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{"sheet":"Sheet1","index":0,"n_rows":242,"n_cols":4,"rows_kept":242,"cut":false,"hidden":false,"merged":[]}
[null,"abnormal learning/ memory; MP:0001449"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[3,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[4,1387,"CREBBP","CREB binding protein"]
[5,10743,"RAI1","retinoic acid induced 1"]
[6,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[7,7337,"UBE3A","ubiquitin protein ligase E3A"]
[8,54413,"NLGN3","neuroligin 3"]
[9,4983,"OPHN1","oligophrenin 1"]
[10,5009,"OTC","ornithine carbamoyltransferase"]
[11,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[12,4763,"NF1","neurofibromin 1"]
[13,2334,"AFF2","AF4/FMR2 family, member 2"]
[14,2332,"FMR1","fragile X mental retardation 1"]
[15,5053,"PAH","phenylalanine hydroxylase"]
[16,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[17,7248,"TSC1","tuberous sclerosis 1"]
[18,7249,"TSC2","tuberous sclerosis 2"]
[19,186,"AGTR2","angiotensin II receptor, type 2"]
[20,170302,"ARX","aristaless related homeobox"]
[21,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[22,3897,"L1CAM","L1 cell adhesion molecule"]
[null,"abnormal learning/memory/conditioning; MP:0002063"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[3,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[4,1387,"CREBBP","CREB binding protein"]
[5,10743,"RAI1","retinoic acid induced 1"]
[6,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[7,7337,"UBE3A","ubiquitin protein ligase E3A"]
[8,54413,"NLGN3","neuroligin 3"]
[9,4983,"OPHN1","oligophrenin 1"]
[10,5009,"OTC","ornithine carbamoyltransferase"]
[11,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[12,4763,"NF1","neurofibromin 1"]
[13,2334,"AFF2","AF4/FMR2 family, member 2"]
[14,2332,"FMR1","fragile X mental retardation 1"]
[15,5053,"PAH","phenylalanine hydroxylase"]
[16,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[17,7248,"TSC1","tuberous sclerosis 1"]
[18,7249,"TSC2","tuberous sclerosis 2"]
[19,186,"AGTR2","angiotensin II receptor, type 2"]
[20,170302,"ARX","aristaless related homeobox"]
[21,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[22,3897,"L1CAM","L1 cell adhesion molecule"]
[23,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal motor capabilities/coordination/movement; MP:0002066"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[3,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[4,8573,"CASK","calcium/calmodulin-dependent serine protein kinase (MAGUK family)"]
[5,5728,"PTEN","phosphatase and tensin homolog"]
[6,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[7,10479,"SLC9A6","solute carrier family 9 (sodium/hydrogen exchanger), member 6"]
[8,1387,"CREBBP","CREB binding protein"]
[9,10743,"RAI1","retinoic acid induced 1"]
[10,7915,"ALDH5A1","aldehyde dehydrogenase 5 family, member A1"]
[11,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[12,8195,"MKKS","McKusick-Kaufman syndrome"]
[13,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[14,7337,"UBE3A","ubiquitin protein ligase E3A"]
[15,3481,"IGF2","insulin-like growth factor 2 (somatomedin A)"]
[16,54413,"NLGN3","neuroligin 3"]
[17,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[18,4983,"OPHN1","oligophrenin 1"]
[19,2290,"FOXG1","forkhead box G1"]
[20,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[21,8492,"PRSS12","protease, serine, 12 (neurotrypsin, motopsin)"]
[22,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[23,5009,"OTC","ornithine carbamoyltransferase"]
[24,6448,"SGSH","N-sulfoglucosamine sulfohydrolase"]
[25,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[26,4763,"NF1","neurofibromin 1"]
[27,2593,"GAMT","guanidinoacetate N-methyltransferase"]
[28,2332,"FMR1","fragile X mental retardation 1"]
[29,5053,"PAH","phenylalanine hydroxylase"]
[30,3198,"HOXA1","homeobox A1"]
[31,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[32,7248,"TSC1","tuberous sclerosis 1"]
[33,186,"AGTR2","angiotensin II receptor, type 2"]
[34,170302,"ARX","aristaless related homeobox"]
[35,1756,"DMD","dystrophin"]
[36,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[37,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[38,1717,"DHCR7","7-dehydrocholesterol reductase"]
[39,3897,"L1CAM","L1 cell adhesion molecule"]
[40,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"abnormal spatial learning; MP:0001463"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[3,7337,"UBE3A","ubiquitin protein ligase E3A"]
[4,54413,"NLGN3","neuroligin 3"]
[5,4983,"OPHN1","oligophrenin 1"]
[6,5009,"OTC","ornithine carbamoyltransferase"]
[7,4763,"NF1","neurofibromin 1"]
[8,2334,"AFF2","AF4/FMR2 family, member 2"]
[9,2332,"FMR1","fragile X mental retardation 1"]
[10,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[11,7248,"TSC1","tuberous sclerosis 1"]
[12,7249,"TSC2","tuberous sclerosis 2"]
[13,170302,"ARX","aristaless related homeobox"]
[14,3897,"L1CAM","L1 cell adhesion molecule"]
[null,"abnormal sensory capabilities/reflexes/nociception; MP:0002067"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[2,5728,"PTEN","phosphatase and tensin homolog"]
[3,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[4,10743,"RAI1","retinoic acid induced 1"]
[5,8195,"MKKS","McKusick-Kaufman syndrome"]
[6,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[7,7337,"UBE3A","ubiquitin protein ligase E3A"]
[8,54413,"NLGN3","neuroligin 3"]
[9,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[10,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[11,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[12,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[13,2334,"AFF2","AF4/FMR2 family, member 2"]
