", "interleukin 5 receptor subunit alpha" ]
[ "Q12214" ]
[ "smallpox" ]
[ "Q12136" ]
[ [ "ordinary smallpox", "variola", "variola vera" ] ]
Q18041001-P2293
P2293
Q18041001
SEMA5B
Q7187
[ "semaphorin 5B", "SemG", "SEMAG" ]
[ "Q372701" ]
[ "esophageal cancer" ]
[ "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" ] ]
Q5514164-P2293
P2293
Q5514164
GPD1L
Q7187
[]
[ "Q27677683" ]
[ "Brugada syndrome 2" ]
[ "Q12136" ]
[ [ "BRGDA2", "Brugada Syndrome type 2" ] ]
Q18034662-P2293
P2293
Q18034662
EIF4A3
Q7187
[ "eIF4A-III", "RCPS", "eukaryotic translation initiation factor 4A3", "eIF-4A-III", "eIF4AIII", "DDX48", "Fal1", "MUK34", "NMP265", "NUK34" ]
[ "Q55782295" ]
[ "Richieri Costa-Pereira syndrome" ]
[ "Q12136" ]
[ [ "Richieri Costa Pereira syndrome", "Richieri-Costa-Pereira Syndrome" ] ]
Q18037250-P2293
P2293
Q18037250
TNPO3
Q7187
[ "transportin 3", "LGMD1F", "TRN-SR", "IPO12", "LGMDD2", "MTR10A", "TRN-SR2", "TRNSR" ]
[ "Q1485" ]
[ "systemic lupus erythematosus" ]
[ "Q12136" ]
[ [ "SLE", "Lupus Erythematosus, systemic" ] ]
Q18046278-P2293
P2293
Q18046278
ZMAT4
Q7187
[ "zinc finger matrin-type 4" ]
[ "Q470427" ]
[ "refractive error" ]
[ "Q12136" ]
[ [ "refraction or accommodation disorder", "Abnormality of refraction", "ametropia", "disorder of refraction", "eye refraction disorder", "refraction error", "refractive disorder", "Refractive errors" ] ]
Q18031809-P2293
P2293
Q18031809
SYT1
Q7187
[ "P65", "synaptotagmin 1", "BAGOS", "SVP65" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q14907462-P2293
P2293
Q14907462
SLC26A4
Q7187
[ "PDS", "EVA", "DFNB4", "solute carrier family 26 member 4", "TDH2B" ]
[ "Q7331102" ]
[ "alcohol abuse" ]
[ "Q12136" ]
[ [ "alcohol use disorder", "ethanol abuse", "harmful use of alcohol" ] ]
Q14914108-P2293
P2293
Q14914108
CIITA
Q7187
[ "C2TA", "CIITAIV", "MHC2TA", "NLRA" ]
[ "Q1477" ]
[ "ulcerative colitis" ]
[ "Q12136" ]
[ [ "UC", "Colitis Ulcerative", "hemorrhagic colitis", "left-sided ulcerative colitis" ] ]
Q18047238-P2293
P2293
Q18047238
TRAPPC9
Q7187
[ "T1", "IBP", "trafficking protein particle complex 9", "TRS120", "IKBKBBP", "MRT13", "NIBP" ]
[ "Q12174" ]
[ "obesity" ]
[ "Q12136" ]
[ [ "overweight", "corpulence", "fatness", "over-weight", "overfatness" ] ]
Q18029145-P2293
P2293
Q18029145
MKLN1
Q7187
[ "muskelin 1", "TWA2" ]
[ "Q35869" ]
[ "asthma" ]
[ "Q12136" ]
[ [ "exercise-induced asthma", "Exercise induced asthma", "asthma brionchiole", "bronchial hyperreactivity", "chronic obstructive asthma" ] ]
Q18047600-P2293
P2293
Q18047600
HHIPL1
Q7187
[ "HHIP like 1", "KIAA1822", "UNQ9245" ]
[ "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" ] ]
Q18041883-P2293
P2293
Q18041883
ITLN1
Q7187
[ "HL-1", "HL1", "LFR", "hIntL", "intelectin 1", "INTL", "omentin" ]
[ "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" ] ]
Q14905618-P2293
P2293
Q14905618
NLRP3
Q7187
[ "MWS", "AII", "KEFH", "AVP", "NLR family, pyrin domain containing 3", "DFNA34", "FCU", "AGTAVPRL", "FCAS", "NALP3", "CLR1.1", "NLR family pyrin domain containing 3", "C1orf7", "CIAS1", "FCAS1", "PYPAF1" ]
[ "Q779203" ]
[ "CINCA syndrome" ]
[ "Q12136" ]
[ [ "CINCA/NOMID", "cryopyrin-associated periodic syndrome 3", "infantile-onset multisystem inflammatory disease", "IOMID syndrome", "NOMID", "NOMID syndrome", "Prieur-Griscelli syndrome" ] ]
Q18030866-P2293
P2293
Q18030866
PSMB10
Q7187
[ "proteasome subunit beta 10", "beta2i", "LMP10", "MECL1", "proteasome 20S subunit beta 10" ]
[ "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" ] ]
