Name

HAND2 Gene

heart and neural crest derivatives expressed 2

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. [provided by RefSeq, Jul 2008]

HAND2-AS1 Gene

HAND2 antisense RNA 1 (head to head)

HAND1 Gene

heart and neural crest derivatives expressed 1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

MDBS2 Gene

butterfly-shaped pigmentary macular dystrophy 2

OPN1MW Gene

opsin 1 (cone pigments), medium-wave-sensitive

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

OPN1SW Gene

opsin 1 (cone pigments), short-wave-sensitive

This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

OPN1LW Gene

opsin 1 (cone pigments), long-wave-sensitive

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]

PRCD Gene

progressive rod-cone degeneration

This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]

COD2 Gene

cone dystrophy 2 (X-linked)

CRX Gene

cone-rod homeobox

The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

CORD8 Gene

cone rod dystrophy 8

CORD1 Gene

cone rod dystrophy 1 (autosomal dominant)

CORD4 Gene

cone rod dystrophy 4

OPN1MW2 Gene

opsin 1 (cone pigments), medium-wave-sensitive 2

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]

PDE6C Gene

phosphodiesterase 6C, cGMP-specific, cone, alpha prime

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

PDE6H Gene

phosphodiesterase 6H, cGMP-specific, cone, gamma

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

RCD1 Gene

retinal cone dystrophy 1

CORD17 Gene

cone rod dystrophy 17 (autosomal dominant)

cone-shaped epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphyses of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphyses of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphyses of phalanges 2 to 5 Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphyses of phalanges 2 to 5 phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped metacarpal epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped metacarpal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bracket epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the bracket epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ivory epiphyses of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ivory epiphyses of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bracket epiphyses of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the bracket epiphyses of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thin proximal phalanges with broad epiphyses of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the thin proximal phalanges with broad epiphyses of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ivory epiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ivory epiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bullet-shaped phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the bullet-shaped phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

thimble-shaped middle phalanges of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the thimble-shaped middle phalanges of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bullet-shaped middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the bullet-shaped middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped phalanges of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped phalanges of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tombstone-shaped proximal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the tombstone-shaped proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped epiphysis of the 1st metacarpal Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped epiphysis of the 1st metacarpal phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-shaped capital femoral epiphysis Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-shaped capital femoral epiphysis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the broad phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symphalangism affecting the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the symphalangism affecting the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete duplication of the distal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of the distal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

symphalangism affecting the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the symphalangism affecting the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete duplication of the middle phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of the middle phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pseudoepiphyses of the phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the pseudoepiphyses of the phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pseudoepiphyses of the proximal phalanges of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the pseudoepiphyses of the proximal phalanges of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

deviation of the hand or of fingers of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the deviation of the hand or of fingers of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

radial deviation of the hand or of fingers of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the radial deviation of the hand or of fingers of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ulnar deviation of the hand or of fingers of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ulnar deviation of the hand or of fingers of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bracket epiphyses of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the bracket epiphyses of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

small proximal tibial epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the small proximal tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fragmented, irregular epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the fragmented, irregular epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the distal phalanx of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the distal phalanx of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bracket epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the bracket epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

small epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the small epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicentric ossification of proximal femoral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the multicentric ossification of proximal femoral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

multicentric ossification of proximal humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the multicentric ossification of proximal humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad metacarpal epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the broad metacarpal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bulging epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the bulging epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of metacarpal epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of metacarpal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bracket epiphyses of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the bracket epiphyses of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent knee epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the absent knee epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

stippled calcification proximal humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the stippled calcification proximal humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular epiphyses of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular epiphyses of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

premature fusion of phalangeal epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the premature fusion of phalangeal epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular ossification of the humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular ossification of the humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

wide capital femoral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the wide capital femoral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular proximal tibial epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular proximal tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fragmented epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the fragmented epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

splayed epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the splayed epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ivory epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the ivory epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the absent epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of tibial epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of tibial epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

stippled calcification of the humeral epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the stippled calcification of the humeral epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

enlarged epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the enlarged epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

