Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.100 Biomarker disease HPO
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		0.100 Biomarker disease HPO
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 Biomarker disease HPO
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 57152
Gene Symbol: SLURP1
SLURP1 		0.200 Biomarker disease MGD Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. 24499735 2014
Entrez Id: 9056
Gene Symbol: SLC7A7
SLC7A7 		0.100 Biomarker disease HPO
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10 		0.100 Biomarker disease HPO
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		0.020 GeneticVariation disease BEFREE Our patient did not display deficiency in α-1-antitrypsin, the most common cause of emphysema in non-smokers, which brings about disseminated elastolysis. 22386972 2012
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1 		0.020 AlteredExpression disease BEFREE The combination of cigarette smoking and subnormal alpha 1 antitrypsin levels may explain the pulmonary spread in these two women who have what is usually a benign form of cutis laxa limited to the skin. 8091333 1994
Entrez Id: 6404
Gene Symbol: SELPLG
SELPLG 		0.010 AlteredExpression disease BEFREE Acquired cutis laxa (cutis laxa acquisita; CLA) has also been described in patients with plasma cell dyscrasias, including multiple myeloma. 28247530 2017
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 Biomarker disease HPO
Entrez Id: 9904
Gene Symbol: RBM19
RBM19 		0.010 Biomarker disease BEFREE Mechanical (involuntary) brow elevation significantly raised MRD1 in control eyelids and eyelids with dermatochalasis, but not in eyelids with ptosis. 30124610 2019
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 24035636 2013
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 (<i>PYCR1</i>) gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes. 31091804 2019
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease HPO
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene. 23406396 2014
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease CTD_human Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease CLINVAR Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 CausalMutation disease CLINVAR Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 26516448 2015
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Our study provides novel insight into the deleterious effects of the R119G and G206W mutations on P5CR, and sheds light on the mechanisms by which these mutations mediate Cutis Laxa. 27677826 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 GeneticVariation disease BEFREE Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. 28294978 2017
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1 		0.660 Biomarker disease GENOMICS_ENGLAND Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. 22829427 2013