Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
0.510 GeneticVariation BEFREE Using exome sequencing, we identified mutations in Adrenocortical Dysplasia Homolog (ACD) (encoding TPP1), a component of the telomeric shelterin complex, in one family affected by HH. 25233904

2014

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
0.310 Biomarker BEFREE Mutations in genes encoding the shelterin proteins TRF1-interacting nuclear factor 2 (TIN2) and adrenocortical dysplasia homolog (ACD) were identified in dyskeratosis congenita, a syndrome characterized by somatic stem cell dysfunction in multiple organs leading to BM failure and other pleiotropic manifestations. 27135879

2016

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0025202
Disease: melanoma
melanoma
0.110 GeneticVariation BEFREE Six families had mutations in ACD and four families carried TERF2IP variants, which included nonsense mutations in both genes (p.Q320X and p.R364X, respectively) and point mutations that cosegregated with melanoma. 25505254

2015

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.110 Biomarker BEFREE The growth rate of tumor masses in TPP-1 or PD-L1 antibody-treated mice was 56% or 71% lower than that in control peptide-treated mice, respectively, indicating that TPP-1 inhibits, or at least retards, tumor growth. 29217732

2018

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.030 Biomarker BEFREE ACD decreased and LT increased markedly with age, rendering angle-closure glaucoma a possibility. 11980891

2002

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.030 GeneticVariation BEFREE All four siblings from family 1 had shorter axial biometry (ACD range 2.06-2.74 mm; AL range 20.46-22.60 mm) than the normal population, contributing to their risk of ACG development. 21921978

2011

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.030 Biomarker BEFREE The inclusion of genetic risk alleles (either singly or as a composite genetic risk score for 8 genomewide association study SNPs) to ACD only provided a +0.50% improvement in reclassifying PACG cases and controls over and above the discriminatory value of ACD. 31377279

2019

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease
0.020 Biomarker BEFREE Nine genes showing altered expression in both low and high clinical stage colon cancer: ACD (TPP1), DKC1 and ERCC1, MYC, MAX, NBN, NOLA2, PRKDC and HSP82 should, in particular, be the subjects of further studies including QRT-PCR methods. 20127035

2010

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease
0.020 Biomarker BEFREE Understanding the clinical spectrum of ACD and the cloning of an "ACD gene" both have implications for counseling, for prenatal testing, and for understanding the molecular pathophysiology of ACD and other organ malformations that are associated with this condition. 15520767

2004

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 GeneticVariation BEFREE Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). 14995083

2004

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 Biomarker BEFREE Distinction of ACD-RCC from clear cell and papillary RCCs based on molecular genetic information is deliberated, including a summary of the most frequently detected cytogenetic abnormalities. 28353376

2017

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.020 Biomarker BEFREE One of the consequences of this imbalance may be the increased induction of IL-8 that we found higher in acne, HS, and ACD respect to psoriasis. 28852851

2017

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.020 Biomarker BEFREE Interleukin (IL) -1 family members are significantly up-regulated in ACD and psoriasis patients skin. 27139015

2017

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.020 Biomarker BEFREE Nine genes showing altered expression in both low and high clinical stage colon cancer: ACD (TPP1), DKC1 and ERCC1, MYC, MAX, NBN, NOLA2, PRKDC and HSP82 should, in particular, be the subjects of further studies including QRT-PCR methods. 20127035

2010

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.020 Biomarker BEFREE Understanding the clinical spectrum of ACD and the cloning of an "ACD gene" both have implications for counseling, for prenatal testing, and for understanding the molecular pathophysiology of ACD and other organ malformations that are associated with this condition. 15520767

2004

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia
0.020 Biomarker BEFREE Understanding the clinical spectrum of ACD and the cloning of an "ACD gene" both have implications for counseling, for prenatal testing, and for understanding the molecular pathophysiology of ACD and other organ malformations that are associated with this condition. 15520767

2004

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C4554601
Disease: Amyloidosis cutis dyschromia
Amyloidosis cutis dyschromia
0.020 Biomarker BEFREE Nine genes showing altered expression in both low and high clinical stage colon cancer: ACD (TPP1), DKC1 and ERCC1, MYC, MAX, NBN, NOLA2, PRKDC and HSP82 should, in particular, be the subjects of further studies including QRT-PCR methods. 20127035

