Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55765
Gene Symbol: INAVA
INAVA
CUI: C4748083
Disease: INFLAMMATORY BOWEL DISEASE 29
INFLAMMATORY BOWEL DISEASE 29 		0.300 GeneticVariation UNIPROT Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784

2011
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. 19438907

2010
Entrez Id: 402381
Gene Symbol: SOHLH1
SOHLH1
CUI: C4748253
Disease: SPERMATOGENIC FAILURE 32
SPERMATOGENIC FAILURE 32 		0.300 GeneticVariation UNIPROT Mutations in SOHLH1 gene associate with nonobstructive azoospermia. 20506135

2010
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.300 GeneticVariation UNIPROT IDH1 and IDH2 mutations in gliomas. 19228619

2009
Entrez Id: 846
Gene Symbol: CASR
CASR
CUI: C2752062
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 		0.300 GeneticVariation UNIPROT An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. 18756473

2008
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C4551904
Disease: Total Anomalous Pulmonary Venous Return 1
Total Anomalous Pulmonary Venous Return 1 		0.300 GeneticVariation UNIPROT Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return. 18273862

2008
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Growth differentiating factor-9 mutations may be associated with premature ovarian failure. 17156781

2007
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure. 16278619

2007
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. 17482612

2007
Entrez Id: 6793
Gene Symbol: STK10
STK10
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.300 GeneticVariation UNIPROT Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. 16175573

2006
Entrez Id: 50489
Gene Symbol: CD207
CD207
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY 		0.300 GeneticVariation UNIPROT Polymorphisms in human langerin affect stability and sugar binding activity. 16567809

2006
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.300 GeneticVariation UNIPROT Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. 16790700

2006
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. 16645022

2006
Entrez Id: 2661
Gene Symbol: GDF9
GDF9
CUI: C4693941
Disease: PREMATURE OVARIAN FAILURE 14
PREMATURE OVARIAN FAILURE 14 		0.300 GeneticVariation UNIPROT Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. 16954162

2006
Entrez Id: 50489
Gene Symbol: CD207
CD207
CUI: C3150657
Disease: BIRBECK GRANULE DEFICIENCY
BIRBECK GRANULE DEFICIENCY 		0.300 GeneticVariation UNIPROT A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene. 15816828

2005
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
CUI: C3277701
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 		0.300 GeneticVariation UNIPROT A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. 16015369

2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C4551959
Disease: ATRIAL STANDSTILL 1
ATRIAL STANDSTILL 1 		0.300 GeneticVariation UNIPROT A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. 12522116

2003
Entrez Id: 9119
Gene Symbol: KRT75
KRT75
CUI: C0406468
Disease: Loose Anagen Hair Syndrome
Loose Anagen Hair Syndrome 		0.300 GeneticVariation UNIPROT Another keratin, and possibly the type I partner of K6hf, could be responsible for loose anagen hair syndrome in other patients, or the gene involved may be a minor gene. 11939812

2002
Entrez Id: 1545
Gene Symbol: CYP1B1
CYP1B1
CUI: C1842028
Disease: GLAUCOMA 1, OPEN ANGLE, A
GLAUCOMA 1, OPEN ANGLE, A 		0.300 GeneticVariation UNIPROT Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. 11774072

2002
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
CUI: C2675517
Disease: ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.300 GeneticVariation UNIPROT Genomic structure and mutations in adipose-specific gene, adiponectin. 10918532

2000
Entrez Id: 4538
Gene Symbol: ND4
ND4
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.300 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996
Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		0.300 GeneticVariation UNIPROT Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. 8104867

1993
Entrez Id: 4536
Gene Symbol: ND2
ND2
CUI: C1838990
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL
ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 		0.300 GeneticVariation UNIPROT Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains. 1370613

1992
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.300 GeneticVariation UNIPROT

Entrez Id: 5429
Gene Symbol: POLH
POLH
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation UNIPROT