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'''p-arm'''
'''p-arm'''
The following are some of the genes located on p-arm (short arm) of human chromosome 1:
The following are some of the genes located on p-arm (short arm) of human chromosome 1:
 
* AADACL3  
AADACL3: Arylacetamide deacetylase-like 3
* AADACL4  
AADACL4: Arylacetamide deacetylase-like 4
* ACADM  
ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain
* ACTL8  
ACTL8: Actin-like 8
* AMPD2  
ADPRHL2: Poly(ADP-ribose) glycohydrolase ARH3
* ATXN7L2  
AMPD2: encoding enzyme AMP deaminase 2
* AZIN2  
ATXN7L2: Ataxin 7-like 2
* BCAS2  
AZIN2: encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)
* C1orf103  
BCAS2: Breast carcinoma amplified sequence 2
* C1orf109  
C1orf103: encoding protein Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1)
* C1orf123  
C1orf109: chromosome 1 open reading frame 109
* CASZ1  
C1orf123: chromosome 1 open reading frame 123
* CMPK  
CASZ1: Castor zinc finger 1
* COL11A1  
CMPK: UMP-CMP kinase
* CPT2  
COL11A1: collagen, type XI, alpha 1
* CRYZ  
CPT2: carnitine palmitoyltransferase II
* CSDE1  
CRYZ: Crystallin zeta
* DBT
CSDE1: Cold shock domain containing E1
* DCLRE1B
DBT: dihydrolipoamide branched chain transacylase E2
* DEPDC1
DCLRE1B: DNA cross-link repair 1B
* DIRAS3
DEPDC1 encoding protein DEP domain containing 1
* DPH5
DIRAS3: DIRAS family, GTP-binding RAS-like 3
* ESPN
DPH5: Diphthine synthase
* EVI5
ESPN: espin (autosomal recessive deafness 36)
* EXTL1
EVI5: ecotropic viral integration site 5
* EXTL2
EXTL1: exostosin like glycosyltransferase 1
* FAM46B
EXTL2: exostosin like glycosyltransferase 2
* FAM46C
FAM46B: family with sequence similarity 46, member B
* FAM76A
FAM46C: family with sequence similarity 46, member C
* FBXO2
FAM76A: family with sequence similarity 76, member A
* FPGT
FBXO2: F-box protein 2
* GALE
FPGT: Fucose-1-phosphate guanylyltransferase
* GBP2
GALE: UDP-galactose-4-epimerase
* GJB3
GBP2: guanylate binding protein 2
* GNL2
GJB3: gap junction protein, beta 3, 31kDa (connexin 31)
* HES2
GNL2: G protein nucleolar 2
* HES3
HES2: Hes family bHLH transcription factor 2
* HMGCL
HES3: Hes family bHLH transcription factor 3
* HAO2
HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)
* HMGCS2
HAO2 encoding protein Hydroxyacid oxidase 2
* HP1BP3
HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2
* IFI6
HP1BP3: Heterochromatin protein 1, binding protein 3
* INTS11
IFI6: Interferon alpha-inducible protein 6
* KCNQ4
INTS11: Integrator complex subunit 11
* KIF1B
KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4
* L1TD1
KIF1B: kinesin family member 1B
* LRRC39
L1TD1: LINE-1 type transposase domain containing 1
* LRRC40
LRRC39: Leucine-rich repeat-containing protein 39
* LRRC41
LRRC40: Leucine-rich repeat-containing protein 40
* LRRC8D
LRRC41: Leucine-rich repeat-containing protein 41
* MAN1A2
LRRC8D: Leucine-rich repeat-containing protein 8D
* MEAF
MAN1A2: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB
