Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23114
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Neurofascin |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
NFASC |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
NEDCPMD, NF, NRCAML |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
NEDCPMD |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q32.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 View all (32 more) |
|
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
20218926 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Dental caries |
Dental caries |
|
|
GWAS |
Tremor |
Tremor |
|
|
GWAS |
Leprosy |
Leprosy |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenoma |
Associate
|
35370935 |
Adenomyosis |
Associate
|
19368910 |
Amyotrophic Lateral Sclerosis |
Associate
|
12730211, 24704493, 29959860, 30029677, 32515902 |
Autoimmune Diseases |
Associate
|
29187518 |
Autoimmune Diseases of the Nervous System |
Associate
|
29187518 |
Basal Ganglia Diseases |
Associate
|
21278408 |
Bipolar Disorder |
Associate
|
40123161 |
Breast Neoplasms |
Associate
|
25169499, 35403930 |
Carcinoma Hepatocellular |
Associate
|
31163018 |
Carcinoma Merkel Cell |
Associate
|
30349028 |
Carcinoma Non Small Cell Lung |
Associate
|
28418179 |
Cardiomyopathies |
Associate
|
32631246 |
Cerebellar Ataxia |
Associate
|
30850329 |
Charcot Marie Tooth disease Type 2E |
Associate
|
26109717 |
Demyelinating Diseases |
Associate
|
30850329, 31501903 |
Developmental Disabilities |
Associate
|
30850329, 31501903 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
21828286 |
Endometriosis |
Associate
|
37555920 |
Genetic Diseases Inborn |
Associate
|
31501903 |
Glioma |
Associate
|
34169995 |
Guillain Barre Syndrome |
Associate
|
29187518 |
Intellectual Disability |
Associate
|
31501903, 9804856 |
Leiomyoma |
Associate
|
19368910 |
Lung Neoplasms |
Associate
|
28418179 |
Macrothrombocytopenia X Linked |
Associate
|
11809723 |
Medulloblastoma |
Associate
|
2478022 |
Motor Disorders |
Associate
|
31501903 |
Muscular Atrophy Spinal |
Associate
|
37458045 |
Muscular dystrophy congenital with central nervous system involvement |
Associate
|
31501903 |
Neoplasm Metastasis |
Associate
|
28418179, 31163018 |
Neoplasms |
Associate
|
1331003, 17085830, 35663322 |
Neoplasms |
Stimulate
|
28418179 |
Nerve Degeneration |
Associate
|
21278408, 24704493, 30029677 |
Nervous System Diseases |
Associate
|
30850329, 31501903 |
Neuroblastoma |
Associate
|
2123747 |
Neurodegenerative Diseases |
Associate
|
37848414 |
Neuroendocrine Tumors |
Associate
|
1331003 |
Optic Nerve Diseases |
Associate
|
21593627 |
Pancreatic Neoplasms |
Associate
|
24971005 |
Peripheral Nervous System Diseases |
Associate
|
29187518 |
Polyradiculoneuropathy |
Associate
|
31501903 |
Polyradiculoneuropathy Chronic Inflammatory Demyelinating |
Associate
|
29187518, 30850329 |
Prostatic Neoplasms |
Associate
|
26979803 |
Speech Disorders |
Associate
|
31501903 |
Spinocerebellar Degenerations |
Associate
|
30850329 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
29719198 |
Trauma Nervous System |
Associate
|
22897631 |
Tremor |
Associate
|
30850329 |
Trigeminal Nerve Diseases |
Associate
|
29187518 |
Urinary Bladder Neoplasms |
Associate
|
33720323 |
|