flattened, squared-off epiphyses of tubular bones Gene Set

From HPO Gene-Disease Associations

genes associated with the flattened, squared-off epiphyses of tubular bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the ulnar epiphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the ulnar epiphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the epiphyses of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the epiphyses of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shaped Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term shaped in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

metanephric s-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the metanephric s-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

comma-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the comma-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

regulation of metanephric s-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the regulation of metanephric s-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

s-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the s-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

negative regulation of metanephric comma-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of metanephric comma-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

negative regulation of metanephric s-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of metanephric s-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

regulation of metanephric comma-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the regulation of metanephric comma-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

metanephric comma-shaped body morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the metanephric comma-shaped body morphogenesis biological process from the curated GO Biological Process Annotations dataset.

u-shaped upper lip vermilion Gene Set

From HPO Gene-Disease Associations

genes associated with the u-shaped upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

y-shaped metacarpals Gene Set

From HPO Gene-Disease Associations

genes associated with the y-shaped metacarpals phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dumbbell-shaped long bone Gene Set

From HPO Gene-Disease Associations

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

almond-shaped palpebral fissure Gene Set

From HPO Gene-Disease Associations

genes associated with the almond-shaped palpebral fissure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped middle phalanx of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped middle phalanx of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

club-shaped proximal femur Gene Set

From HPO Gene-Disease Associations

genes associated with the club-shaped proximal femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

j-shaped sella turcica Gene Set

From HPO Gene-Disease Associations

genes associated with the j-shaped sella turcica phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

barrel-shaped chest Gene Set

From HPO Gene-Disease Associations

genes associated with the barrel-shaped chest phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pear-shaped vertebrae Gene Set

From HPO Gene-Disease Associations

genes associated with the pear-shaped vertebrae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dagger-shaped pulp calcifications Gene Set

From HPO Gene-Disease Associations

genes associated with the dagger-shaped pulp calcifications phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped middle phalanx of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped middle phalanx of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cuboid-shaped vertebral bodies Gene Set

From HPO Gene-Disease Associations

genes associated with the cuboid-shaped vertebral bodies phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular-shaped open mouth Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular-shaped open mouth phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

peg-shaped maxillary lateral incisors Gene Set

From HPO Gene-Disease Associations

genes associated with the peg-shaped maxillary lateral incisors phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pear-shaped nose Gene Set

From HPO Gene-Disease Associations

genes associated with the pear-shaped nose phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

subsarcolemmal accumulations of abnormally shaped mitochondria Gene Set

From HPO Gene-Disease Associations

genes associated with the subsarcolemmal accumulations of abnormally shaped mitochondria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped middle phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped middle phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dumbbell-shaped metaphyses Gene Set

From HPO Gene-Disease Associations

genes associated with the dumbbell-shaped metaphyses phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

screwdriver-shaped incisors Gene Set

From HPO Gene-Disease Associations

genes associated with the screwdriver-shaped incisors phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

chin with h-shaped crease Gene Set

From HPO Gene-Disease Associations

genes associated with the chin with h-shaped crease phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

bell-shaped thorax Gene Set

From HPO Gene-Disease Associations

genes associated with the bell-shaped thorax phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

club-shaped distal femur Gene Set

From HPO Gene-Disease Associations

genes associated with the club-shaped distal femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormally shaped carpal bones Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormally shaped carpal bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

halberd-shaped pelvis Gene Set

From HPO Gene-Disease Associations

genes associated with the halberd-shaped pelvis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hump-shaped mound of bone in central and posterior portions of vertebral endplate Gene Set

From HPO Gene-Disease Associations

genes associated with the hump-shaped mound of bone in central and posterior portions of vertebral endplate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

triangular shaped proximal phalanx of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the triangular shaped proximal phalanx of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dumbbell-shaped femur Gene Set

From HPO Gene-Disease Associations

genes associated with the dumbbell-shaped femur phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ALIX V-shaped domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ALIX V-shaped domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

irregularly shaped pupil Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the irregularly shaped pupil phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cup-shaped ears Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cup-shaped ears phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) Gene Set