* MECR
MEAF6: MYST/ESA1 associated factor 6
* MFAP2
MECR: Trans-2-enoyl-CoA reductase, mitochondrial
* MFN2
MFAP2: Microfibrillar-associated protein 2
* MFSD2
MFN2: mitofusin 2
* MIR6079
MFSD2: Major facilitator superfamily domain containing 2A
* MMEL1
MIR6079: microRNA 6079
* MTFR1L
MMEL1: Membrane metallo-endopeptidase-like 1
* MTHFR
MTFR1L: mitochondrial fission regulator 1 like
* MUL1
MTHFR: 5,10-methylenetetrahydrofolate reductase (NADPH)
* MUTYH
MUL1: Mitochondrial E3 ubiquitin protein ligase 1
* NBPF3
MUTYH: mutY homolog (E. coli)
* NGF
NBPF3: Neuroblastoma breakpoint family member 3
* NOL9
NGF: Nerve Growth Factor
* OLFML3
NOL9: Nucleolar protein 9
* OMA1
OLFML3: Olfactomedin-like 3
* OVGP1
OMA1: Metalloendopeptidase OMA1, mitochondrial
* PARK7
OVGP1: Oviductal glycoprotein 1
* PINK1
PARK7: Parkinson disease (autosomal recessive, early onset) 7
* PLOD1
PINK1: PTEN induced putative kinase 1
* PRMT6
PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
* PSRC1
PRMT6: Protein arginine methyltransferase 6
* RAD54
PSRC1: Proline/serine-rich coiled-coil protein 1
* RCC2
RAD54L: RAD54-like
* RHBDL2
RCC2: Regulator of chromosome condensation 2
* RLF
RHBDL2: Rhomboid like 2
* RNF220
RLF: rearranged L-myc fusion
* SDC3
RNF220: RING finger protein 220
* SGIP1
SDC3: Syndecan-3
* SH3BGRL3
SGIP1: SH3 domain GRB2-like protein 3-interaction protein 1
* SPSB1
SH3BGRL3: SH3 domain-binding glutamic acid-rich-like protein 3
* SYCP1
SPSB1: SPRY domain-containing SOCS box protein 1
* SZT2
SYCP1: Synaptonemal complex protein 1
* TACSTD2
SZT2: Seizure threshold 2 homolog
* TCEB3
TACSTD2: tumour-associated calcium signal transducer 2
* TMCO4
TCEB3: Transcription elongation factor B polypeptide 3
* TMEM48
TMCO4: encoding protein transmembrane and coiled-coil domains 4
* TMEM50A
TMEM48: encoding protein nucleoporin NDC1
* TMEM59
TMEM50A: Transmembrane protein 50A
* TMEM69
TMEM59: Transmembrane protein 59
* TMEM222
TMEM69: Transmembrane protein 69
* TOE1
TMEM222: Transmembrane protein 222
* TRAPPC3
TOE1: Target of EGR1 protein 1
* TRIT1
TRAPPC3: Trafficking protein particle complex subunit 3
* TSHB
TRIT1: tRNA isopentenyltransferase, mitochondrial
* TTC39A
TSHB: thyroid stimulating hormone, beta
* UBR4
TTC39A: Tetratricopeptide repeat 39A
* UROD
UBR4: E3 ubiquitin-protein ligase component n-recognin 4
* USP48
UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)
* VPS13D
USP48: Ubiquitin carboxyl-terminal hydrolase 48
* WARS2
VPS13D: Vacuolar protein sorting-associated protein 13D
* ZCCHC17
WARS2: Tryptophanyl-tRNA synthetase, mitochondrial
* ZMYM1
ZCCHC17: zinc finger CCHC-type containing 17
* ZNF436
ZMYM1 encoding protein Zinc finger MYM-type containing 1
* ZZZ3
ZNF436: Zinc finger protein 436
'''q arm'''
ZYG11B encoding protein Zyg-11 family member B, cell cycle regulator
* AHCTF1
ZZZ3: ZZ-type zinc finger-containing protein 3
* ANGPTL1
'''q-arm'''
* ARID4B
The following are some of the genes located on q-arm (long arm) of human chromosome 1:
* ASPM
 
