Name

BFIS1 Gene

benign familial infantile convulsions

NYS5 Gene

Nystagmus 5, infantile periodic alternating

CLN6 Gene

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

BFIS4 Gene

Convulsions, benign familial infantile, 4

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

BFIC2 Gene

Benign familial infantile convulsions-2

EIM Gene

Infantile myoclonic epilepsy

GLC3B Gene

glaucoma 3, primary infantile, B

IHPS2 Gene

Pyloric stenosis, infantile hypertrophic, 2

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

IHPS5 Gene

Pyloric stenosis, infantile hypertrophic, 5

IHPS4 Gene

Pyloric stenosis, infantile hypertrophic, 4

IHPS3 Gene

Pyloric stenosis, infantile hypertrophic, 3

PCDHACT Gene

protocadherin alpha constant

The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large `variable` region exon, while the intracellular domains are encoded by three small `constant` region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin alpha gene cluster. [provided by RefSeq, Jul 2008]

TRBC1 Gene

T cell receptor beta constant 1

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Predicted to be located in membrane. Predicted to be part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

TRBC2 Gene

T cell receptor beta constant 2

Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and alpha-beta T cell activation. Part of alpha-beta T cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHEP2 Gene

immunoglobulin heavy constant epsilon P2 (pseudogene)

IGHEP1 Gene

immunoglobulin heavy constant epsilon P1 (pseudogene)

IGHG4 Gene

immunoglobulin heavy constant gamma 4 (G4m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGHG1 Gene

immunoglobulin heavy constant gamma 1 (G1m marker)

Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in extracellular space. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHG2 Gene

immunoglobulin heavy constant gamma 2 (G2m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

IGHG3 Gene

immunoglobulin heavy constant gamma 3 (G3m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGHGP Gene

immunoglobulin heavy constant gamma P (non-functional)

IGLCOR22-1 Gene

immunoglobulin lambda constant/OR22-1 (pseudogene)

IGLCOR22-2 Gene

immunoglobulin lambda constant/OR22-2 (pseudogene)

IGKC Gene

immunoglobulin kappa constant

Predicted to enable antigen binding activity. Involved in adaptive immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGLJCOR18 Gene

immunoglobulin lambda joining-constant/OR18 (pseudogene)

TRGC1 Gene

T cell receptor gamma constant 1

Enables small molecule binding activity. Predicted to be involved in T cell receptor signaling pathway; adaptive immune response; and gamma-delta T cell activation. Predicted to act upstream of or within homeostasis of number of cells within a tissue. Predicted to be located in membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

TRGC2 Gene

T cell receptor gamma constant 2

Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in T cell receptor signaling pathway and adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of gamma-delta T cell receptor complex. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

IGHD Gene

immunoglobulin heavy constant delta

Predicted to enable antigen binding activity. Involved in positive regulation of interleukin-1 production. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGHE Gene

immunoglobulin heavy constant epsilon

Enables immunoglobulin receptor binding activity. Involved in several processes, including B cell mediated immunity; Fc receptor-mediated immune complex endocytosis; and leukocyte degranulation. Located in extracellular space and plasma membrane. Part of IgE B cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHA2 Gene

immunoglobulin heavy constant alpha 2 (A2m marker)

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHA1 Gene

immunoglobulin heavy constant alpha 1

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGLC4 Gene

immunoglobulin lambda constant 4 (pseudogene)

IGLC5 Gene

immunoglobulin lambda constant 5 (pseudogene)

IGLC6 Gene

immunoglobulin lambda constant 6 (Kern+Oz- marker, gene/pseudogene)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

IGLC7 Gene

immunoglobulin lambda constant 7

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGLC1 Gene

immunoglobulin lambda constant 1 (Mcg marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGLC2 Gene

immunoglobulin lambda constant 2 (Kern-Oz- marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

IGLC3 Gene

immunoglobulin lambda constant 3 (Kern-Oz+ marker)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

IGHM Gene

immunoglobulin heavy constant mu

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

TRDC Gene

T cell receptor delta constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

TRAC Gene

T cell receptor alpha constant

T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]