From OMIM Gene-Disease Associations

genes associated with the nail disorder, nonsyndromic congenital, 10, (claw-shaped nails) phenotype from the curated OMIM Gene-Disease Associations dataset.

wide tufts of distal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the wide tufts of distal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tapering pointed ends of distal finger phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the tapering pointed ends of distal finger phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

drumstick terminal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the drumstick terminal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the middle phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the middle phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 5th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 5th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

broad distal phalanges of all fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the broad distal phalanges of all fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 4th finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 4th finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dysplastic distal thumb phalanges with a central hole Gene Set

From HPO Gene-Disease Associations

genes associated with the dysplastic distal thumb phalanges with a central hole phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

widened distal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the widened distal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all proximal phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all proximal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 3rd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 3rd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all middle phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all middle phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the middle phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the middle phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

metaphyseal cupping of proximal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the metaphyseal cupping of proximal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the distal phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the distal phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all distal phalanges of the fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all distal phalanges of the fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the thumb Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the thumb phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the 2nd finger Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the 2nd finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypoplasia of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the hypoplasia of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent distal phalanges Gene Set

From HPO Gene-Disease Associations

genes associated with the absent distal phalanges phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

shortening of all phalanges of fingers Gene Set

From HPO Gene-Disease Associations

genes associated with the shortening of all phalanges of fingers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

tapered distal phalanges of finger Gene Set

From HPO Gene-Disease Associations

genes associated with the tapered distal phalanges of finger phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the phalanges of the toes Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the phalanges of the toes phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

acroosteolysis of distal phalanges (feet) Gene Set

From HPO Gene-Disease Associations

genes associated with the acroosteolysis of distal phalanges (feet) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the phalanges of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the phalanges of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the phalanges of the hallux Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the phalanges of the hallux phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

fused phalanges Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the fused phalanges phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Cone-rod dystrophy 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone dystrophy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone dystrophy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone dystrophy 3 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone dystrophy 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy, X-linked 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy, X-linked 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Enhanced s-cone syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Enhanced s-cone syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone monochromatism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone monochromatism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal cone dystrophy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal cone dystrophy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

CONE DYSTROPHY 5, X-LINKED Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the CONE DYSTROPHY 5, X-LINKED phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Retinal cone dystrophy 3B Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal cone dystrophy 3B phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy amelogenesis imperfecta Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy amelogenesis imperfecta phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cone-rod dystrophy 20 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cone-rod dystrophy 20 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

growth cone membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the growth cone membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

axonal growth cone Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the axonal growth cone cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

growth cone Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the growth cone cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dendritic growth cone Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dendritic growth cone cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cone cell pedicle Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cone cell pedicle cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

growth cone membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the growth cone membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

axonal growth cone Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the axonal growth cone cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

growth cone Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the growth cone cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dendritic growth cone Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dendritic growth cone cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

investment cone Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the investment cone cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cone cell pedicle Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cone cell pedicle cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Enhanced S-Cone Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Enhanced S-Cone Syndrome from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 1 from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 3A Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 3A from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 8 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 8 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 3 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 7 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 5 from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 3B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 3B from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 13 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 13 from the curated CTD Gene-Disease Associations dataset.

Cone Dystrophy 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone Dystrophy 3 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy, X-Linked, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 2 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy, X-Linked, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy, X-Linked, 3 from the curated CTD Gene-Disease Associations dataset.

Cone Dystrophy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone Dystrophy 4 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 9 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 9 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 2 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 1 from the curated CTD Gene-Disease Associations dataset.

Retinal cone dystrophy 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal cone dystrophy 2 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 12 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 11 from the curated CTD Gene-Disease Associations dataset.

Cone-Rod Dystrophy 10 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cone-Rod Dystrophy 10 from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY, X-LINKED, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY, X-LINKED, 1 from the curated CTD Gene-Disease Associations dataset.

Newfoundland Rod-Cone Dystrophy Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Newfoundland Rod-Cone Dystrophy from the curated CTD Gene-Disease Associations dataset.

CONE-ROD DYSTROPHY 15 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease CONE-ROD DYSTROPHY 15 from the curated CTD Gene-Disease Associations dataset.