* C1orf21
AHCTF1: encoding protein ELYS
* C1orf35
ANGPTL1: Angiopoietin-related protein 1
* C1orf49
ARID4B: encoding protein AT-rich interactive domain-containing protein 4B
* C1orf74
ASPM: a brain size determinant
* C1orf106
C1orf21: chromosome 1 open reading frame 21
* CD5L
C1orf35 encoding protein Chromosome 1 open reading frame 35
* CENPL
C1orf49: chromosome 1 open reading frame 49
* CHTOP
C1orf74: chromosome 1 open reading frame 74
* CNIH4
C1orf106: chromosome 1 open reading frame 106
* CNST
CD5L: CD5 molecule like
* CREG1
CENPL: Centromere protein L
* CRP
CHTOP: Chromatin target of prmt1
* CSRP1
CNIH4: cornichon homolog 4
* DDX59
CNST: Consortin
* DPT
CREG1: Cellular repressor of E1A stimulated genes 1
* DNAH14  
CRP: C-reactive protein
* EDEM3
CSRP1: Cysteine and glycine rich protein 1
* F5
DDX59: DEAD-box helicase 59
* FAM20B
DPT: Dermatopontin
* FAM63A
DNAH14 encoding protein Dynein, axonemal, heavy chain 14
* FAM78B
EDEM3: ER degradation enhancing alpha-mannosidase like protein 3
* FAM129A
F5: coagulation factor V (proaccelerin, labile factor)
* FBXO28
FAM20B: FAM20B, glycosaminoglycan xylosylkinase
* FCMR
FAM63A: Family with sequence similarity 63, member A
* FMO3
FAM78B: family with sequence similarity 78, member B
* GBA
FAM129A: family with sequence similarity 129, member A
* GBAP1
FBXO28: F-box protein 28
* GLC1A
FCMR: Fc fragment of IgM receptor
* GON4L
FMO3: flavin containing monooxygenase 3
* HEATR1
GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)
* HFE2
GBAP1: glucosylceramidase beta pseudogene 1
* HIST2H2AB
GLC1A: gene for glaucoma
* HIST2H2BF
GON4L: gon-4 like
* HIST2H3PS2
GPR37L1 G protein-coupled receptor 37 like 1
* HIST3H2A
HEATR1: HEAT repeat-containing protein 1
* HIST3H2BB
HFE2: hemochromatosis type 2 (juvenile)
* HPC1
HIST2H2AB: Histone 2A type 2-B
* INTS3
HIST2H2BF: Histone H2B type 2-F
* IRF6
HIST2H3PS2: Histone cluster 2, H3, pseudogene 2
* LEFTY1
HIST3H2A: Histone H2A type 3
* LMNA
HIST3H2BB: Histone H2B type 3-B
* LYPLAL1
HPC1: gene for prostate cancer
* MIR194-1
INTS3: Integrator complex subunit 3
* MIR5008
IRF6: gene for connective tissue formation
* MPC2
LEFTY1: Left-right determination factor 1
* MOSC1
LMNA: lamin A/C
* MOSC2
LYPLAL1: Lysophospholipase-like 1
* MPZ
MIR194-1: microRNA 194-1
* MSTO1
MIR5008: microRNA 5008
* NAV1
MPC2: Mitochondrial pyruvate carrier 2
* NBPF1
MOSC1: MOCO sulphurase C-terminal domain containing 1
* NOC2L
MOSC2: MOSC domain-containing protein 2, mitochondrial
* NUCKS1
MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)
* NVL
MSTO1: misato 1
* OLFML2B
MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase
* OPTC
NAV1: Neuron navigator 1
* OTUD7B
NBPF16: Neuroblastoma breakpoint family, member 16
* PGDB5
NOC2L: Nucleolar complex protein 2 homolog
* PI4KB
NUCKS1: Nuclear ubiquitous casein and cyclin-dependent kinases substrate
* PIP5K1A
NVL: Nuclear valosin-containing protein-like
* PPOX
OLFML2B: Olfactomedin-like 2B
* PRR9
OPTC: Opticin
* PSEN2
OTUD7B: OTU domain-containing protein 7B
* RABIF
PGDB5: PiggyBac transposable element derived 5
* RN5S1
PI4KB: Phosphatidylinositol 4-kinase beta
* SCAMP3
PIP5K1A: Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha
* SDHB
PPOX: protoporphyrinogen oxidase
* SLC50A1
PRR9 encoding protein Proline rich 9
* SMCP
PSEN2: presenilin 2 (Alzheimer disease 4)
* SMG7
RABIF: RAB interacting factor
* SPRR1A
RN5S1@: RNA, 5S ribosomal 1q42 cluster
* SPRR1B
SCAMP3: Secretory carrier-associated membrane protein 3
* SPRR2A
SDHB: succinate dehydrogenase complex subunit B
* SPRTN
SLC50A1: Solute carrier family 50 member 1
* TARBP1
SMCP: Sperm mitochondrial-associated cysteine-rich protein
* TBCE
SMG7: nonsense mediated mRNA decay factor
* THBS3
SPRR1A: Cornifin-A
* TMCO1
SPRR1B: Cornifin-B
* TMEM9
SPRR2A: Small proline rich protein 2A
* TMEM63A
SPRTN: Spartan
* TNNT2
TARBP1: TAR (HIV-1) RNA-binding protein 1
* TOR1AIP1
TBCE: Tubulin-specific chaperone E
* UAP1
THBS3: Thrombospondin 3
* USH2A
TMCO1: Transmembrane and coiled-coil domain-containing protein 1
* VPS45
TMEM9: Transmembrane protein 9
* VPS72
TMEM63A: Transmembrane protein 63A
* YY1AP1
TNNT2: cardiac troponin T2
* ZBED6
TOR1AIP1: Torsin-1A-interacting protein 1
* ZC3H11A
UAP1: UDP-N-acetylhexosamine pyrophosphorylase
* ZNF687
USH2A: Usher syndrome 2A (autosomal recessive, mild)
* ZNF648  
VPS45: Vacuolar protein sorting-associated protein 45
* ZNF695
VPS72: Vacuolar protein sorting-associated protein 72
YY1AP1: YY1-associated protein 1
ZBED6: Zinc finger, BED-type containing 6
ZC3H11A: Zing finger CCCH domain-containing protein 11A
ZNF687: zing finger protein 687
ZNF648 encoding protein Zinc finger protein 648
ZNF695: Zinc
 


