DISEASES_Summary_GDA_ALL_C0035372,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
DOClass,Disease,DiseaseClass,EvidenceIndexGDA,EvidenceLevelGDA,FirstRef,GENE_SYMBOL,GeneDPI,GeneDSI,GeneFullName,GenePLI,HPOClass,LastRef,NumDiseasesAssociatedToGene,NumGenesDisease,NumPMIDs,NumVariantsAssociatedToGene,NumVariantsDisease,NumVariantsGDA,PathwayIDs,PathwayNames,ProteinClass,ScoreGDA,SemanticType,Type,UnitProt,diseaseUMLSCUI,geneEnsemblIDs,geneNcbiID,geneNcbiType,numCTs,numberChemsIncludedInEvidence,numberPmidsWithChemsIncludedInEvidence
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.938844847112118,,1966,MECP2,0.96,0.41,methyl-CpG binding protein 2,,,2024,820,221,883,761,574,561,"R-HSA-1643685,R-HSA-74160","Disease,Gene expression (Transcription)",Epigenetic regulator,1,Disease or Syndrome (T047),disease,"Q59FJ6,P51608,D3YJ43,A0A140VKC4",C0035372,ENSG00000169057,4204,protein-coding,3,9,9
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.884615384615385,,1993,CDKL5,0.83,0.51,cyclin dependent kinase like 5,,,2021,302,221,26,525,574,2,,,Kinase,0.85,Disease or Syndrome (T047),disease,O76039,C0035372,ENSG00000008086,6792,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.857142857142857,,1993,FOXG1,0.87,0.5,forkhead box G1,0.99831,,2024,302,221,21,207,574,1,R-HSA-74160,Gene expression (Transcription),,0.85,Disease or Syndrome (T047),disease,P55316,C0035372,ENSG00000176165,2290,protein-coding,1,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2015,PTPN1,0.91,0.47,protein tyrosine phosphatase non-receptor type 1,1,,2015,292,221,2,19,574,0,"R-HSA-109582,R-HSA-162582,R-HSA-168256,R-HSA-74160,R-HSA-8953897","Hemostasis,Signal Transduction,Immune System,Gene expression (Transcription),Cellular responses to stimuli",,0.65,Disease or Syndrome (T047),disease,"A8K3M3,B4DSN5,P18031",C0035372,ENSG00000196396,5770,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1993,GABBR2,0.96,0.42,gamma-aminobutyric acid type B receptor subunit 2,0.99997,,2017,650,221,4,168,574,1,"R-HSA-112316,R-HSA-162582","Neuronal System,Signal Transduction",G-protein coupled receptor,0.6,Disease or Syndrome (T047),disease,"O75899,H9NIL8",C0035372,ENSG00000136928,9568,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2006,BDNF,0.96,0.32,brain derived neurotrophic factor,0.99974,,2024,1509,221,21,72,574,1,"R-HSA-162582,R-HSA-1643685,R-HSA-74160","Signal Transduction,Disease,Gene expression (Transcription)",Signaling,0.45,Disease or Syndrome (T047),disease,"A0A0E3SU01,P23560",C0035372,ENSG00000176697,627,protein-coding,1,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1991,LOC130068854,0.09,0.9,ATAC-STARR-seq lymphoblastoid silent region 21085,,,2022,3,221,9,0,574,0,,,,0.4,Disease or Syndrome (T047),disease,,C0035372,,130068854,biological-region,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1993,DOK7,0.87,0.57,docking protein 7,2.2571E-14,,1993,171,221,1,310,574,1,,,,0.4,Disease or Syndrome (T047),disease,"A0A1W2PRA3,Q18PE1,Q8N1M3",C0035372,ENSG00000175920,285489,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2009,EGR2,0.87,0.53,early growth response 2,0.9969,,2009,196,221,1,163,574,0,"R-HSA-1266738,R-HSA-162582","Developmental Biology,Signal Transduction",Nucleic acid binding,0.4,Disease or Syndrome (T047),disease,P11161,C0035372,ENSG00000122877,1959,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1993,RHOBTB2,0.74,0.58,Rho related BTB domain containing 2,1.8149E-06,,1993,137,221,1,31,574,1,R-HSA-162582,Signal Transduction,Enzyme modulator,0.4,Disease or