Retinal Cone Dystrophy 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Retinal Cone Dystrophy 4 from the curated CTD Gene-Disease Associations dataset.

Blue cone monochromatism Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Blue cone monochromatism from the curated CTD Gene-Disease Associations dataset.

cone-rod dystrophy Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease cone-rod dystrophy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

cone-rod dystrophy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cone-rod dystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

blue cone monochromacy Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease blue cone monochromacy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

cone dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cone dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cone-rod dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cone degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cone degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cone-rod dystrophy; retinitis pigmentosa Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cone-rod dystrophy; retinitis pigmentosa in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

recessive cone-rod dystrophy Gene Set

From GAD Gene-Disease Associations

genes associated with the disease recessive cone-rod dystrophy in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cone Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cone in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

retinal cone cell development Gene Set

From GO Biological Process Annotations

genes participating in the retinal cone cell development biological process from the curated GO Biological Process Annotations dataset.

growth cone membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the growth cone membrane cellular component from the curated GO Cellular Component Annotations dataset.

axonal growth cone Gene Set

From GO Cellular Component Annotations

proteins localized to the axonal growth cone cellular component from the curated GO Cellular Component Annotations dataset.

growth cone Gene Set

From GO Cellular Component Annotations

proteins localized to the growth cone cellular component from the curated GO Cellular Component Annotations dataset.

dendritic growth cone Gene Set

From GO Cellular Component Annotations

proteins localized to the dendritic growth cone cellular component from the curated GO Cellular Component Annotations dataset.

cone cell pedicle Gene Set

From GO Cellular Component Annotations

proteins localized to the cone cell pedicle cellular component from the curated GO Cellular Component Annotations dataset.

abnormal rod and cone electroretinograms Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal rod and cone electroretinograms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

progressive cone degeneration Gene Set

From HPO Gene-Disease Associations

genes associated with the progressive cone degeneration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone-rod dystrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the cone-rod dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent rod-and cone-mediated responses on erg Gene Set

From HPO Gene-Disease Associations

genes associated with the absent rod-and cone-mediated responses on erg phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

blue cone monochromacy Gene Set

From HPO Gene-Disease Associations

genes associated with the blue cone monochromacy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal cone-mediated electroretinogram Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal cone-mediated electroretinogram phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cone monochromacy Gene Set

From HPO Gene-Disease Associations

genes associated with the cone monochromacy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Progressive rod-cone degeneration protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Progressive rod-cone degeneration protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ATP-cone Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ATP-cone protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal retinal cone cell inner segment morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal cone bipolar cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone bipolar cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent ectoplacental cone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent ectoplacental cone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased retinal cone cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased retinal cone cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal cone cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

small ectoplacental cone Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the small ectoplacental cone phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

retinal cone cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the retinal cone cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal ectoplacental cone morphology Gene Set

From MPO Gene-Phenotype Associations

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

absent retinal cone cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent retinal cone cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cone electrophysiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cone electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased retinal cone cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased retinal cone cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal cone cell outer segment morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

newfoundland rod-cone dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the newfoundland rod-cone dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cone dystrophy-3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone dystrophy-3 phenotype from the curated OMIM Gene-Disease Associations dataset.

enhanced s-cone syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the enhanced s-cone syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

microcornea, rod-cone dystrophy, cataract, and posterior staphyloma Gene Set

From OMIM Gene-Disease Associations

genes associated with the microcornea, rod-cone dystrophy, cataract, and posterior staphyloma phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 10 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 10 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy, x-linked, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy, x-linked, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod retinal dystrophy-2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod retinal dystrophy-2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod retinal dystrophy-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod retinal dystrophy-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 6, 60177 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 6, 60177 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaphyseal dysplasia with cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaphyseal dysplasia with cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

cone dystrophy 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone dystrophy 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

blue cone monochromacy Gene Set

From OMIM Gene-Disease Associations

genes associated with the blue cone monochromacy phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal cone dystrophy 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal cone dystrophy 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal cone dystrophy 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal cone dystrophy 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

macular dystrophy with central cone involvement Gene Set

From OMIM Gene-Disease Associations

genes associated with the macular dystrophy with central cone involvement phenotype from the curated OMIM Gene-Disease Associations dataset.

cone dystrophy, progressive x-linked, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone dystrophy, progressive x-linked, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystrophy 20 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystrophy 20 phenotype from the curated OMIM Gene-Disease Associations dataset.

cone-rod dystropy, x-linked, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cone-rod dystropy, x-linked, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

?cone-rod dystrophy Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?cone-rod dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset.

