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{"sheet":"Sheet1","index":0,"n_rows":280,"n_cols":4,"rows_kept":280,"cut":false,"hidden":false,"merged":[]}
[null,"abnormal cerebrum morphology; MP:0008540"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,23322,"RPGRIP1L","RPGRIP1-like"]
[4,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[5,5728,"PTEN","phosphatase and tensin homolog"]
[6,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[7,8195,"MKKS","McKusick-Kaufman syndrome"]
[8,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[9,2263,"FGFR2","fibroblast growth factor receptor 2"]
[10,7337,"UBE3A","ubiquitin protein ligase E3A"]
[11,6853,"SYN1","synapsin I"]
[12,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[13,4983,"OPHN1","oligophrenin 1"]
[14,2290,"FOXG1","forkhead box G1"]
[15,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[16,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[17,5009,"OTC","ornithine carbamoyltransferase"]
[18,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[19,2332,"FMR1","fragile X mental retardation 1"]
[20,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[21,7248,"TSC1","tuberous sclerosis 1"]
[22,7249,"TSC2","tuberous sclerosis 2"]
[23,186,"AGTR2","angiotensin II receptor, type 2"]
[24,170302,"ARX","aristaless related homeobox"]
[25,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[26,1717,"DHCR7","7-dehydrocholesterol reductase"]
[27,3897,"L1CAM","L1 cell adhesion molecule"]
[28,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal forebrain morphology; MP:0000783"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,23322,"RPGRIP1L","RPGRIP1-like"]
[4,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[5,5728,"PTEN","phosphatase and tensin homolog"]
[6,1387,"CREBBP","CREB binding protein"]
[7,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[8,8195,"MKKS","McKusick-Kaufman syndrome"]
[9,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[10,2263,"FGFR2","fibroblast growth factor receptor 2"]
[11,7337,"UBE3A","ubiquitin protein ligase E3A"]
[12,6853,"SYN1","synapsin I"]
[13,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[14,4983,"OPHN1","oligophrenin 1"]
[15,2290,"FOXG1","forkhead box G1"]
[16,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[17,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[18,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[19,5009,"OTC","ornithine carbamoyltransferase"]
[20,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[21,4763,"NF1","neurofibromin 1"]
[22,2332,"FMR1","fragile X mental retardation 1"]
[23,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[24,7248,"TSC1","tuberous sclerosis 1"]
[25,2348,"FOLR1","folate receptor 1 (adult)"]
[26,7249,"TSC2","tuberous sclerosis 2"]
[27,186,"AGTR2","angiotensin II receptor, type 2"]
[28,170302,"ARX","aristaless related homeobox"]
[29,1756,"DMD","dystrophin"]
[30,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[31,1717,"DHCR7","7-dehydrocholesterol reductase"]
[32,3897,"L1CAM","L1 cell adhesion molecule"]
[33,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal brain morphology; MP:0002152"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[4,23322,"RPGRIP1L","RPGRIP1-like"]
[5,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[6,5728,"PTEN","phosphatase and tensin homolog"]
[7,1387,"CREBBP","CREB binding protein"]
[8,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[9,8195,"MKKS","McKusick-Kaufman syndrome"]
[10,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[11,2263,"FGFR2","fibroblast growth factor receptor 2"]
[12,4693,"NDP","Norrie disease (pseudoglioma)"]
[13,7337,"UBE3A","ubiquitin protein ligase E3A"]
[14,6853,"SYN1","synapsin I"]
[15,54413,"NLGN3","neuroligin 3"]
[16,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[17,4983,"OPHN1","oligophrenin 1"]
[18,11141,"IL1RAPL1","interleukin 1 receptor accessory protein-like 1"]
[19,2290,"FOXG1","forkhead box G1"]
[20,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[21,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[22,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[23,5009,"OTC","ornithine carbamoyltransferase"]
[24,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[25,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[26,4763,"NF1","neurofibromin 1"]
