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Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance |
---|---|---|---|---|
Congenital Disorder of Glycosylation, Type IIc | 266265 | Solute Carrier Family 35, Member C1 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive |
Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration | 614934 | Polyribonucleotide Nucleotidyltransferase 1 | Diseases of the ear and mastoid process | Autosomal, Recessive |
SLC22A4-associated Hearing Impairment | Solute Carrier Family 22 (Organic Cation Transporter), Member 4 | Diseases of the ear and mastoid process | Autosomal, Recessive | |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant | 158600 | Dynein, Cytoplasmic 1, Heavy Chain 1 | Diseases of the nervous system | Autosomal, Dominant |
Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions | 611726 | Potassium Channel Tetramerization Domain-Containing Protein 7 | Diseases of the nervous system | Autosomal, Recessive |
Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID |
---|---|---|---|---|---|
Polyribonucleotide Nucleotidyltransferase 1 | 610316 | Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration | 87178 | Polyribonucleotide nucleotidyltransferase 1, mitochondrial | Q8TCS8 |
Solute Carrier Family 22 (Organic Cation Transporter), Member 4 | 604190 | SLC22A4-associated Hearing Impairment | 6583 | Solute carrier family 22 member 4 | Q9H015 |
Solute Carrier Family 35, Member C1 | 605881 | Congenital Disorder of Glycosylation, Type IIc | 55343 | GDP-fucose transporter 1 | Q96A29 |
Potassium Channel Tetramerization Domain-Containing Protein 7 | 611725 | Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions | 154881 | BTB/POZ domain-containing protein KCTD7 | Q96MP8 |
Notch Receptor 2 | 600275 | Hajdu-Cheney Syndrome | 4853 | Neurogenic locus notch homolog protein 2 | Q04721 |
Name | OMIM Number | Related Gene Record | WHO-ICD Classification | Mode of Inheritance | |
---|---|---|---|---|---|
Congenital Disorder of Glycosylation, Type IIc | 266265 | Solute Carrier Family 35, Member C1 | Endocrine, nutritional and metabolic diseases | Autosomal, Recessive | |
Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration | 614934 | Polyribonucleotide Nucleotidyltransferase 1 | Diseases of the ear and mastoid process | Autosomal, Recessive | |
SLC22A4-associated Hearing Impairment | Solute Carrier Family 22 (Organic Cation Transporter), Member 4 | Diseases of the ear and mastoid process | Autosomal, Recessive | ||
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant | 158600 | Dynein, Cytoplasmic 1, Heavy Chain 1 | Diseases of the nervous system | Autosomal, Dominant | |
Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions | 611726 | Potassium Channel Tetramerization Domain-Containing Protein 7 | Diseases of the nervous system | Autosomal, Recessive |
Name | OMIM Number | Related Disease Record | NCBI Gene ID | Protein Name | Uniprot ID | |
---|---|---|---|---|---|---|
Polyribonucleotide Nucleotidyltransferase 1 | 610316 | Deafness, Autosomal Recessive 70, with or without Adult-Onset Neurodegeneration | 87178 | Polyribonucleotide nucleotidyltransferase 1, mitochondrial | Q8TCS8 | |
Solute Carrier Family 22 (Organic Cation Transporter), Member 4 | 604190 | SLC22A4-associated Hearing Impairment | 6583 | Solute carrier family 22 member 4 | Q9H015 | |
Solute Carrier Family 35, Member C1 | 605881 | Congenital Disorder of Glycosylation, Type IIc | 55343 | GDP-fucose transporter 1 | Q96A29 | |
Potassium Channel Tetramerization Domain-Containing Protein 7 | 611725 | Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions | 154881 | BTB/POZ domain-containing protein KCTD7 | Q96MP8 | |
Notch Receptor 2 | 600275 | Hajdu-Cheney Syndrome | 4853 | Neurogenic locus notch homolog protein 2 | Q04721 |
Name | Related Gene Record | dbSNP | Clinvar | Related Disease Record | Clinvar Clinical Significance | CTGA Clinical Significance | |
---|---|---|---|---|---|---|---|
NM_018389.5:c.1010A>G | Solute Carrier Family 35, Member C1 | Congenital Disorder of Glycosylation, Type IIc | |||||
NM_018389.5:c.923C>G | Solute Carrier Family 35, Member C1 | 28937886 | 4740 | Congenital Disorder of Glycosylation, Type IIc | |||
NM_000211.5:c.119_128del | Integrin, Beta-2 | Leukocyte Adhesion Deficiency, Type I | |||||
NM_018451.5:c.2693-3T>C | Centromeric Protein J | 1954466616 | Microcephaly 6, Primary, Autosomal Recessive | ||||
NM_007055.4:c.1672T>G | Polymerase III, RNA, Subunit A | Leukodystrophy, Hypomyelinating, 7, with or without Oligodontia and/or Hypogonadotropic Hypogonadism |