?retinal cone dystrophy-1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?retinal cone dystrophy-1 phenotype from the curated OMIM Gene-Disease Associations dataset.

retinal cone dystrophy 3b Gene Set

From OMIM Gene-Disease Associations

genes associated with the retinal cone dystrophy 3b phenotype from the curated OMIM Gene-Disease Associations dataset.

Sema4D induced cell migration and growth-cone collapse Gene Set

From Reactome Pathways

proteins participating in the Sema4D induced cell migration and growth-cone collapse pathway from the Reactome Pathways dataset.

EPHA-mediated growth cone collapse Gene Set

From Reactome Pathways

proteins participating in the EPHA-mediated growth cone collapse pathway from the Reactome Pathways dataset.

retinal cone Gene Set

From TISSUES Curated Tissue Protein Expression Evidence Scores

proteins highly expressed in the tissue retinal cone from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.

ectoplacental cone Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue ectoplacental cone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

male cone Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue male cone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

female cone Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue female cone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

retinal cone Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue retinal cone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cone Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cone in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

Split-hand/foot malformation 6 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 6 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Split-hand/foot malformation 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Split-hand/foot malformation 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Split-hand/foot malformation 1 with sensorineural hearing loss Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hand foot uterus syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hand foot uterus syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Spondylometaepiphyseal dysplasia short limb-hand type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Spondylometaepiphyseal dysplasia short limb-hand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Split hand foot deformity 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split hand foot deformity 1 from the curated CTD Gene-Disease Associations dataset.

Heart-hand syndrome, Slovenian type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heart-hand syndrome, Slovenian type from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation 6 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 6 from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 2 from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation With Long Bone Deficiency 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation With Long Bone Deficiency 3 from the curated CTD Gene-Disease Associations dataset.

Craniofacial deafness hand syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Craniofacial deafness hand syndrome from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 4 from the curated CTD Gene-Disease Associations dataset.

Split-Hand/Foot Malformation 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-Hand/Foot Malformation 5 from the curated CTD Gene-Disease Associations dataset.

Hand Dermatoses Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hand Dermatoses from the curated CTD Gene-Disease Associations dataset.

SPLIT-HAND/FOOT MALFORMATION 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPLIT-HAND/FOOT MALFORMATION 2 from the curated CTD Gene-Disease Associations dataset.

Hand Deformities, Congenital Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hand Deformities, Congenital from the curated CTD Gene-Disease Associations dataset.

Hand foot uterus syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hand foot uterus syndrome from the curated CTD Gene-Disease Associations dataset.

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type from the curated CTD Gene-Disease Associations dataset.

Split-hand/foot malformation with long bone deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Split-hand/foot malformation with long bone deficiency from the curated CTD Gene-Disease Associations dataset.

Hand Strength Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Hand Strength in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

cork-handlers' disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease cork-handlers' disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hand, foot and mouth disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hand, foot and mouth disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

hand dermatosis Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease hand dermatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

dermatitis, contact; hand dermatoses Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dermatitis, contact; hand dermatoses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dermatitis, atopic; eczema; eczema allergic; hand dermatoses Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dermatitis, atopic; eczema; eczema allergic; hand dermatoses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hand strength Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hand strength in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

left-handedness and visuospatial skills Gene Set

From GAD Gene-Disease Associations

genes associated with the disease left-handedness and visuospatial skills in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dermatitis, allergic contact; hand dermatoses Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dermatitis, allergic contact; hand dermatoses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hypertension; renal sodium handling Gene Set