===Preferred Table===
===Preferred Table===
Line 350: Line 342:
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Acute liver failure
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Acute liver failure
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |+
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" |+/-
| style="background: #F5F5F5; padding: 5px;" | +/-
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
| style="background: #F5F5F5; padding: 5px;" |<nowiki>+</nowiki>
| style="background: #F5F5F5; padding: 5px;" |-
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | -
| style="background: #F5F5F5; padding: 5px;" | +
| style="background: #F5F5F5; padding: 5px;" | +

Revision as of 19:34, 28 November 2017

Genes

TMEM67 TTC21B WDR19 ZNF423 CEP164 ANKS6 INPP5E TMEM216 AHI1 NPHP1 CEP290 RPGRIP1L ARL13B CC2D2A OFD1 TTC21B KIF7 TCTN1 CEP41 TMEM138 C5orf42 TCTN3 ZNF423 TMEM231 TCTN2 BBS1 BBS2 ARL6 BBS4 BBS5 MKKS BBS7 TTC8 BBS9 BBS10 TRIM32 BBS12 MKS1 CEP290 MKS1 CC2D2A NPHP3 B9D1 B9D2 IFT122 EVC EVC2 IFT80 OFD1 PKD1 PKD2 Timp1 CALHM1 GST01 PAX1P1 PLD3 TOMM40 UNC5C SLC24A4 PTK2B ZCWPW1 CELF1 FERMT2 CASS4 INPP5D NME8 UBQLN1 GSD 1 GSD type 1a GSD type 1b FAM111A CHD7 G744S AIRE

=Chromosome 1

p-arm The following are some of the genes located on p-arm (short arm) of human chromosome 1:

  • AADACL3
  • AADACL4
  • ACADM
  • ACTL8
  • AMPD2
  • ATXN7L2
  • AZIN2
  • BCAS2
  • C1orf103
  • C1orf109
  • C1orf123
  • CASZ1
  • CMPK
  • COL11A1
  • CPT2
  • CRYZ
  • CSDE1
  • DBT
  • DCLRE1B
  • DEPDC1
  • DIRAS3
  • DPH5
  • ESPN
  • EVI5
  • EXTL1
  • EXTL2
  • FAM46B
  • FAM46C
  • FAM76A
  • FBXO2
  • FPGT
  • GALE
  • GBP2
  • GJB3
  • GNL2
  • HES2
  • HES3
  • HMGCL
  • HAO2
  • HMGCS2
  • HP1BP3
  • IFI6
  • INTS11
  • KCNQ4
  • KIF1B
  • L1TD1
  • LRRC39
  • LRRC40
  • LRRC41
  • LRRC8D
  • MAN1A2
  • MEAF
  • MECR
  • MFAP2
  • MFN2
  • MFSD2
  • MIR6079
  • MMEL1
  • MTFR1L
  • MTHFR
  • MUL1
  • MUTYH
  • NBPF3
  • NGF
  • NOL9
  • OLFML3
  • OMA1
  • OVGP1
  • PARK7
  • PINK1
  • PLOD1
  • PRMT6
  • PSRC1
  • RAD54
  • RCC2
  • RHBDL2
  • RLF
  • RNF220
  • SDC3
  • SGIP1
  • SH3BGRL3
  • SPSB1
  • SYCP1
  • SZT2
  • TACSTD2
  • TCEB3
  • TMCO4
  • TMEM48
  • TMEM50A
  • TMEM59
  • TMEM69
  • TMEM222
  • TOE1
  • TRAPPC3
  • TRIT1
  • TSHB
  • TTC39A
  • UBR4
  • UROD
  • USP48
  • VPS13D
  • WARS2
  • ZCCHC17
  • ZMYM1
  • ZNF436
  • ZZZ3