[14,2332,"FMR1","fragile X mental retardation 1"]
[15,5053,"PAH","phenylalanine hydroxylase"]
[16,3198,"HOXA1","homeobox A1"]
[17,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[18,7248,"TSC1","tuberous sclerosis 1"]
[19,186,"AGTR2","angiotensin II receptor, type 2"]
[20,170302,"ARX","aristaless related homeobox"]
[21,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[22,3897,"L1CAM","L1 cell adhesion molecule"]
[23,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"abnormal locomotor activation; MP:0003313"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[2,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[3,5728,"PTEN","phosphatase and tensin homolog"]
[4,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[5,10479,"SLC9A6","solute carrier family 9 (sodium/hydrogen exchanger), member 6"]
[6,1387,"CREBBP","CREB binding protein"]
[7,10743,"RAI1","retinoic acid induced 1"]
[8,8195,"MKKS","McKusick-Kaufman syndrome"]
[9,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[10,7337,"UBE3A","ubiquitin protein ligase E3A"]
[11,54413,"NLGN3","neuroligin 3"]
[12,4983,"OPHN1","oligophrenin 1"]
[13,2290,"FOXG1","forkhead box G1"]
[14,8492,"PRSS12","protease, serine, 12 (neurotrypsin, motopsin)"]
[15,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[16,5009,"OTC","ornithine carbamoyltransferase"]
[17,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[18,2332,"FMR1","fragile X mental retardation 1"]
[19,7248,"TSC1","tuberous sclerosis 1"]
[20,186,"AGTR2","angiotensin II receptor, type 2"]
[21,170302,"ARX","aristaless related homeobox"]
[22,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[23,1717,"DHCR7","7-dehydrocholesterol reductase"]
[24,3897,"L1CAM","L1 cell adhesion molecule"]
[25,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"seizures; MP:0002064"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[3,5728,"PTEN","phosphatase and tensin homolog"]
[4,10479,"SLC9A6","solute carrier family 9 (sodium/hydrogen exchanger), member 6"]
[5,1387,"CREBBP","CREB binding protein"]
[6,10743,"RAI1","retinoic acid induced 1"]
[7,7915,"ALDH5A1","aldehyde dehydrogenase 5 family, member A1"]
[8,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[9,7337,"UBE3A","ubiquitin protein ligase E3A"]
[10,6853,"SYN1","synapsin I"]
[11,5009,"OTC","ornithine carbamoyltransferase"]
[12,2332,"FMR1","fragile X mental retardation 1"]
[13,5053,"PAH","phenylalanine hydroxylase"]
[14,7248,"TSC1","tuberous sclerosis 1"]
[15,170302,"ARX","aristaless related homeobox"]
[16,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"abnormal reflex; MP:0001961"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[2,5728,"PTEN","phosphatase and tensin homolog"]
[3,10743,"RAI1","retinoic acid induced 1"]
[4,8195,"MKKS","McKusick-Kaufman syndrome"]
[5,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[6,7337,"UBE3A","ubiquitin protein ligase E3A"]
[7,54413,"NLGN3","neuroligin 3"]
[8,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[9,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[10,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[11,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[12,2332,"FMR1","fragile X mental retardation 1"]
[13,3198,"HOXA1","homeobox A1"]
[14,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[15,7248,"TSC1","tuberous sclerosis 1"]
[16,186,"AGTR2","angiotensin II receptor, type 2"]
[17,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[18,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"abnormal locomotor activity; MP:0001392"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[2,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[3,5728,"PTEN","phosphatase and tensin homolog"]
[4,775,"CACNA1C","calcium channel, voltage-dependent, L type, alpha 1C subunit"]
[5,10479,"SLC9A6","solute carrier family 9 (sodium/hydrogen exchanger), member 6"]
[6,1387,"CREBBP","CREB binding protein"]
[7,10743,"RAI1","retinoic acid induced 1"]
[8,7915,"ALDH5A1","aldehyde dehydrogenase 5 family, member A1"]
[9,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[10,8195,"MKKS","McKusick-Kaufman syndrome"]
[11,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[12,7337,"UBE3A","ubiquitin protein ligase E3A"]
[13,3481,"IGF2","insulin-like growth factor 2 (somatomedin A)"]
[14,54413,"NLGN3","neuroligin 3"]
[15,4983,"OPHN1","oligophrenin 1"]
[16,2290,"FOXG1","forkhead box G1"]
[17,8492,"PRSS12","protease, serine, 12 (neurotrypsin, motopsin)"]
[18,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[19,5009,"OTC","ornithine carbamoyltransferase"]
[20,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[21,2332,"FMR1","fragile X mental retardation 1"]
[22,5053,"PAH","phenylalanine hydroxylase"]
[23,7248,"TSC1","tuberous sclerosis 1"]
[24,186,"AGTR2","angiotensin II receptor, type 2"]
[25,170302,"ARX","aristaless related homeobox"]
[26,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[27,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[28,1717,"DHCR7","7-dehydrocholesterol reductase"]
[29,3897,"L1CAM","L1 cell adhesion molecule"]
[30,2892,"GRIA3","glutamate receptor, ionotrophic, AMPA 3"]
[null,"convulsive seizures; MP:0000947"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[3,5728,"PTEN","phosphatase and tensin homolog"]
[4,10743,"RAI1","retinoic acid induced 1"]
[5,7915,"ALDH5A1","aldehyde dehydrogenase 5 family, member A1"]
[6,7337,"UBE3A","ubiquitin protein ligase E3A"]
[7,6853,"SYN1","synapsin I"]
[8,5009,"OTC","ornithine carbamoyltransferase"]
[9,2332,"FMR1","fragile X mental retardation 1"]
[10,5053,"PAH","phenylalanine hydroxylase"]
[11,170302,"ARX","aristaless related homeobox"]