NORMOKALEMIC PERIODIC PARALYSIS
In the family reported by Poskanzer and Kerr (1961), 21 members were affected. In...
TRANSFORMER 2 ALPHA HOMOLOG; TRA2A
TRANSFORMER 2, DROSOPHILA, HOMOLOG OF, ALPHAHGNC Approved Gene Symbol: TRA2ACytog...
5-HYDROXYTRYPTAMINE RECEPTOR 1F; HTR1F
5-HYDROXYTRYPTAMINE-1E-LIKE RECEPTOR; HTR1ELSEROTONIN 5-HT-1F RECEPTORSEROTONIN 5...
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE
SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPESPONDYLOMETAPHYSEAL DYSPLASIA WITH SEV...
SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ADENINE NUCLEOTIDE TRANSLOCATOR), MEMBER A6; SLC25A6
ADENINE NUCLEOTIDE TRANSLOCATOR 3; ANT3ADP/ATP TRANSLOCATOR OF LIVERADP/ATP TRANS...
RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 19; ARHGEF19
WEAKLY SIMILAR TO RHOGEF5; WGEFHGNC Approved Gene Symbol: ARHGEF19Cytogenetic loc...
MEMBRANE-ANCHORED JUNCTION PROTEIN; MAJIN
CHROMOSOME 11 OPEN READING FRAME 85; C11ORF85HGNC Approved Gene Symbol: MAJINCyto...
NIPPLES INVERTED
MAMMILLAE INVERTITAE▼ InheritanceRomanus (1948) described 7 cases of inverted nip...
ASPARTYL-tRNA SYNTHETASE 1; DARS1
DARSASPRSHGNC Approved Gene Symbol: DARS1Cytogenetic location: 2q21.3 Genomic...
GUANYLATE-BINDING PROTEIN 2, INTERFERON-INDUCIBLE; GBP2
GUANYLATE-BINDING PROTEIN 1, MOUSE, HOMOLOG OF; GBP1HGNC Approved Gene Symbol: GB...
SOLUTE CARRIER FAMILY 17 (VESICULAR GLUTAMATE COTRANSPORTER), MEMBER 6; SLC17A6
SOLUTE CARRIER FAMILY 17 (SODIUM-DEPENDENT INORGANIC PHOSPHATE COTRANSPORTER), ME...
UPSTREAM BINDING PROTEIN 1; UBP1
LBP1A, INCLUDEDLBP1B, INCLUDEDHGNC Approved Gene Symbol: UBP1Cytogenetic location...
GROWTH FACTOR RECEPTOR-BOUND PROTEIN 14; GRB14
HGNC Approved Gene Symbol: GRB14Cytogenetic location: 2q24.3 Genomic coordina...
SECRETION-ASSOCIATED RAS-RELATED GTPase 1A; SAR1A
SAR1, S. CEREVISIAE, HOMOLOG OF, A; SAR1ASAR1A, S. CEREVISIAE, HOMOLOG OF, 1; SAR...
MYOPIA 2, AUTOSOMAL DOMINANT; MYP2
Cytogenetic location: 18p11.31 Genomic coordinates (GRCh38): 18:2,900,001-7,2...
