Annotation Detail for SYNGAP1
Basic Information
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| Gene Symbol: | SYNGAP1 ( DKFZp761G1421,KIAA1938,MRD5,RASA1,RASA5,SYNGAP ) |
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| Gene Full Name: | synaptic Ras GTPase activating protein 1 |
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| Band: | 6p21.32 |
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| Quick Links | Entrez ID:8831; OMIM: 603384; Uniprot ID:SYGP1_HUMAN; ENSEMBL ID: ENSG00000197283; HGNC ID: 11497 |
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| Relate to Another Database: |
SFARIGene;
denovo-db |
| Desease Name |
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| Mental retardation, autosomal dominant 5 |
| Chemical ID |
Chemical Name |
Interaction |
Interaction Action |
Publication |
|---|
| D000643 |
Ammonium Chloride |
Ammonium Chloride affects the expression of SYNGAP1 mRNA | affects expression | 16483693
|
| D004997 |
Ethinyl Estradiol |
Ethinyl Estradiol results in increased expression of SYNGAP1 mRNA | increases expression | 17942748
|
| Disease ID |
Disease Name |
Direct Evidence |
Inference Chemical Name |
Inference Score |
Publication |
|---|
| MESH:D000138 |
Acidosis |
|
Ammonium Chloride |
4.44 | 18287403 |
| MESH:D000152 |
Acne Vulgaris |
|
Ethinyl Estradiol |
5.01 | 17505938 |
| MESH:D000230 |
Adenocarcinoma |
|
Ethinyl Estradiol |
1.90 | 14692618 |
| MESH:D001161 |
Arteriosclerosis |
|
Ethinyl Estradiol |
4.23 | 11256880 |
| MESH:D001169 |
Arthritis, Experimental |
|
Ethinyl Estradiol |
2.93 | 15885639 |
| MESH:D001321 |
Autistic Disorder |
marker/mechanism |
|
| 20531469 |
| MESH:D002779 |
Cholestasis |
|
Ethinyl Estradiol |
3.24 | 17110522 17333356 17681005 15861022 16105132 16919318 11677210 |
| MESH:D004681 |
Encephalomyelitis, Autoimmune, Experimental |
|
Ethinyl Estradiol |
3.86 | 12538720 |
| MESH:D005234 |
Fatty Liver |
|
Ethinyl Estradiol |
3.36 | 15345470 |
| MESH:D007021 |
Hypospadias |
|
Ethinyl Estradiol |
4.57 | 16569931 16945680 |
| MESH:D007247 |
Infertility, Female |
|
Ethinyl Estradiol |
4.07 | 12013081 |
| MESH:D007248 |
Infertility, Male |
|
Ethinyl Estradiol |
2.79 | 17937319 |
| MESH:D008607 |
Mental Retardation |
marker/mechanism |
|
| 21076407 |
| OMIM:612621 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5 |
marker/mechanism |
|
| |
| MESH:D016584 |
Panic Disorder |
|
Ethinyl Estradiol |
4.29 | 11578682 |
| MESH:D011537 |
Pruritus |
|
Ethinyl Estradiol |
4.20 | 15861022 16919318 |
| MESH:D013088 |
Spermatocele |
|
Ethinyl Estradiol |
5.01 | 16709447 |
| MESH:D019851 |
Thrombophilia |
|
Ethinyl Estradiol |
4.23 | 11994571 |
| MESH:D013927 |
Thrombosis |
|
Ethinyl Estradiol |
3.62 | 15669648 |
| MESH:D014594 |
Uterine Neoplasms |
|
Ethinyl Estradiol |
3.97 | 14692618 |
| MESH:D020246 |
Venous Thrombosis |
|
Ethinyl Estradiol |
4.09 | 15869587 14671159 |
PharmGKB Accession:PA36279
| Releated disease ID |
Related disease Name |
| PA153906318 | Autism Spectrum Disorder |
Related Pathway Information