long fingers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. (Human Phenotype Ontology, HP_0100807)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100807
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Genes

99 genes associated with the long fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACSL4 acyl-CoA synthetase long-chain family member 4
ACTG2 actin, gamma 2, smooth muscle, enteric
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCR breakpoint cluster region
BMP1 bone morphogenetic protein 1
BMP15 bone morphogenetic protein 15
CBS cystathionine-beta-synthase
CDKL5 cyclin-dependent kinase-like 5
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CNTN1 contactin 1
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
CPT2 carnitine palmitoyltransferase 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CTSC cathepsin C
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
DLX5 distal-less homeobox 5
DSE dermatan sulfate epimerase
ECE1 endothelin converting enzyme 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
FSHR follicle stimulating hormone receptor
GATA2 GATA binding protein 2
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
HDAC8 histone deacetylase 8
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
INPPL1 inositol polyphosphate phosphatase-like 1
IRX5 iroquois homeobox 5
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNE5 potassium channel, voltage gated subfamily E regulatory beta subunit 5
KDM5C lysine (K)-specific demethylase 5C
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MPST mercaptopyruvate sulfurtransferase
MTM1 myotubularin 1
NELFA negative elongation factor complex member A
NPR2 natriuretic peptide receptor 2
NR2F1 nuclear receptor subfamily 2, group F, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PEPD peptidase D
PHF6 PHD finger protein 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POR P450 (cytochrome) oxidoreductase
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SCARF2 scavenger receptor class F, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SIM1 single-minded family bHLH transcription factor 1
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SMS spermine synthase
SNIP1 Smad nuclear interacting protein 1
TBX2 T-box 2
TBX4 T-box 4
TCF4 transcription factor 4
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
ZDHHC9 zinc finger, DHHC-type containing 9