From GAD Gene-Disease Associations

genes associated with the disease hypertension; renal sodium handling in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

heart-hand syndrome, holt-oram syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease heart-hand syndrome, holt-oram syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dermatitis, atopic; dermatitis, irritant; dermatitis, occupational; hand dermatoses Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dermatitis, atopic; dermatitis, irritant; dermatitis, occupational; hand dermatoses in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

hand2 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hand2 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handful Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handful in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handicap Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handicap in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handgrip Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handgrip in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handling Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handling in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handoff Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handoff in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

hand Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hand in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handedness Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handedness in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handinhand Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handinhand in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handoverhand Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handoverhand in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handle Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handle in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

hand1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hand1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

hands Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term hands in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handled Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handled in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handles Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handles in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handfoot Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handfoot in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

handlike Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term handlike in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

left-handed z-dna binding Gene Set

From GO Molecular Function Annotations

genes performing the left-handed z-dna binding molecular function from the curated GO Molecular Function Annotations dataset.

Relative hand skill in reading disability Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Relative hand skill in reading disability phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Handedness in dyslexia Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Handedness in dyslexia phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

hand, foot and mouth disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease hand, foot and mouth disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

abnormality of the hand Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of the hand phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

sclerosis of hand bone Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the sclerosis of hand bone phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormal ossification of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal ossification of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular sclerosis of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular sclerosis of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hypotrophy of the small hand muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the hypotrophy of the small hand muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia involving bones of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia involving bones of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

patchy sclerosis of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the patchy sclerosis of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia of the middle phalanx of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia of the middle phalanx of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

oligodactyly (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the oligodactyly (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

large hands Gene Set

From HPO Gene-Disease Associations

genes associated with the large hands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand tremor Gene Set

From HPO Gene-Disease Associations

genes associated with the hand tremor phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the distal phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the distal phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

valgus hand deformity Gene Set

From HPO Gene-Disease Associations

genes associated with the valgus hand deformity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

edema of the dorsum of hands Gene Set

From HPO Gene-Disease Associations

genes associated with the edema of the dorsum of hands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

radial deviation of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the radial deviation of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand clenching Gene Set

From HPO Gene-Disease Associations

genes associated with the hand clenching phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

cold-induced hand cramps Gene Set

From HPO Gene-Disease Associations

genes associated with the cold-induced hand cramps phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand muscle atrophy Gene Set

From HPO Gene-Disease Associations

genes associated with the hand muscle atrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of hand joint mobility Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of hand joint mobility phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

monodactyly (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the monodactyly (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

complete duplication of phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the complete duplication of phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent hand Gene Set

From HPO Gene-Disease Associations

genes associated with the absent hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

ulnar deviation of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the ulnar deviation of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

irregular ossification of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the irregular ossification of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

pseudoepiphyses of hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the pseudoepiphyses of hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

neonatal wrinkled skin of hands and feet Gene Set

From HPO Gene-Disease Associations

genes associated with the neonatal wrinkled skin of hands and feet phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

weakness of the intrinsic hand muscles Gene Set

From HPO Gene-Disease Associations

genes associated with the weakness of the intrinsic hand muscles phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hyperextensible hand joints Gene Set

From HPO Gene-Disease Associations

genes associated with the hyperextensible hand joints phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

joint contracture of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the joint contracture of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

synostosis involving bones of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the synostosis involving bones of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

mesoaxial hand polydactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the mesoaxial hand polydactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal hand morphology Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal hand morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

poor hand-eye coordination Gene Set

From HPO Gene-Disease Associations

genes associated with the poor hand-eye coordination phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

duplication of the middle phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the duplication of the middle phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

small hand Gene Set

From HPO Gene-Disease Associations

genes associated with the small hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aphalangy of the hands Gene Set

From HPO Gene-Disease Associations

genes associated with the aphalangy of the hands phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

osteolytic defects of the hand bones Gene Set

From HPO Gene-Disease Associations

genes associated with the osteolytic defects of the hand bones phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

trident hand Gene Set

From HPO Gene-Disease Associations

genes associated with the trident hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand polydactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the hand polydactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

sclerosis of hand bone Gene Set

From HPO Gene-Disease Associations

genes associated with the sclerosis of hand bone phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormal hand bone ossification Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormal hand bone ossification phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

preaxial hand polydactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the preaxial hand polydactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of phalangeal joints of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of phalangeal joints of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