[27,2332,"FMR1","fragile X mental retardation 1"]
[28,3198,"HOXA1","homeobox A1"]
[29,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[30,7248,"TSC1","tuberous sclerosis 1"]
[31,2348,"FOLR1","folate receptor 1 (adult)"]
[32,7249,"TSC2","tuberous sclerosis 2"]
[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)"]
[37,9968,"MED12","mediator complex subunit 12"]
[38,1717,"DHCR7","7-dehydrocholesterol reductase"]
[39,3897,"L1CAM","L1 cell adhesion molecule"]
[40,3845,"KRAS","v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"]
[41,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal telencephalon morphology; MP:0000787"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,23322,"RPGRIP1L","RPGRIP1-like"]
[4,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[5,5728,"PTEN","phosphatase and tensin homolog"]
[6,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[7,8195,"MKKS","McKusick-Kaufman syndrome"]
[8,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[9,2263,"FGFR2","fibroblast growth factor receptor 2"]
[10,7337,"UBE3A","ubiquitin protein ligase E3A"]
[11,6853,"SYN1","synapsin I"]
[12,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[13,4983,"OPHN1","oligophrenin 1"]
[14,2290,"FOXG1","forkhead box G1"]
[15,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[16,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[17,5009,"OTC","ornithine carbamoyltransferase"]
[18,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[19,2332,"FMR1","fragile X mental retardation 1"]
[20,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[21,7248,"TSC1","tuberous sclerosis 1"]
[22,7249,"TSC2","tuberous sclerosis 2"]
[23,186,"AGTR2","angiotensin II receptor, type 2"]
[24,170302,"ARX","aristaless related homeobox"]
[25,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[26,1717,"DHCR7","7-dehydrocholesterol reductase"]
[27,3897,"L1CAM","L1 cell adhesion molecule"]
[28,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal cerebral cortex morphology; MP:0000788"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[4,8195,"MKKS","McKusick-Kaufman syndrome"]
[5,7337,"UBE3A","ubiquitin protein ligase E3A"]
[6,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[7,4983,"OPHN1","oligophrenin 1"]
[8,2290,"FOXG1","forkhead box G1"]
[9,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[10,5009,"OTC","ornithine carbamoyltransferase"]
[11,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[12,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[13,7248,"TSC1","tuberous sclerosis 1"]
[14,7249,"TSC2","tuberous sclerosis 2"]
[15,170302,"ARX","aristaless related homeobox"]
[16,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[17,3897,"L1CAM","L1 cell adhesion molecule"]
[18,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal nervous system morphology; MP:0003632"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,6323,"SCN1A","sodium channel, voltage-gated, type I, alpha subunit"]
[4,3000,"GUCY2D","guanylate cyclase 2D, membrane (retina-specific)"]
[5,23322,"RPGRIP1L","RPGRIP1-like"]
[6,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[7,5728,"PTEN","phosphatase and tensin homolog"]
[8,1387,"CREBBP","CREB binding protein"]
[9,7915,"ALDH5A1","aldehyde dehydrogenase 5 family, member A1"]
[10,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[11,778,"CACNA1F","calcium channel, voltage-dependent, L type, alpha 1F subunit"]
[12,8195,"MKKS","McKusick-Kaufman syndrome"]
[13,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[14,2263,"FGFR2","fibroblast growth factor receptor 2"]
[15,4693,"NDP","Norrie disease (pseudoglioma)"]
[16,7337,"UBE3A","ubiquitin protein ligase E3A"]
[17,6853,"SYN1","synapsin I"]
[18,54413,"NLGN3","neuroligin 3"]
[19,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[20,4983,"OPHN1","oligophrenin 1"]
[21,6899,"TBX1","T-box 1"]
[22,11141,"IL1RAPL1","interleukin 1 receptor accessory protein-like 1"]
[23,2290,"FOXG1","forkhead box G1"]
[24,25836,"NIPBL","Nipped-B homolog (Drosophila)"]
[25,8492,"PRSS12","protease, serine, 12 (neurotrypsin, motopsin)"]
[26,55636,"CHD7","chromodomain helicase DNA binding protein 7"]
[27,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[28,5009,"OTC","ornithine carbamoyltransferase"]
