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Results for the Protein: Q9UBX0
12230168

HESX1_HUMAN RecName: Full=Homeobox expressed in ES cells 1; AltName: Full=Homeobox protein ANF; Short=hAnf

Known Diseases associated with this Protein:
  GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
  GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES (GHDPA)
  PITUITARY HORMONE DEFICIENCY, COMBINED, 5
  PITUITARY HORMONE DEFICIENCY, COMBINED, 5 (CPHD5)
  SEPTOOPTIC DYSPLASIA
  SEPTOOPTIC DYSPLASIA (SOD)
  SEPTOOPTIC DYSPLASIA, MILD
12
1
6
1
6
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HOX - smart00389


Swiss-Prot Protein: Q9UBX0
Identical to: NP_003856
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010225Diseasep.ARG160CYSSeptooptic dysplasia (SOD)
dbSNPrs9878928 Polymorphismp.ASN125SERN/A
Swiss-ProtVAR_063230Diseasep.GLN6HISPituitary hormone deficiency, combined, 5 (CPHD5)
Swiss-ProtVAR_063232Diseasep.GLU149LYSGrowth hormone deficiency with pituitary anomalies (GHDPA)
Swiss-ProtVAR_063231Diseasep.ILE26THRPituitary hormone deficiency, combined, 5 (CPHD5)
Swiss-ProtVAR_063233Diseasep.SER170LEUSeptooptic dysplasia (SOD)
Swiss-ProtVAR_063234Diseasep.THR181ALAGrowth hormone deficiency with pituitary anomalies (GHDPA)
OMIM601802.0001 Diseasep.ARG160CYSSEPTOOPTIC DYSPLASIA
OMIM601802.0010 Diseasep.GLN6HISPITUITARY HORMONE DEFICIENCY, COMBINED, 5
OMIM601802.0009 Diseasep.GLU149LYSGROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
OMIM601802.0005 Diseasep.ILE26THRPITUITARY HORMONE DEFICIENCY, COMBINED, 5
OMIM601802.0002 Diseasep.SER170LEUSEPTOOPTIC DYSPLASIA, MILD
OMIM601802.0003 Diseasep.THR181ALAGROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES



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