Syndrome (T047),disease,Q9BYZ6,C0035372,ENSG00000008853,23221,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1993,MAP2,0.87,0.5,microtubule associated protein 2,1,,1993,226,221,1,9,574,0,,,,0.4,Disease or Syndrome (T047),disease,"P11137,Q6NYC5,A0A024R3Z1",C0035372,ENSG00000078018,4133,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2000,CXXC1,0.65,0.62,CXXC finger protein 1,1,,2023,58,221,14,1,574,0,"R-HSA-74160,R-HSA-8953897","Gene expression (Transcription),Cellular responses to stimuli",,0.35,Disease or Syndrome (T047),disease,Q9P0U4,C0035372,ENSG00000154832,30827,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2012,IGF1,0.96,0.28,insulin like growth factor 1,0.75878,,2023,2192,221,6,149,574,0,"R-HSA-109582,R-HSA-162582,R-HSA-392499","Hemostasis,Signal Transduction,Metabolism of proteins",,0.35,Disease or Syndrome (T047),disease,"Q59GC5,Q5U743,P05019,Q13429",C0035372,ENSG00000017427,3479,protein-coding,2,2,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1997,CSF3R,0.96,0.35,colony stimulating factor 3 receptor,3.4754E-09,,2009,1055,221,3,194,574,0,"R-HSA-1266738,R-HSA-168256","Developmental Biology,Immune System",Signaling,0.3,Disease or Syndrome (T047),disease,Q99062,C0035372,ENSG00000119535,1441,protein-coding,1,1,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1997,CSF1R,0.96,0.34,colony stimulating factor 1 receptor,0.97417,,2009,1311,221,3,138,574,0,"R-HSA-168256,R-HSA-74160","Immune System,Gene expression (Transcription)",Kinase,0.3,Disease or Syndrome (T047),disease,P07333,C0035372,ENSG00000182578,1436,protein-coding,1,1,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1997,CSF1,0.96,0.34,colony stimulating factor 1,0.99999,,2009,1221,221,3,10,574,0,"R-HSA-168256,R-HSA-392499","Immune System,Metabolism of proteins",,0.3,Disease or Syndrome (T047),disease,P09603,C0035372,ENSG00000184371,1435,protein-coding,1,1,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1997,CSF3,0.96,0.3,colony stimulating factor 3,4.8646E-06,,2009,1831,221,3,4,574,0,R-HSA-168256,Immune System,,0.3,Disease or Syndrome (T047),disease,"Q6FH65,Q8N4W3,P09919",C0035372,ENSG00000108342,1440,protein-coding,1,1,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1996,NGF,0.96,0.36,nerve growth factor,0.76805,,2009,995,221,7,96,574,0,R-HSA-162582,Signal Transduction,Signaling,0.25,Disease or Syndrome (T047),disease,"A0A346FYQ1,P01138",C0035372,ENSG00000134259,4803,protein-coding,0,1,1
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2014,HTR7,0.83,0.55,5-hydroxytryptamine receptor 7,0.011218,,2021,147,221,3,8,574,0,R-HSA-162582,Signal Transduction,G-protein coupled receptor,0.25,Disease or Syndrome (T047),disease,P34969,C0035372,ENSG00000148680,3363,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.666666666666667,,2005,AR,0.96,0.33,androgen receptor,,,2021,1312,221,3,253,574,0,"R-HSA-162582,R-HSA-392499,R-HSA-74160,R-HSA-8953897","Signal Transduction,Metabolism of proteins,Gene expression (Transcription),Cellular responses to stimuli",,0.25,Disease or Syndrome (T047),disease,"G4VV16,P10275,F1D8N5,A0A087WUX9,Q9NUA2",C0035372,ENSG00000169083,367,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2007,FXYD1,0.52,0.66,FXYD domain containing ion transport regulator 1,0.36711,,2020,38,221,3,0,574,0,"R-HSA-1643685,R-HSA-382551,R-HSA-397014","Disease,Transport of small molecules,Muscle contraction",Ion channel,0.25,Disease or Syndrome (T047),disease,O00168,C0035372,ENSG00000266964,5348,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.666666666666667,,2011,NFKB1,0.96,0.3,nuclear