partial duplication of the phalanx of hand Gene Set

From HPO Gene-Disease Associations

genes associated with the partial duplication of the phalanx of hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

radial club hand Gene Set

From HPO Gene-Disease Associations

genes associated with the radial club hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

short tubular bones (hand) Gene Set

From HPO Gene-Disease Associations

genes associated with the short tubular bones (hand) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

handgrip myotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the handgrip myotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

split hand Gene Set

From HPO Gene-Disease Associations

genes associated with the split hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

distal symphalangism (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the distal symphalangism (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

postaxial hand polydactyly Gene Set

From HPO Gene-Disease Associations

genes associated with the postaxial hand polydactyly phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

proximal symphalangism (hands) Gene Set

From HPO Gene-Disease Associations

genes associated with the proximal symphalangism (hands) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the musculature of the hand Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the musculature of the hand phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

hand muscle weakness Gene Set

From HPO Gene-Disease Associations

genes associated with the hand muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Hand, Foot and Mouth Disease Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hand, Foot and Mouth Disease phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Hand Deformities, Congenital Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Hand Deformities, Congenital phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

IQ motif, EF-hand binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the IQ motif, EF-hand binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand, Ca insensitive Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand, Ca insensitive protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ISWI, HAND domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ISWI, HAND domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF hand associated, type-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF hand associated, type-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF hand associated, type-1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF hand associated, type-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand domain pair Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand domain pair protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-Hand 1, calcium-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-Hand 1, calcium-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphoinositol-specific, EF-hand-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphoinositol-specific, EF-hand-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adaptor protein Cbl, EF hand-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adaptor protein Cbl, EF hand-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine/threonine-protein phosphatase with EF-hands Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine/threonine-protein phosphatase with EF-hands protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand calcium-binding domain-containing protein 6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand calcium-binding domain-containing protein 6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand domain, type 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand domain, type 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

EF-hand domain, type 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the EF-hand domain, type 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Hand1:E47 Gene Set

From MotifMap Predicted Transcription Factor Targets

target genes of the Hand1:E47 transcription factor predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.

hand-foot-uterus syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the hand-foot-uterus syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

split hand/foot malformation 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split hand/foot malformation 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

split hand/foot malformation 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split hand/foot malformation 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

spondylometaepiphyseal dysplasia, short limb-hand type Gene Set

From OMIM Gene-Disease Associations

genes associated with the spondylometaepiphyseal dysplasia, short limb-hand type phenotype from the curated OMIM Gene-Disease Associations dataset.

?split-hand/foot malformation 1 with sensorineural hearing loss Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?split-hand/foot malformation 1 with sensorineural hearing loss phenotype from the curated OMIM Gene-Disease Associations dataset.

heart-hand syndrome, slovenian type Gene Set

From OMIM Gene-Disease Associations

genes associated with the heart-hand syndrome, slovenian type phenotype from the curated OMIM Gene-Disease Associations dataset.

[handedness] Gene Set

From OMIM Gene-Disease Associations

genes associated with the [handedness] phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation 3, gene duplication syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 3, gene duplication syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

craniofacial-deafness-hand syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the craniofacial-deafness-hand syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation with long bone deficiency 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation with long bone deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation with long bone deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation with long bone deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

dyssegmental dysplasia, silverman-handmaker type Gene Set

From OMIM Gene-Disease Associations

genes associated with the dyssegmental dysplasia, silverman-handmaker type phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation 6 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 6 phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

split-hand/foot malformation 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the split-hand/foot malformation 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epidermolysis bullosa of hands and feet Gene Set

From OMIM Gene-Disease Associations

genes associated with the epidermolysis bullosa of hands and feet phenotype from the curated OMIM Gene-Disease Associations dataset.

HAND1 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for HAND1 from the Pathway Commons Protein-Protein Interactions dataset.

HAND2 Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for HAND2 from the Pathway Commons Protein-Protein Interactions dataset.

hand Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue hand in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

HAND1 Gene Set

From TRANSFAC Curated Transcription Factor Targets

target genes of the HAND1 transcription factor in low- or high-throughput transcription factor functional studies from the TRANSFAC Curated Transcription Factor Targets dataset.