Human | IL23R | 149233 | interleukin 23 receptor | Our findings also suggest that polymorphisms at IL23R and TNFRSF1A, and possibly HLA and TLR4, loci may account for phenotypic variation in IBD |
Human | FRMD7 | 90167 | FERM domain containing 7 | We demonstrate that phenotypic variation of nystagmus occurs in families with FRMD7 mutations |
Human | COLQ | 8292 | collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase | Phenotypic variation in severity and symptoms |
Human | WT1 | 7490 | Wilms tumor 1 | A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X |
Human | TSHR | 7253 | thyroid stimulating hormone receptor | |
Human | STAR | 6770 | steroidogenic acute regulatory protein | phenotypic variations of 46, XX girls with mutations in the gene for StAR; majority of StAR 46,XX females developed irregular menses and ovarian cysts [review] |
Human | RDH5 | 5959 | retinol dehydrogenase 5 (11-cis/9-cis) | Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness |
Human | PTH | 5741 | parathyroid hormone | Lack of evidence for the parathyroid hormone gene as a quantitative trait locus underlying the bone phenotypic variation in the Chinese |
Human | TAS2R38 | 5726 | taste receptor, type 2, member 38 | review of the recent discovery of the PTC gene, the developments in taste physiology and population genetics that have followed, and the implications of this work for understanding phenotypic variation in taste perception in general |
Human | PDHA1 | 5160 | pyruvate dehydrogenase (lipoamide) alpha 1 | Females demonstrate lyonization with corresponding phenotypic variation |
Human | OPA1 | 4976 | optic atrophy 1 (autosomal dominant) | The OPA1 mutation may be correlated with slow progression of autosomal dominant optic atrophy (DOA), and with phenotypic variations within the family We report a phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation |
Human | OCA2 | 4948 | oculocutaneous albinism II | Variation present in the OCA2 gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour |
Human | KIR3DS1 | 3813 | killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 | The frequency of KIR3DL1/S1 subtype expression on NK cells contribute to the phenotypic variation across allotypes with respect to disease resistance |
Human | HNMT | 3176 | histamine N-methyltransferase | the C314T polymorphism was functionally important and contributes in part to phenotypic variance of histamine N-methyltransferase activity in Chinese Han population |
Human | GBA | 2629 | glucosidase, beta, acid | identified 98.7% of mutated GBA alleles, finding 56 different mutations & 66 genotypes causing Gaucher disease in Spain: 47 previously described & 9 novel; findings indicate genotypic heterogeneity explaining phenotypic variation in Spanish GD patients |
Human | COMT | 1312 | catechol-O-methyltransferase | We present replicated evidence that the COMT valine/methionine polymorphism at codon 158 (COMT Val158Met) was associated with phenotypic variation among children with ADHD |
Human | COL2A1 | 1280 | collagen, type II, alpha 1 | Study found a missense mutation (p.G1170S) in COL2A1 in a Japanese family with an autosomal dominant hip disorder manifesting as Legg-Calve-Perthes disease and showing considerable intra-familial phenotypic variation |
Human | AR | 367 | androgen receptor | In a Chinese family affected with androgen insensitivity syndrome, the familial distinct feature is that all patients shared an identical Arg840Cys substitution in the AR but displayed high phenotypic variation in disorders of male sexual development |
Human | ACTN3 | 89 | actinin, alpha 3 | In a study of adolescent Greeks there is a significant association between the ACTN3 R577X polymorphism and 40 m sprint time in males that accounts for phenotypic variance, with the 577R allele contributing to faster times in an additive manner |