factor kappa B subunit 1,1,,2022,1856,221,3,110,574,0,"R-HSA-1266738,R-HSA-162582,R-HSA-1643685,R-HSA-168256,R-HSA-4839726,R-HSA-74160,R-HSA-8953897","Developmental Biology,Signal Transduction,Disease,Immune System,Chromatin organization,Gene expression (Transcription),Cellular responses to stimuli",Transcription factor,0.25,Disease or Syndrome (T047),disease,P19838,C0035372,ENSG00000109320,4790,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2007,LEP,0.96,0.31,leptin,0.0070036,,2023,1667,221,3,90,574,0,"R-HSA-1266738,R-HSA-162582,R-HSA-392499","Developmental Biology,Signal Transduction,Metabolism of proteins",,0.25,Disease or Syndrome (T047),disease,"A4D0Y8,P41159",C0035372,ENSG00000174697,3952,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.666666666666667,,2005,UBE3A,0.96,0.42,ubiquitin protein ligase E3A,1,,2018,579,221,3,345,574,0,R-HSA-168256,Immune System,,0.25,Disease or Syndrome (T047),disease,"Q05086,Q9H2G0",C0035372,ENSG00000114062,7337,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2018,CA1,0.96,0.47,carbonic anhydrase 1,4.3338E-05,,2022,310,221,3,8,574,0,"R-HSA-1430728,R-HSA-168256,R-HSA-382551","Metabolism,Immune System,Transport of small molecules",,0.25,Disease or Syndrome (T047),disease,"V9HWE3,P00915",C0035372,ENSG00000133742,759,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2013,H3C14,0.91,0.43,H3 clustered histone 14,,,2021,434,221,2,0,574,0,"R-HSA-109582,R-HSA-1266738,R-HSA-1474165,R-HSA-162582,R-HSA-1640170,R-HSA-1643685,R-HSA-168256,R-HSA-392499,R-HSA-4839726,R-HSA-69306,R-HSA-74160,R-HSA-8953897","Hemostasis,Developmental Biology,Reproduction,Signal Transduction,Cell Cycle,Disease,Immune System,Metabolism of proteins,Chromatin organization,DNA Replication,Gene expression (Transcription),Cellular responses to stimuli",,0.25,Disease or Syndrome (T047),disease,Q71DI3,C0035372,ENSG00000203811,126961,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2018,GRM7,0.87,0.53,glutamate metabotropic receptor 7,0.36055,,2020,230,221,2,48,574,0,R-HSA-162582,Signal Transduction,G-protein coupled receptor,0.25,Disease or Syndrome (T047),disease,"Q14831,B9EGG9,B2R693,Q59G95",C0035372,ENSG00000196277,2917,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,2001,HTR1A,0.91,0.47,5-hydroxytryptamine receptor 1A,2.3419E-04,,2013,325,221,2,9,574,0,R-HSA-162582,Signal Transduction,G-protein coupled receptor,0.25,Disease or Syndrome (T047),disease,"P08908,A8K5W4,Q5ZGX3",C0035372,ENSG00000178394,3350,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",0.5,,2013,MET,0.96,0.35,"MET proto-oncogene, receptor tyrosine kinase",0.99984,,2023,1090,221,2,1212,574,1,"R-HSA-1266738,R-HSA-162582,R-HSA-1643685,R-HSA-74160","Developmental Biology,Signal Transduction,Disease,Gene expression (Transcription)",Kinase,0.25,Disease or Syndrome (T047),disease,"P08581,B4DLF5,E6Y365",C0035372,ENSG00000105976,4233,protein-coding,0,0,0
disease of mental health (150),Rett Syndrome,"Congenital, Hereditary, and Neonatal Diseases and Abnormalities,Nervous System Diseases",1,,1991,POMC,0.96,0.32,proopiomelanocortin,3.3396E-10,,1997,1495,221,4,53,574,0,"R-HSA-1266738,R-HSA-1430728,R-HSA-162582,R-HSA-1643685,R-HSA-168256,R-HSA-392499,R-HSA-74160","Developmental Biology,Metabolism,Signal Transduction,Disease,Immune System,Metabolism of proteins,Gene expression (Transcription)",,0.2,Disease or Syndrome (T047),disease,P01189,C0035372,ENSG00000115138,5443,protein-coding,0,0,0
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