q arm

  • AHCTF1
  • ANGPTL1
  • ARID4B
  • ASPM
  • C1orf21
  • C1orf35
  • C1orf49
  • C1orf74
  • C1orf106
  • CD5L
  • CENPL
  • CHTOP
  • CNIH4
  • CNST
  • CREG1
  • CRP
  • CSRP1
  • DDX59
  • DPT
  • DNAH14
  • EDEM3
  • F5
  • FAM20B
  • FAM63A
  • FAM78B
  • FAM129A
  • FBXO28
  • FCMR
  • FMO3
  • GBA
  • GBAP1
  • GLC1A
  • GON4L
  • HEATR1
  • HFE2
  • HIST2H2AB
  • HIST2H2BF
  • HIST2H3PS2
  • HIST3H2A
  • HIST3H2BB
  • HPC1
  • INTS3
  • IRF6
  • LEFTY1
  • LMNA
  • LYPLAL1
  • MIR194-1
  • MIR5008
  • MPC2
  • MOSC1
  • MOSC2
  • MPZ
  • MSTO1
  • NAV1
  • NBPF1
  • NOC2L
  • NUCKS1
  • NVL
  • OLFML2B
  • OPTC
  • OTUD7B
  • PGDB5
  • PI4KB
  • PIP5K1A
  • PPOX
  • PRR9
  • PSEN2
  • RABIF
  • RN5S1
  • SCAMP3
  • SDHB
  • SLC50A1
  • SMCP
  • SMG7
  • SPRR1A
  • SPRR1B
  • SPRR2A
  • SPRTN
  • TARBP1
  • TBCE
  • THBS3
  • TMCO1
  • TMEM9
  • TMEM63A
  • TNNT2
  • TOR1AIP1
  • UAP1
  • USH2A
  • VPS45
  • VPS72
  • YY1AP1
  • ZBED6
  • ZC3H11A
  • ZNF687
  • ZNF648
  • ZNF695

Preferred Table

Diseases History and Symptoms Physical Examination Laboratory Findings Other Findings
Fever Icterus Abdominal pain Peripheral edema Chest pain Jugular vein distension Hepatomegaly Skin rash Edema Spider angiomata Serum to ascites albumin gradient (SAAG) Ascitic fluid:
  • Exudative Vs Transudative
  • Colour
CBC
Hepatic causes Cirrhosis - + - - - + - - - +  ≥1.1
  • Transudate
  • Opalescent
Budd chiari syndrome - + - - - - + - - +
Acute liver failure + + +/- + - - + +/- + -
Alcoholic hepatitis - - - - - - + - - -
GI causes Whipple disease + - + - - - - - - - <1.1
Peritonitis + - + - - - - - - -  ≥1.1 or <1.1
  • Exudate
  • Turbid or cloudy
Pancreatitis + (Severe pancreatitis) - - - - - - + (In rare cases) - - <1.1
Amylase level >100 units/L in the ascitic fluid
Cardiac causes CHF - - - + + + + (In Rt heart failure) - + - ≥1.1
Pericarditis + - - - + + + - - -  ≥1.1
Renal cause Nephrotic syndrome - - - + - - - - + - <1.1
Other causes Sarcoidosis + - - - + - + + - -
SLE + - - - - - - + - -
TB + - - - + - - + (In Cutaneous TB) - -  ≥1.1 or <1.1
Hypothyroidism - + (Myxedematous edema) - - - + (Myxedematous edema) - Low TSH level
Cancer - +/- +/- - +/-  ≥1.1 Tumor markers for determination of the cancer type