abnormal diencephalon morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex (Mammalian Phenotype Ontology, MP_0000830)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000830
Similar Terms
Downloads & Tools

Genes

220 gene mutations causing the abnormal diencephalon morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADCY1 adenylate cyclase 1 (brain)
AES amino-terminal enhancer of split
AGTPBP1 ATP/GTP binding protein 1
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
ANXA1 annexin A1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APAF1 apoptotic peptidase activating factor 1
ARHGAP35 Rho GTPase activating protein 35
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSG arylsulfatase G
ARX aristaless related homeobox
ASPA aspartoacylase
ATCAY ataxia, cerebellar, Cayman type
ATG5 autophagy related 5
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATRN attractin
ATXN1L ataxin 1-like
AVP arginine vasopressin
B2M beta-2-microglobulin
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BMP4 bone morphogenetic protein 4
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CD247 CD247 molecule
CD40LG CD40 ligand
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CGA glycoprotein hormones, alpha polypeptide
CHD7 chromodomain helicase DNA binding protein 7
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CIT citron rho-interacting serine/threonine kinase
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL18A1 collagen, type XVIII, alpha 1
COL2A1 collagen, type II, alpha 1
CSHL1 chorionic somatomammotropin hormone-like 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYCS cytochrome c, somatic
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DISC1 disrupted in schizophrenia 1
DISP1 dispatched homolog 1 (Drosophila)
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLG5 discs, large homolog 5 (Drosophila)
DMD dystrophin
DPCD deleted in primary ciliary dyskinesia homolog (mouse)
DRD2 dopamine receptor D2
DUOX2 dual oxidase 2
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
E2F5 E2F transcription factor 5, p130-binding
EBF2 early B-cell factor 2
EGR1 early growth response 1
EMX2 empty spiracles homeobox 2
EPHA4 EPH receptor A4
ESR1 estrogen receptor 1
FEZF2 FEZ family zinc finger 2
FGF10 fibroblast growth factor 10
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FKBP8 FK506 binding protein 8, 38kDa
FOXB1 forkhead box B1
FOXC1 forkhead box C1
FOXG1 forkhead box G1
FSHR follicle stimulating hormone receptor
FUZ fuzzy planar cell polarity protein
FYN FYN proto-oncogene, Src family tyrosine kinase
FZD3 frizzled class receptor 3
GAL galanin/GMAP prepropeptide
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRHR growth hormone releasing hormone receptor
GLI3 GLI family zinc finger 3
GM2A GM2 ganglioside activator
GSX1 GS homeobox 1
HAP1 huntingtin-associated protein 1
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HHAT hedgehog acyltransferase
HHEX hematopoietically expressed homeobox
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSF1 heat shock transcription factor 1
HSF2 heat shock transcription factor 2
HTT huntingtin
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
INSM1 insulinoma-associated 1
INTU inturned planar cell polarity protein
IREB2 iron-responsive element binding protein 2
IRS2 insulin receptor substrate 2
ISL1 ISL LIM homeobox 1
KISS1R KISS1 receptor
KL klotho
LATS1 large tumor suppressor kinase 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP1B microtubule-associated protein 1B
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARK2 MAP/microtubule affinity-regulating kinase 2
MBD5 methyl-CpG binding domain protein 5
MBOAT7 membrane bound O-acyltransferase domain containing 7
MECOM MDS1 and EVI1 complex locus
MEN1 multiple endocrine neoplasia I
MKKS McKusick-Kaufman syndrome
MSX1 msh homeobox 1
MT3 metallothionein 3
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
MYH10 myosin, heavy chain 10, non-muscle
NAGLU N-acetylglucosaminidase, alpha
NAPA N-ethylmaleimide-sensitive factor attachment protein, alpha
NBEA neurobeachin
NCOA6 nuclear receptor coactivator 6
NCOR1 nuclear receptor corepressor 1
NDN necdin, melanoma antigen (MAGE) family member
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NEK1 NIMA-related kinase 1
NEUROG2 neurogenin 2
NFIA nuclear factor I/A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX2-1 NK2 homeobox 1
NME7 NME/NM23 family member 7
NOG noggin
NPAS3 neuronal PAS domain protein 3
NPC1 Niemann-Pick disease, type C1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRP2 neuropilin 2
OPHN1 oligophrenin 1
OPN4 opsin 4
OTP orthopedia homeobox
OTX1 orthodenticle homeobox 1
OTX2 orthodenticle homeobox 2
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX2 paired box 2
PAX6 paired box 6
PAX8 paired box 8
PEG3 paternally expressed 3
PFDN5 prefoldin subunit 5
PGAP1 post-GPI attachment to proteins 1
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXNB2 plexin B2
POU1F1 POU class 1 homeobox 1
POU3F2 POU class 3 homeobox 2
POU4F1 POU class 4 homeobox 1
PRL prolactin
PRNP prion protein
PROP1 PROP paired-like homeobox 1
PSEN1 presenilin 1
PTPRS protein tyrosine phosphatase, receptor type, S
RAX retina and anterior neural fold homeobox
RB1 retinoblastoma 1
RND3 Rho family GTPase 3
RPGRIP1L RPGRIP1-like
S1PR1 sphingosine-1-phosphate receptor 1
SCG5 secretogranin V
SCRIB scribbled planar cell polarity protein
SCUBE1 signal peptide, CUB domain, EGF-like 1
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SERP1 stress-associated endoplasmic reticulum protein 1
SH2D3C SH2 domain containing 3C
SHH sonic hedgehog
SHISA2 shisa family member 2
SIM1 single-minded family bHLH transcription factor 1
SIX1 SIX homeobox 1
SIX6 SIX homeobox 6
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLX4 SLX4 structure-specific endonuclease subunit
SMARCC1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOD2 superoxide dismutase 2, mitochondrial
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPAG6 sperm associated antigen 6
SSBP3 single stranded DNA binding protein 3
SYTL4 synaptotagmin-like 4
TAL2 T-cell acute lymphocytic leukemia 2
TBX19 T-box 19
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
TENM2 teneurin transmembrane protein 2
THRB thyroid hormone receptor, beta
TIAM1 T-cell lymphoma invasion and metastasis 1
TP73 tumor protein p73
TPH2 tryptophan hydroxylase 2
TPST2 tyrosylprotein sulfotransferase 2
TPX2 TPX2, microtubule-associated
TRH thyrotropin-releasing hormone
TSHR thyroid stimulating hormone receptor
TUB tubby bipartite transcription factor
UBB ubiquitin B
UCHL5 ubiquitin carboxyl-terminal hydrolase L5
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
ULK4 unc-51 like kinase 4
USP18 ubiquitin specific peptidase 18
VAC14 Vac14 homolog (S. cerevisiae)
VANGL2 VANGL planar cell polarity protein 2
VAX1 ventral anterior homeobox 1
WNT4 wingless-type MMTV integration site family, member 4
WWOX WW domain containing oxidoreductase
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6
ZDHHC13 zinc finger, DHHC-type containing 13
ZIC3 Zic family member 3
ZIC5 Zic family member 5
ZNF423 zinc finger protein 423