Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 579
Gene Symbol: NKX3-2
NKX3-2
NK3 homeobox 2 0.736 0.308 0.64
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
chromodomain helicase DNA binding protein 8 0.656 0.577 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.490 None 1.000 0 0 2012 2020
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
intraflagellar transport 80 0.575 0.692 1.4E-19
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
coiled-coil and C2 domain containing 2A 0.532 0.692 1.7E-27
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
WD repeat domain 35 0.525 0.692 1.0E-22
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
parathyroid hormone like hormone 0.453 0.846 0.81
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
patched 1 0.398 0.885 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
inositol polyphosphate-5-phosphatase E 0.561 0.615 3.1E-03
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
ANKH inorganic pyrophosphate transport regulator 0.606 0.692 0.28
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
mitogen-activated protein kinase kinase 2 0.534 0.731 0.97
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
mitogen-activated protein kinase kinase 1 0.439 0.846 0.90
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
ER membrane associated RNA degradation 0.647 0.538 5.8E-16
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
peroxisomal biogenesis factor 26 0.584 0.615 0.93
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 0.537 0.538 1.9E-20
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
peroxisomal biogenesis factor 19 0.585 0.731 3.2E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
peroxisomal biogenesis factor 2 0.582 0.654 2.6E-04
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
bone morphogenetic protein receptor type 1A 0.522 0.731 0.90
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
UPF3B regulator of nonsense mediated mRNA decay 0.619 0.615 0.98
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 650
Gene Symbol: BMP2
BMP2
bone morphogenetic protein 2 0.432 0.846 0.99
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
SIM bHLH transcription factor 1 0.626 0.654 1.00
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease 0.100 None 0 0