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Browse result for Global developmental delay
※ introduction Global developmental delay is an umbrella term used when children are significantly delayed in two or more areas of development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development.[1] There is usually a specific condition which causes this delay, such as Cerebral Palsy, Fragile X syndrome or other chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition.[2]
Reference
Wiki: Global developmental delay
Reference
Wiki: Global developmental delay
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00155 | P16615 | 488 | ATP2A2 | Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 -ATPase 2) ATPase) | Homo sapiens |
| PTMD00748 | Q8NEZ4 | 58508 | KMT2C | Histone-lysine N-methyltransferase 2C | Homo sapiens |
| PTMD00779 | Q96RK0 | 23152 | CIC | Protein capicua homolog | Homo sapiens |
| PTMD02093 | A6NHR9 | 23347 | SMCHD1 | Structural maintenance of chromosomes flexible hinge domain-containing protein 1 | Homo sapiens |
| PTMD01434 | O60832 | 1736 | DKC1 | H/ACA ribonucleoprotein complex subunit DKC1 | Homo sapiens |
| PTMD01263 | O75530 | 8726 | EED | Polycomb protein EED | Homo sapiens |
| PTMD01451 | O94925 | 2744 | GLS | Glutaminase kidney isoform, mitochondrial [Cleaved into: Glutaminase kidney isoform, mitochondrial 68 kDa chain; Glutaminase kidney isoform, mitochondrial 65 kDa chain] | Homo sapiens |
| PTMD01518 | P14136 | 2670 | GFAP | Glial fibrillary acidic protein | Homo sapiens |
| PTMD01074 | P19525 | 5610 | EIF2AK2 | Interferon-induced, double-stranded RNA-activated protein kinase | Homo sapiens |
| PTMD01648 | P51532 | 6597 | SMARCA4 | Transcription activator BRG1 | Homo sapiens |
| PTMD02423 | O14764 | 2563 | GABRD | Gamma-aminobutyric acid receptor subunit delta receptor subunit delta) | Homo sapiens |
| PTMD02505 | O15078 | 80184 | CEP290 | Centrosomal protein of 290 kDa | Homo sapiens |
| PTMD02560 | O15297 | 8493 | PPM1D | Protein phosphatase 1D | Homo sapiens |
| PTMD02812 | O43933 | 5189 | PEX1 | Peroxisomal ATPase PEX1 | Homo sapiens |
| PTMD03069 | O75369 | 2317 | FLNB | Filamin-B | Homo sapiens |
| PTMD03514 | O95786 | 23586 | RIGI | Antiviral innate immune response receptor RIG-I | Homo sapiens |
| PTMD03575 | O96019 | 86 | ACTL6A | Actin-like protein 6A | Homo sapiens |
| PTMD03606 | P00966 | 445 | ASS1 | Argininosuccinate synthase | Homo sapiens |
| PTMD04016 | P10071 | 2737 | GLI3 | Transcriptional activator GLI3 [Cleaved into: Transcriptional repressor GLI3R ] | Homo sapiens |
| PTMD04034 | P10589 | 7025 | NR2F1 | COUP transcription factor 1 | Homo sapiens |
| PTMD04514 | P22314 | 7317 | UBA1 | Ubiquitin-like modifier-activating enzyme 1 | Homo sapiens |
| PTMD04681 | P27635 | 6134 | RPL10 | Large ribosomal subunit protein uL16 | Homo sapiens |
| PTMD04878 | P33897 | 215 | ABCD1 | ATP-binding cassette sub-family D member 1 | Homo sapiens |
| PTMD05064 | P41235 | 3172 | HNF4A | Hepatocyte nuclear factor 4-alpha | Homo sapiens |
| PTMD05173 | P46100 | 546 | ATRX | Transcriptional regulator ATRX | Homo sapiens |
| PTMD05886 | P62873 | 2782 | GNB1 | Guanine nucleotide-binding protein G/G/G subunit beta-1 | Homo sapiens |
| PTMD06076 | Q00577 | 5813 | PURA | Transcriptional activator protein Pur-alpha | Homo sapiens |
| PTMD06107 | Q01433 | 271 | AMPD2 | AMP deaminase 2 | Homo sapiens |
| PTMD06456 | Q13112 | 8208 | CHAF1B | Chromatin assembly factor 1 subunit B | Homo sapiens |
| PTMD06630 | Q13813 | 6709 | SPTAN1 | Spectrin alpha chain, non-erythrocytic 1 | Homo sapiens |
| PTMD06708 | Q14204 | 1778 | DYNC1H1 | Cytoplasmic dynein 1 heavy chain 1 | Homo sapiens |
| PTMD06787 | Q14669 | 9320 | TRIP12 | E3 ubiquitin-protein ligase TRIP12 | Homo sapiens |
| PTMD06877 | Q15022 | 23512 | SUZ12 | Polycomb protein SUZ12 | Homo sapiens |
| PTMD06881 | Q15029 | 9343 | EFTUD2 | 116 kDa U5 small nuclear ribonucleoprotein component | Homo sapiens |
| PTMD07132 | Q16650 | 10716 | TBR1 | T-box brain protein 1 | Homo sapiens |
| PTMD07404 | Q4G176 | 19732 | ACSF3 | Malonate--CoA ligase ACSF3, mitochondrial | Homo sapiens |
| PTMD08665 | Q765P7 | 92154 | MTSS2 | Protein MTSS 2 | Homo sapiens |
| PTMD08797 | Q7Z3K3 | 23126 | POGZ | Pogo transposable element with ZNF domain | Homo sapiens |
| PTMD08904 | Q7Z6Z7 | 10075 | HUWE1 | E3 ubiquitin-protein ligase HUWE1 | Homo sapiens |
| PTMD09065 | Q86VP3 | 23241 | PACS2 | Phosphofurin acidic cluster sorting protein 2 | Homo sapiens |
| PTMD09298 | Q8IW35 | 79598 | CEP97 | Centrosomal protein of 97 kDa | Homo sapiens |
| PTMD09790 | Q8N766 | 23065 | EMC1 | ER membrane protein complex subunit 1 | Homo sapiens |
| PTMD10191 | Q8NHM5 | 84678 | KDM2B | Lysine-specific demethylase 2B | Homo sapiens |
| PTMD10574 | Q8WVM7 | 10274 | STAG1 | Cohesin subunit SA-1 | Homo sapiens |
| PTMD10804 | Q92785 | 5977 | DPF2 | Zinc finger protein ubi-d4 | Homo sapiens |
| PTMD10806 | Q92793 | 1387 | CREBBP | CREB-binding protein | Homo sapiens |
| PTMD10899 | Q969G3 | 6605 | SMARCE1 | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 | Homo sapiens |
| PTMD11398 | Q96JM3 | 28348 | CHAMP1 | Chromosome alignment-maintaining phosphoprotein 1 | Homo sapiens |
| PTMD11876 | Q99708 | 5932 | RBBP8 | DNA endonuclease RBBP8 | Homo sapiens |
| PTMD12289 | Q9BXJ9 | 80155 | NAA15 | N-alpha-acetyltransferase 15, NatA auxiliary subunit | Homo sapiens |
| PTMD12751 | Q9H3S7 | 25930 | PTPN23 | Tyrosine-protein phosphatase non-receptor type 23 | Homo sapiens |
| PTMD14737 | Q9Y312 | 25980 | AAR2 | Protein AAR2 homolog | Homo sapiens |
| PTMD14865 | Q9Y4W2 | 81887 | LAS1L | Ribosomal biogenesis protein LAS1L | Homo sapiens |