PCDHGCT Gene

protocadherin gamma constant

The genomic organization of the human protocadherin alpha, beta, and gamma gene clusters (PCDHA@, PCDHB@ and PCDHG@) is remarkably similar to that of immunoglobulin and T-cell receptor genes. The extracellular and transmembrane domains of each protocadherin protein are encoded by an unusually large `variable` region exon, while the intracellular domains are encoded by three small `constant` region exons located downstream from a tandem array of variable region exons. This locus represents the three exons comprising the constant region of the protocadherin gamma gene cluster. [provided by RefSeq, Jul 2008]

Infantile Constant Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Constant Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Constant Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

constant Gene Set

From GeneRIF Biological Term Annotations

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

Hemoglobin H Constant Spring Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemoglobin H Constant Spring in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Constant exophthalmos Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Constant exophthalmos in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Hemoglobin constant spring Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Hemoglobin constant spring phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

exotropia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

alternating exotropia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

exotropia Gene Set

From GeneRIF Biological Term Annotations

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

exotropia Gene Set

From HPO Gene-Disease Associations

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

Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Consecutive Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Consecutive Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sensory Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sensory Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Alternating Exotropia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Alternating Exotropia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Exotropia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Exotropia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Alternating exotropia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Alternating exotropia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Monocular exotropia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Monocular exotropia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Concomitant exotropia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Concomitant exotropia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign familial neonatal-infantile seizures Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Benign familial neonatal-infantile seizures phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile convulsions and paroxysmal choreoathetosis, familial Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile convulsions and paroxysmal choreoathetosis, familial phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoinflammation with infantile enterocolitis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoinflammation with infantile enterocolitis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Cerebellar ataxia infantile with progressive external ophthalmoplegia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Cerebellar ataxia infantile with progressive external ophthalmoplegia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 9 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 9 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 8 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 8 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 7 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 7 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 4 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 4 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Carnitine palmitoyltransferase II deficiency, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Carnitine palmitoyltransferase II deficiency, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 23 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 23 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Glycogen storage disease type II, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glycogen storage disease type II, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

X-linked infantile nystagmus Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the X-linked infantile nystagmus phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile myofibromatosis 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile myofibromatosis 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Amish infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Amish infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 18 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 18 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 13 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 13 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 10 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 10 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 17 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 17 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 16 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 16 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 14 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 14 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 1 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile liver failure syndrome 2 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile liver failure syndrome 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Galactosialidosis, early infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Galactosialidosis, early infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyloric stenosis, infantile hypertrophic, 5 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sandhoff disease, infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sandhoff disease, infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Metachromatic leukodystrophy, late infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Metachromatic leukodystrophy, late infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile neuroaxonal neurodegeneration with facial dysmorphism Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile neuroaxonal neurodegeneration with facial dysmorphism phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Polycystic kidney disease, infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Polycystic kidney disease, infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Early infantile epileptic encephalopathy 11 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Early infantile epileptic encephalopathy 11 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Liver failure acute infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Liver failure acute infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 28 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 28 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 24 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 24 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 25 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 25 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 26 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 26 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 27 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 27 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 21 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 21 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile Parkinsonism-dystonia Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile Parkinsonism-dystonia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sting-associated vasculopathy, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sting-associated vasculopathy, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Sialic acid storage disease, severe infantile type Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Sialic acid storage disease, severe infantile type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Autoimmune disease, multisystem, infantile-onset Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Autoimmune disease, multisystem, infantile-onset phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Epileptic encephalopathy, early infantile, 19 Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Epileptic encephalopathy, early infantile, 19 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Myoclonic epilepsy, familial infantile Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Myoclonic epilepsy, familial infantile phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Parkinsonism-Dystonia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Parkinsonism-Dystonia, Infantile from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 2 from the curated CTD Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Myasthenia, Familial Infantile, 1 from the curated CTD Gene-Disease Associations dataset.

Hereditary spastic paralysis, infantile onset ascending Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hereditary spastic paralysis, infantile onset ascending from the curated CTD Gene-Disease Associations dataset.

Ceroid lipofuscinosis, neuronal 1, infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Ceroid lipofuscinosis, neuronal 1, infantile from the curated CTD Gene-Disease Associations dataset.

Infantile polyarteritis Gene Set

From CTD Gene-Disease Associations

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

LIVER FAILURE, INFANTILE, TRANSIENT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease LIVER FAILURE, INFANTILE, TRANSIENT from the curated CTD Gene-Disease Associations dataset.