[29,673,"BRAF","v-raf murine sarcoma viral oncogene homolog B1"]
[30,4281,"MID1","midline 1 (Opitz/BBB syndrome)"]
[31,4763,"NF1","neurofibromin 1"]
[32,2332,"FMR1","fragile X mental retardation 1"]
[33,3198,"HOXA1","homeobox A1"]
[34,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[35,7248,"TSC1","tuberous sclerosis 1"]
[36,2348,"FOLR1","folate receptor 1 (adult)"]
[37,7249,"TSC2","tuberous sclerosis 2"]
[38,186,"AGTR2","angiotensin II receptor, type 2"]
[39,170302,"ARX","aristaless related homeobox"]
[40,6121,"RPE65","retinal pigment epithelium-specific protein 65kDa"]
[41,1756,"DMD","dystrophin"]
[42,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[43,79813,"EHMT1","euchromatic histone-lysine N-methyltransferase 1"]
[44,80184,"CEP290","centrosomal protein 290kDa"]
[45,5781,"PTPN11","protein tyrosine phosphatase, non-receptor type 11"]
[46,9968,"MED12","mediator complex subunit 12"]
[47,1717,"DHCR7","7-dehydrocholesterol reductase"]
[48,3897,"L1CAM","L1 cell adhesion molecule"]
[49,54806,"AHI1","Abelson helper integration site 1"]
[50,3845,"KRAS","v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"]
[51,2904,"GRIN2B","glutamate receptor, ionotropic, N-methyl D-aspartate 2B"]
[null,"abnormal hippocampus morphology; MP:0000807"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[4,5728,"PTEN","phosphatase and tensin homolog"]
[5,8195,"MKKS","McKusick-Kaufman syndrome"]
[6,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[7,6853,"SYN1","synapsin I"]
[8,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[9,2290,"FOXG1","forkhead box G1"]
[10,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[11,2332,"FMR1","fragile X mental retardation 1"]
[12,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[13,7248,"TSC1","tuberous sclerosis 1"]
[14,186,"AGTR2","angiotensin II receptor, type 2"]
[15,170302,"ARX","aristaless related homeobox"]
[16,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[17,3897,"L1CAM","L1 cell adhesion molecule"]
[null,"abnormal temporal lobe morphology; MP:0000801"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[4,5728,"PTEN","phosphatase and tensin homolog"]
[5,8195,"MKKS","McKusick-Kaufman syndrome"]
[6,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[7,6853,"SYN1","synapsin I"]
[8,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[9,2290,"FOXG1","forkhead box G1"]
[10,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[11,2332,"FMR1","fragile X mental retardation 1"]
[12,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[13,7248,"TSC1","tuberous sclerosis 1"]
[14,186,"AGTR2","angiotensin II receptor, type 2"]
[15,170302,"ARX","aristaless related homeobox"]
[16,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[17,3897,"L1CAM","L1 cell adhesion molecule"]
[null,"abnormal limbic system morphology; MP:0004166"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[4,5728,"PTEN","phosphatase and tensin homolog"]
[5,4669,"NAGLU","N-acetylglucosaminidase, alpha"]
[6,8195,"MKKS","McKusick-Kaufman syndrome"]
[7,4204,"MECP2","methyl CpG binding protein 2 (Rett syndrome)"]
[8,6853,"SYN1","synapsin I"]
[9,55624,"POMGNT1","protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"]
[10,2290,"FOXG1","forkhead box G1"]
[11,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[12,2332,"FMR1","fragile X mental retardation 1"]
[13,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[14,7248,"TSC1","tuberous sclerosis 1"]
[15,186,"AGTR2","angiotensin II receptor, type 2"]
[16,170302,"ARX","aristaless related homeobox"]
[17,4784,"NFIX","nuclear factor I/X (CCAAT-binding transcription factor)"]
[18,3897,"L1CAM","L1 cell adhesion molecule"]
[null,"abnormal hippocampus pyramidal cell layer; MP:0008284"]
[null,"Entrez Gene ID","Gene Symbol","Gene Name"]
[1,1641,"DCX","doublecortin"]
[2,546,"ATRX","alpha thalassemia/mental retardation syndrome X-linked"]
[3,8831,"SYNGAP1","synaptic Ras GTPase activating protein 1"]
[4,5728,"PTEN","phosphatase and tensin homolog"]
[5,6853,"SYN1","synapsin I"]
[6,2290,"FOXG1","forkhead box G1"]
[7,7531,"YWHAE","tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"]
[8,5048,"PAFAH1B1","platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)"]
[9,7248,"TSC1","tuberous sclerosis 1"]