Q18041050-P2293
P2293
Q18041050
TMCO1
Q7187
[ "HP10122", "PCIA3", "PNAS-136", "TMCC4" ]
[ "Q55629168" ]
[ "Pascual-Castroviejo syndrome" ]
[ "Q12136" ]
[ [ "CFSMR" ] ]
Q18048865-P2293
P2293
Q18048865
IL17F
Q7187
[ "ML-1", "ML1", "interleukin 17F", "CANDF6" ]
[ "Q212961" ]
[ "pancreatic cancer" ]
[ "Q12136" ]
[ [ "Ca body of pancreas", "Ca head of pancreas", "Ca tail of pancreas" ] ]
Q18037581-P2293
P2293
Q18037581
SMPX
Q7187
[ "Csl", "small muscle protein, X-linked", "Chisel", "DFN6", "DFNX4", "small muscle protein X-linked" ]
[ "Q9079046" ]
[ "nonsyndromic deafness" ]
[ "Q12136" ]
[ [ "Familial deafness", "Isolated genetic deafness", "Non-syndromic genetic deafness", "nonsyndromic hearing loss", "nonsyndromic hereditary hearing loss" ] ]
Q18031891-P2293
P2293
Q18031891
TRB
Q7187
[ "TCRB", "T cell receptor beta locus", "T-cell receptor beta locus" ]
[ "Q189561" ]
[ "narcolepsy" ]
[ "Q12136" ]
[ [ "Narcolepsy, without cataplexy", "paroxysmal sleep" ] ]
Q18040145-P2293
P2293
Q18040145
BET1L
Q7187
[ "BET1L1", "GOLIM3", "GS15", "HSPC197" ]
[ "Q1198391" ]
[ "intracranial aneurysm" ]
[ "Q12136" ]
[ [ "brain aneurysm", "Cerebral aneurysm" ] ]
Q18041534-P2293
P2293
Q18041534
KIF26B
Q7187
[ "kinesin family member 26B" ]
[ "Q41112" ]
[ "schizophrenia" ]
[ "Q12136" ]
[ [ "schizophrenia-1", "dementia praecox", "Kraepelin-Morel disease", "Morel-Kraepelin disease" ] ]
Q17916838-P2293
P2293
Q17916838
EPAS1
Q7187
[ "bHLHe73", "ECYT4", "endothelial PAS domain protein 1", "HIF2A", "HLF", "MOP2", "PASD2" ]
[ "Q1164529" ]
[ "renal cell carcinoma" ]
[ "Q12136" ]
[ [ "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" ] ]
Q18031287-P2293
P2293
Q18031287
RPS6KA2
Q7187
[ "RSK", "HU-2", "MAPKAPK1C", "p90-RSK3", "p90RSK2", "pp90RSK3", "ribosomal protein S6 kinase A2", "RSK3", "S6K-alpha", "S6K-alpha2" ]
[ "Q133772" ]
[ "dental caries" ]
[ "Q12136" ]
[ [ "cavities", "dental caries extending into pulp", "dental caries of smooth surface", "dental caries pit and fissure", "tooth decay" ] ]
Q18035328-P2293
P2293
Q18035328
HMG20A
Q7187
[ "high mobility group 20A", "HMGX1", "HMGXB1" ]
[ "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" ] ]
Q18042957-P2293
P2293
Q18042957
ZMIZ1
Q7187
[ "NEDDFSA", "RAI17", "TRAFIP10", "ZIMP10", "zinc finger MIZ-type containing 1", "hZIMP10" ]
[ "Q1472", "Q8277", "Q11088", "Q128581", "Q179945", "Q180152", "Q917447", "Q3025883" ]
[ "Crohn's disease", "multiple sclerosis", "coeliac disease", "breast cancer", "psoriasis", "vitiligo", "inflammatory bowel diseases", "type 2 diabetes" ]
[ "Q12136", "Q12136", "Q12136", "Q12136", "Q12136", "Q12136", "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" ], [ "MS", "disseminated sclerosis", "generalised multiple sclerosis", "generalized multiple sclerosis", "Generalized multiple sclerosis (disorder)", "insular sclerosis", "Multiple sclerosis; MS" ], [ "celiac disease", "celiac sprue", "endemic sprue", "gluten enteropathy", "idiopathic steatorrhea", "nontropical sprue" ], [ "breast disorder", "malignant neoplasm of breast", "malignant tumor of the breast", "mammary cancer", "primary breast cancer" ], [], [ "leukoderma", "leucoderma" ], [ "IBD" ], [ "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" ] ]
Q18030524-P2293
P2293
Q18030524
PHYH
Q7187
[ "LN1", "LNAP1", "PAHX", "PHYH1", "RD" ]
[ "Q177809" ]
[ "adult Refsum disease" ]
[ "Q12136" ]
[ [ "Classic Refsum disease", "Doc 11 (phytanic acid type)", "HMSN 4", "HMSN type IV", "HSMN IV", "Refsum Disease, Adult, 1", "Refsum's disease" ] ]