Refsum Disease, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Refsum Disease, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 from the curated CTD Gene-Disease Associations dataset.

Glaucoma 3, primary infantile, B Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glaucoma 3, primary infantile, B from the curated CTD Gene-Disease Associations dataset.

SEIZURES, BENIGN FAMILIAL INFANTILE, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SEIZURES, BENIGN FAMILIAL INFANTILE, 2 from the curated CTD Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Amish Infantile Epilepsy Syndrome from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 2 from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 from the curated CTD Gene-Disease Associations dataset.

Hemangioma, capillary infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hemangioma, capillary infantile from the curated CTD Gene-Disease Associations dataset.

Striatonigral degeneration infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Striatonigral degeneration infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 5 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 5 from the curated CTD Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Spasms, Infantile from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 from the curated CTD Gene-Disease Associations dataset.

Convulsions, Benign Familial Infantile, 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Convulsions, Benign Familial Infantile, 4 from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic 1 from the curated CTD Gene-Disease Associations dataset.

Epileptic Encephalopathy, Early Infantile, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Epileptic Encephalopathy, Early Infantile, 3 from the curated CTD Gene-Disease Associations dataset.

Carnitine Palmitoyltransferase II Deficiency, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Carnitine Palmitoyltransferase II Deficiency, Infantile from the curated CTD Gene-Disease Associations dataset.

Pyloric Stenosis, Infantile Hypertrophic, 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Pyloric Stenosis, Infantile Hypertrophic, 3 from the curated CTD Gene-Disease Associations dataset.

Polycystic kidneys, severe infantile with tuberous sclerosis Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Polycystic kidneys, severe infantile with tuberous sclerosis from the curated CTD Gene-Disease Associations dataset.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 from the curated CTD Gene-Disease Associations dataset.

Hypophosphatasia, Infantile Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Hypophosphatasia, Infantile from the curated CTD Gene-Disease Associations dataset.

MYOCLONIC EPILEPSY, FAMILIAL INFANTILE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MYOCLONIC EPILEPSY, FAMILIAL INFANTILE from the curated CTD Gene-Disease Associations dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease infantile onset spinocerebellar ataxia from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

infantile onset spinocerebellar ataxia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease infantile onset spinocerebellar ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

benign familial infantile epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

infantile refsum disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

fatal infantile encephalocardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

seborrheic infantile dermatitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores

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

neurofibromatosis 1; spasms, infantile Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neurofibromatosis 1; spasms, infantile in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypophosphatasia Gene Set

From GAD Gene-Disease Associations

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

infantile hypertrophic pyloric stenosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

familial hemiplegic migraine and benign familial infantile convulsions Gene Set

From GAD Gene-Disease Associations

genes associated with the disease familial hemiplegic migraine and benign familial infantile convulsions in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

variant late infantile neuronal ceroid lipofuscinosis. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease variant late infantile neuronal ceroid lipofuscinosis. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile-onset ascending hereditary spastic paralysis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile-onset ascending hereditary spastic paralysis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

infantile hypertrophic pyloric stenosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease infantile hypertrophic pyloric stenosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

diarrhea, infantile Gene Set

From GAD Gene-Disease Associations

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

spasms, infantile Gene Set

From GAD Gene-Disease Associations

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

infantile Gene Set

From GeneRIF Biological Term Annotations

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

Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 Gene Set

From GEO Signatures of Differentially Expressed Genes for Diseases

genes differentially expressed during Infantile neuronal ceroid lipofuscinosis_Brain_GSE6678 disease perturbation from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

calcific stippling of infantile cartilaginous skeleton Gene Set

From HPO Gene-Disease Associations

genes associated with the calcific stippling of infantile cartilaginous skeleton phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile onset Gene Set

From HPO Gene-Disease Associations

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

infantile hypercalcemia Gene Set

From HPO Gene-Disease Associations

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

infantile muscular hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile muscular hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile sensorineural hearing impairment Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile sensorineural hearing impairment phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

infantile encephalopathy Gene Set

From HPO Gene-Disease Associations

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

infantile spasms Gene Set

From HPO Gene-Disease Associations

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

infantile axial hypotonia Gene Set

From HPO Gene-Disease Associations

genes associated with the infantile axial hypotonia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Spasms, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

