NPAP1, nuclear pore associated protein 1, 23742

N. diseases: 66; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 AlteredExpression disease BEFREE Because the Prader-Willi syndrome is known to be caused by the loss of function of paternally expressed genes in 15q11q13, a phenotypic contribution of NPAP1 cannot be excluded. 24482533 2014
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 Biomarker disease BEFREE The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. 22694955 2012
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 Biomarker disease BEFREE These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to PWS. 20020165 2010
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 Biomarker disease BEFREE We conclude that PWRN1 and C15orf2 may play a role in PWS. 17337158 2007
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 Biomarker disease BEFREE Here we report the identification of a novel gene in the PWS critical region, which has been designated "chromosome 15 open reading frame 2" (C15orf2). 10783265 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		0.350 Biomarker disease CTD_human
CUI: C0025202
Disease: melanoma
melanoma 		0.300 Biomarker disease CTD_human Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. 22842228 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.100 Biomarker phenotype HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		0.100 Biomarker phenotype HPO
CUI: C0021359
Disease: Infertility
Infertility 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0028949
Disease: Oligomenorrhea
Oligomenorrhea 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		0.100 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 Biomarker phenotype HPO
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia 		0.100 Biomarker disease HPO