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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00155P16615488
ATP2A2
Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 -ATPase 2) ATPase)
Homo sapiens
PTMD00748Q8NEZ458508
KMT2C
Histone-lysine N-methyltransferase 2C
Homo sapiens
PTMD00779Q96RK023152
CIC
Protein capicua homolog
Homo sapiens
PTMD02093A6NHR923347
SMCHD1
Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Homo sapiens
PTMD01434O608321736
DKC1
H/ACA ribonucleoprotein complex subunit DKC1
Homo sapiens
PTMD01263O755308726
EED
Polycomb protein EED
Homo sapiens
PTMD01451O949252744
GLS
Glutaminase kidney isoform, mitochondrial [Cleaved into: Glutaminase kidney isoform, mitochondrial 68 kDa chain; Glutaminase kidney isoform, mitochondrial 65 kDa chain]
Homo sapiens
PTMD01518P141362670
GFAP
Glial fibrillary acidic protein
Homo sapiens
PTMD01074P195255610
EIF2AK2
Interferon-induced, double-stranded RNA-activated protein kinase
Homo sapiens
PTMD01648P515326597
SMARCA4
Transcription activator BRG1
Homo sapiens
PTMD02423O147642563
GABRD
Gamma-aminobutyric acid receptor subunit delta receptor subunit delta)
Homo sapiens
PTMD02505O1507880184
CEP290
Centrosomal protein of 290 kDa
Homo sapiens
PTMD02560O152978493
PPM1D
Protein phosphatase 1D
Homo sapiens
PTMD02812O439335189
PEX1
Peroxisomal ATPase PEX1
Homo sapiens
PTMD03069O753692317
FLNB
Filamin-B
Homo sapiens
PTMD03514O9578623586
RIGI
Antiviral innate immune response receptor RIG-I
Homo sapiens
PTMD03575O9601986
ACTL6A
Actin-like protein 6A
Homo sapiens
PTMD03606P00966445
ASS1
Argininosuccinate synthase
Homo sapiens
PTMD04016P100712737
GLI3
Transcriptional activator GLI3 [Cleaved into: Transcriptional repressor GLI3R ]
Homo sapiens
PTMD04034P105897025
NR2F1
COUP transcription factor 1
Homo sapiens
PTMD04514P223147317
UBA1
Ubiquitin-like modifier-activating enzyme 1
Homo sapiens
PTMD04681P276356134
RPL10
Large ribosomal subunit protein uL16
Homo sapiens
PTMD04878P33897215
ABCD1
ATP-binding cassette sub-family D member 1
Homo sapiens
PTMD05064P412353172
HNF4A
Hepatocyte nuclear factor 4-alpha
Homo sapiens
PTMD05173P46100546
ATRX
Transcriptional regulator ATRX
Homo sapiens
PTMD05886P628732782
GNB1
Guanine nucleotide-binding protein G/G/G subunit beta-1
Homo sapiens
PTMD06076Q005775813
PURA
Transcriptional activator protein Pur-alpha
Homo sapiens
PTMD06107Q01433271
AMPD2
AMP deaminase 2
Homo sapiens
PTMD06456Q131128208
CHAF1B
Chromatin assembly factor 1 subunit B
Homo sapiens
PTMD06630Q138136709
SPTAN1
Spectrin alpha chain, non-erythrocytic 1
Homo sapiens
PTMD06708Q142041778
DYNC1H1
Cytoplasmic dynein 1 heavy chain 1
Homo sapiens
PTMD06787Q146699320
TRIP12
E3 ubiquitin-protein ligase TRIP12
Homo sapiens
PTMD06877Q1502223512
SUZ12
Polycomb protein SUZ12
Homo sapiens
PTMD06881Q150299343
EFTUD2
116 kDa U5 small nuclear ribonucleoprotein component
Homo sapiens
PTMD07132Q1665010716
TBR1
T-box brain protein 1
Homo sapiens
PTMD07404Q4G17619732
ACSF3
Malonate--CoA ligase ACSF3, mitochondrial
Homo sapiens
PTMD08665Q765P792154
MTSS2
Protein MTSS 2
Homo sapiens
PTMD08797Q7Z3K323126
POGZ
Pogo transposable element with ZNF domain
Homo sapiens
PTMD08904Q7Z6Z710075
HUWE1
E3 ubiquitin-protein ligase HUWE1
Homo sapiens
PTMD09065Q86VP323241
PACS2
Phosphofurin acidic cluster sorting protein 2
Homo sapiens
PTMD09298Q8IW3579598
CEP97
Centrosomal protein of 97 kDa
Homo sapiens
PTMD09790Q8N76623065
EMC1
ER membrane protein complex subunit 1
Homo sapiens
PTMD10191Q8NHM584678
KDM2B
Lysine-specific demethylase 2B
Homo sapiens
PTMD10574Q8WVM710274
STAG1
Cohesin subunit SA-1
Homo sapiens
PTMD10804Q927855977
DPF2
Zinc finger protein ubi-d4
Homo sapiens
PTMD10806Q927931387
CREBBP
CREB-binding protein
Homo sapiens
PTMD10899Q969G36605
SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
Homo sapiens
PTMD11398Q96JM328348
CHAMP1
Chromosome alignment-maintaining phosphoprotein 1
Homo sapiens
PTMD11876Q997085932
RBBP8
DNA endonuclease RBBP8
Homo sapiens
PTMD12289Q9BXJ980155
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit
Homo sapiens
PTMD12751Q9H3S725930
PTPN23
Tyrosine-protein phosphatase non-receptor type 23
Homo sapiens
PTMD14737Q9Y31225980
AAR2
Protein AAR2 homolog
Homo sapiens
PTMD14865Q9Y4W281887
LAS1L
Ribosomal biogenesis protein LAS1L
Homo sapiens