MCID: NPB001
MIFTS: 13

Nipbl-Related Cornelia De Lange Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Nipbl-Related Cornelia De Lange Syndrome

MalaCards integrated aliases for Nipbl-Related Cornelia De Lange Syndrome:

Name: Nipbl-Related Cornelia De Lange Syndrome 24
Cornelia De Lange Syndrome 1 24

Classifications:



Summaries for Nipbl-Related Cornelia De Lange Syndrome

MalaCards based summary : Nipbl-Related Cornelia De Lange Syndrome, also known as cornelia de lange syndrome 1, is related to cornelia de lange syndrome 1 and cornelia de lange syndrome. An important gene associated with Nipbl-Related Cornelia De Lange Syndrome is NIPBL (NIPBL, Cohesin Loading Factor).

Related Diseases for Nipbl-Related Cornelia De Lange Syndrome

Graphical network of the top 20 diseases related to Nipbl-Related Cornelia De Lange Syndrome:



Diseases related to Nipbl-Related Cornelia De Lange Syndrome

Symptoms & Phenotypes for Nipbl-Related Cornelia De Lange Syndrome

Drugs & Therapeutics for Nipbl-Related Cornelia De Lange Syndrome

Search Clinical Trials , NIH Clinical Center for Nipbl-Related Cornelia De Lange Syndrome

Genetic Tests for Nipbl-Related Cornelia De Lange Syndrome

Genetic tests related to Nipbl-Related Cornelia De Lange Syndrome:

id Genetic test Affiliating Genes
1 Nipbl-Related Cornelia De Lange Syndrome 24 NIPBL

Anatomical Context for Nipbl-Related Cornelia De Lange Syndrome

Publications for Nipbl-Related Cornelia De Lange Syndrome

Variations for Nipbl-Related Cornelia De Lange Syndrome

ClinVar genetic disease variations for Nipbl-Related Cornelia De Lange Syndrome:

6 (show top 50) (show all 201)
id Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NIPBL, 1-BP INS, 1546G insertion Pathogenic
2 NIPBL NM_015384.4(NIPBL): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs121918264 GRCh37 Chromosome 5, 36953800: 36953800
3 NIPBL NM_015384.4(NIPBL): c.7289A> G (p.Tyr2430Cys) single nucleotide variant Pathogenic rs121918265 GRCh37 Chromosome 5, 37057313: 37057313
4 NIPBL NIPBL, 1-BP DEL, 150G deletion Pathogenic
5 NIPBL NIPBL, 1-BP INS, 7306G insertion Pathogenic
6 NIPBL NM_015384.4(NIPBL): c.3616_3618delATA (p.Ile1206del) deletion Pathogenic rs121918266 GRCh37 Chromosome 5, 37001132: 37001134
7 NIPBL NIPBL, 2-BP DEL, 2479AG deletion Pathogenic
8 NIPBL NM_133433.3(NIPBL): c.5167C> T (p.Arg1723Ter) single nucleotide variant Pathogenic rs121918267 GRCh37 Chromosome 5, 37020717: 37020717
9 NIPBL NM_015384.4(NIPBL): c.3737C> G (p.Ala1246Gly) single nucleotide variant Pathogenic rs121918268 GRCh37 Chromosome 5, 37002836: 37002836
10 NIPBL NIPBL, IVS45AS, G-C, -1 single nucleotide variant Pathogenic
11 NIPBL NIPBL, IVS44DS, A-G, +4 single nucleotide variant Pathogenic
12 NIPBL NM_133433.3(NIPBL): c.4606C> T (p.Arg1536Ter) single nucleotide variant Pathogenic rs121918269 GRCh37 Chromosome 5, 37014830: 37014830
13 NIPBL NM_015384.4(NIPBL): c.-321_-320delCCinsA indel Pathogenic rs724159980 GRCh37 Chromosome 5, 36877039: 36877040
14 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
15 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
16 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
17 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
18 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
19 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
20 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
21 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
22 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
23 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
24 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
25 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
26 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
27 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
28 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
29 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
30 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
31 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
32 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
33 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
34 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
35 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
36 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
37 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
38 NIPBL NM_015384.4(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
39 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
40 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh38 Chromosome 5, 36958183: 36958190
41 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334
42 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh37 Chromosome 5, 36961683: 36961683
43 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh37 Chromosome 5, 36962364: 36962364
44 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh37 Chromosome 5, 36962377: 36962377
45 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh37 Chromosome 5, 36971104: 36971104
46 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh37 Chromosome 5, 36971139: 36971139
47 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh37 Chromosome 5, 36972046: 36972046
48 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh37 Chromosome 5, 36975877: 36975877
49 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh37 Chromosome 5, 36975901: 36975901
50 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh37 Chromosome 5, 36975901: 36975901

Expression for Nipbl-Related Cornelia De Lange Syndrome

Search GEO for disease gene expression data for Nipbl-Related Cornelia De Lange Syndrome.

Pathways for Nipbl-Related Cornelia De Lange Syndrome

GO Terms for Nipbl-Related Cornelia De Lange Syndrome

Cellular components related to Nipbl-Related Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 MLL1 complex GO:0071339 8.62 KMT2A TAF6

Biological processes related to Nipbl-Related Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.16 KMT2A TAF6
2 regulation of gene expression GO:0010468 8.96 KMT2A NIPBL
3 cognition GO:0050890 8.62 KMT2A NIPBL

Molecular functions related to Nipbl-Related Cornelia De Lange Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.62 KMT2A NIPBL

Sources for Nipbl-Related Cornelia De Lange Syndrome

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10 dbSNP
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16 ExPASy
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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