2010

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker BEFREE Understanding the clinical spectrum of ACD and the cloning of an "ACD gene" both have implications for counseling, for prenatal testing, and for understanding the molecular pathophysiology of ACD and other organ malformations that are associated with this condition. 15520767

2004

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker BEFREE Abbreviations: ACD: alpha-crystallin domain; ALS: amyotrophic lateral sclerosis; ATG14: autophagy related 14; BAG1/3: BCL2 associated athanogene 1/3; CMT: Charcot-Marie-Tooth; dHMN: distal hereditary motor neuropathy; GFP: green fluorescent protein; HSPA8: heat shock protein family A (Hsp70) member 8; HSPB1/6/8: heat shock protein family B (small) member 1/6/8; LIR: LC3-interacting region; LC3B: microtubule associated protein 1 light chain 3 beta; PB1: Phox and Bem1; SQSTM1: sequestosome 1; STUB1/CHIP: STIP1 homology and U-box containing protein 1; UBA: ubiquitin-associated; WIPI1: WD repeat domain, phosphoinositide interacting 1; WT: wild-type. 30669930

2019

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
0.010 GeneticVariation BEFREE Heterozygote detection for angiokeratoma corporis diffusum (Anderson-Fabry disease, ACD), an X-linked disorder of glycosphingolipid metabolism was examined using alpha-galactosidase activity, an alpha-galactosidase/beta-galactosidase activity ratios (alpha/beta ratio) in leucocytes, plasma, and hair follicles; For leucocytes, 22 obligate heterozygotes, 25 suspected heterozygotes, and 47 control subjects were studied, while for plasma, the groups were 17 obligate heterozygotes and 35 controls. 404411

1977

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0003081
Disease: Anisometropia
Anisometropia
0.010 GeneticVariation BEFREE The mean SE in patients with Cohen syndrome older than 10 years was -9.35 D; the mean cylinder power, +1.70 D; and the mean anisometropia, 0.53 D. Relative to the emmetropic eye of a young adult, the AL and VL (mean, 23.9 and 16.6 mm, respectively) and lens power (mean, 30.30 D) were higher in 74% and 93% of patients, respectively, and the ACD (mean, 2.5 mm) was smaller and the LT (mean, 4.9 mm) and corneal power (mean, 45.63 D) higher than average in all patients. 11980891

2002

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker BEFREE On the basis of our data, TPP-1 peptide could work as an alternative to antibodies for tumor immunotherapy.<i>Cancer </i>. 29217732

2018

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 Biomarker BEFREE CT of 3 ACD-associated RCCs showed negativity for 2 and equivocality for 1. 30377936

2019

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker BEFREE In a marker-by-marker analysis, 7 (TEP1, TNKS, and ACD), 11 (TEP1, ACD, and TERT), and 24 (TEP1, TNKS, TERT, TERF2IP, TNKS2, and UCP2) SNPs were associated-at the level of p < 0.05-with the total CVD, MI, and ischemic stroke risk, respectively. 20937264

2011

Entrez Id: 65057
Gene Symbol: ACD
ACD
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.010 Biomarker BEFREE Abbreviations: ACD: alpha-crystallin domain; ALS: amyotrophic lateral sclerosis; ATG14: autophagy related 14; BAG1/3: BCL2 associated athanogene 1/3; CMT: Charcot-Marie-Tooth; dHMN: distal hereditary motor neuropathy; GFP: green fluorescent protein; HSPA8: heat shock protein family A (Hsp70) member 8; HSPB1/6/8: heat shock protein family B (small) member 1/6/8; LIR: LC3-interacting region; LC3B: microtubule associated protein 1 light chain 3 beta; PB1: Phox and Bem1; SQSTM1: sequestosome 1; STUB1/CHIP: STIP1 homology and U-box containing protein 1; UBA: ubiquitin-associated; WIPI1: WD repeat domain, phosphoinositide interacting 1; WT: wild-type. 30669930

2019