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Table 2 Diseases associated with genes containing nsSNPs

From: Characterization of single-nucleotide variation in Indian-origin rhesus macaques (Macaca mulatta)

General Category

# Associated Deleterious SNPs

Gene names

Diseases

Apoptosis

8

CYCS;

Huntington's disease

DNA damage

Alzheimer's disease

  

TNFRSF10D;

Thrombocytopenia

Bipolar

Rheumatoid arthritis

  

CASP7; MAP3K1;

Diabetes mellitus type I

Renal cell carcinoma

Myeloproliferative disorders

  

PRKCZ; MPL;

   
  

TNFRSF19

Leukemia

Diabetes mellitus type II

Amyotrophic lateral Sclerosis

   

Pancreatitis

Carcinoma (multiple types)

Multiple sclerosis

Cell cycle

20

BRCA2; POLD2;

Spontaneous abortion

Genomic instability

Drug toxicity

  

CDC14A; CDT1;

   
  

CHAF1A; WRN;

Endometriosis

Anemia

Li-Fraumeni Syndrome

  

IPO5; KIF23; TTK;

Aneuploidy

Amyotrophic lateral Sclerosis

Diabetes mellitus type I

  

MSH2; CASC5;

   
  

PRKCZ; CASP7;

Carcinoma (multiple types)

Diabetes mellitus type II

Werner Syndrome

  

SERPINB13;

   
  

LATS1

Male infertility

Rheumatoid arthritis

osteoporosis

Development

11

NCOA6; PABPN1;

Carcinoma (multiple types)

Endometriosis

Asthma

  

LTF; MAP3K1;

   
  

TLL1; YAP1; SPEN;

Deglutition disorders

Male infertility

Coronary disease

  

IL18R1

Oculopharyngeal Muscular dystrophy

Li-Fraumeni Syndrome

Idiopathic pulmonary fibrosis

DNA repair

9

BRCA2; CHAF1A;

Genomic instability

Werner Syndrome

Fanconi anemia

  

FANCM; RAD51L1;

Carcinoma (multiple types)

Diabetes mellitus type I

Drug toxicity

  

WRN; MSH2

   

Inflammation

22

CYCS; SOCS6;

Huntington's disease

Severe combined Immunodeficiency

Stomach ulcer

  

BDKRB1; HPRT1;

   
  

IL18R1; IL7R;

Thrombocytopenia

Multiple sclerosis

Ataxia

  

MAP3K1; 1L27RA;

Asthma

Rheumatoid arthritis

Leukemia

  

PRKCZ; OAS2;

Diabetes mellitus type I

Myeloproliferative disorders

Sarcoidosis

  

CD53; LAMA3;

   
  

LAMA4; IL174A;

Diabetic nephropathies

Crohn's disease

Carcinoma (multiple types)

  

HABP2; KLKB1

   
   

Autosomal dominant polycystic kidney

Sjogren's syndrome

Gout

   

Rhinitis

Nasal polyps

Telangiectasis

   

Lesch-Nyhan syndrome

Arteriosclerosis

Genome instability

Metabolism

4

P2RX2; LTF;

Anoxia

Encephalitis

Rheumatoid arthritis

  

ACACB; PRKCZ

Carcinoma (multiple types)

Diabetes mellitus type II

Glomberulonephritis

Nervous System

17

CDK5RAP2;

Microcephaly

Lipodystrophy

Rheumatoid arthritis

  

P2RX2;

Anoxia

Mucolipidoses

Fragile X Syndrome

  

ST8S1A2; HTR1F;

Schizophrenia

Pain

Liver cirrhosis

  

SCN10A; SLC28A2;

Parkinson's disease

Asthma

Diabetes mellitus type I

  

MCOLN1; DLGAP4;

Glioma

Acquired immunodeficiency

 
  

SYT8; ATP2B3;

   
  

MAP1A; LAMA4;

   
  

MAP3K1; AHNAK;

   
  

AFF2; CASP7

   

Protein folding

4

CHAF1A; GRPEL1;

Aneurysm

Pulmonary fibrosis

Diabetes mellitus type I

  

HSPA4; EEF1A2;

   
   

Carcinoma (multiple types)

Graft vs. host disease

Paralysis

Reproduction

13

SPDY1; CENPI;

Gastrointestinal diseases

Hyperaldosteronism

Genomic instability

  

BRCA2; NCOA4;

   
  

RBAK; CASC5;

Carcinoma (multiple types)

Diabetes mellitus type II

Oligospermia

  

PRKCZ; MAP3K1

   
   

anemia

  

Signal transduction

19

BRCA2; CASP7;

Spontaneous abortion

Arteriosclerosis

Dilated cardiomyopathy

  

NCOA6;IL7R;

   
  

CYCS; BAMBI;

Carcinoma (multiple types)

Hypertension

Asthma

  

KLKB1; IL17RA;

   
  

MAP3K1; DSG2;

Huntington's disease

Severe combined immunodeficiency

Sarcoidosis

  

PRKCZ; IFI44;

   
  

IL18R1; HABP2;

Thrombocytopenia

Multiple sclerosis

Diabetes mellitus type I

   

Rheumatoid arthritis

Alzheimer's disease

Arrhythmogenic right ventricular dysplasia

Transcription

8

NCOA6; BRCA2;

Retinoblastoma

Oculopharyngeal muscular dystrophies

Rheumatoid arthritis

  

MAP3K1; TAF3;

   
  

PABPN1

Spontaneous abortion

Aneuploidy

Deglutition disorders

   

Carcinoma (multiple types)

Infertility

 

Transport

11

KCNH3; LTF;

Anemia

Genomic instability

Liver cirrhosis

  

MSH2;NCOA4;

Alzheimer's disease

Crohn's disease

Obesity

  

PPARGC1B;

Epilepsy

Diabetes mellitus type II

Barrett esophagus

  

ZNF217;

Carcinoma (multiple types)

Gastritis

progeria

  

ME2;P2RX2;ANK3;

   
  

LATS1; MAT2A

   
  1. A list of genes containing probably or possibly damaging nsSNPs as predicted by PolyPhen-2 was submitted for network analysis in GeneGo. Characterization of the genes containing nsSNPs is achieved by listing the general cellular process (column 1), the total number of deleterious nsSNPs in the genes that GeneGo annotated (column 2), the genes associated with the cellular process (column 3), and the specific diseases that have been associated by GeneGo with the genes in question (columns 4-6).