Infantile Apparent Life-Threatening Event Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Infantile Apparent Life-Threatening Event phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Diarrhea, Infantile Gene Set

From HuGE Navigator Gene-Phenotype Associations

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

pyloric stenosis, infantile hypertrophic, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

pyloric stenosis, infantile hypertrophic, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyloric stenosis, infantile hypertrophic, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 24 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 24 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 25 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 25 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 26 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 26 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 27 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 27 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 23 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 23 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 5 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 5 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 7 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 7 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 9 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 9 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 8 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 8 phenotype from the curated OMIM Gene-Disease Associations dataset.

spinal muscular atrophy, x-linked 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the spinal muscular atrophy, x-linked 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 4 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 4 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

seizures, benign familial infantile, 3 Gene Set

From OMIM Gene-Disease Associations

genes associated with the seizures, benign familial infantile, 3 phenotype from the curated OMIM Gene-Disease Associations dataset.

amish infantile epilepsy syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the amish infantile epilepsy syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

hypertriglyceridemia, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypertriglyceridemia, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

liver failure, transient infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the liver failure, transient infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

?myofibromatosis, infantile 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?myofibromatosis, infantile 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

hypercalcemia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypercalcemia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

nephronophthisis 2, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the nephronophthisis 2, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myofibromatosis, infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myofibromatosis, infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

neuroaxonal neurodegeneration, infantile, with facial dysmophism Gene Set

From OMIM Gene-Disease Associations

genes associated with the neuroaxonal neurodegeneration, infantile, with facial dysmophism phenotype from the curated OMIM Gene-Disease Associations dataset.

parkinsonism-dystonia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the parkinsonism-dystonia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

sting-associated vasculopathy, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the sting-associated vasculopathy, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

?infantile liver failure syndrome 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?infantile liver failure syndrome 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 14 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 14 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 17 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 17 phenotype from the curated OMIM Gene-Disease Associations dataset.

myasthenia, familial infantile, 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the myasthenia, familial infantile, 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 15 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 15 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 16 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 16 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 11 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 11 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 13 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 13 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 12 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 12 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 19 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 19 phenotype from the curated OMIM Gene-Disease Associations dataset.

epileptic encephalopathy, early infantile, 18 Gene Set

From OMIM Gene-Disease Associations

genes associated with the epileptic encephalopathy, early infantile, 18 phenotype from the curated OMIM Gene-Disease Associations dataset.

{hemangioma, capillary infantile, susceptibility to} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {hemangioma, capillary infantile, susceptibility to} phenotype from the curated OMIM Gene-Disease Associations dataset.

nystagmus, infantile periodic alternating, x-linked Gene Set

From OMIM Gene-Disease Associations

genes associated with the nystagmus, infantile periodic alternating, x-linked phenotype from the curated OMIM Gene-Disease Associations dataset.

hemangioma, capillary infantile, somatic Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemangioma, capillary infantile, somatic phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile neuroaxonal dystrophy 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile neuroaxonal dystrophy 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

myoclonic epilepsy, infantile, familial Gene Set

From OMIM Gene-Disease Associations

genes associated with the myoclonic epilepsy, infantile, familial phenotype from the curated OMIM Gene-Disease Associations dataset.

?epileptic encephalopathy, early infantile, 21 Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?epileptic encephalopathy, early infantile, 21 phenotype from the curated OMIM Gene-Disease Associations dataset.

polycystic kidney disease, infantile severe, with tuberous sclerosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the polycystic kidney disease, infantile severe, with tuberous sclerosis phenotype from the curated OMIM Gene-Disease Associations dataset.

hypophosphatasia, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the hypophosphatasia, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related Gene Set

From OMIM Gene-Disease Associations

genes associated with the myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 phenotype from the curated OMIM Gene-Disease Associations dataset.

cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Gene Set

From OMIM Gene-Disease Associations

genes associated with the cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 phenotype from the curated OMIM Gene-Disease Associations dataset.

juvenile polyposis syndrome, infantile form Gene Set

From OMIM Gene-Disease Associations

genes associated with the juvenile polyposis syndrome, infantile form phenotype from the curated OMIM Gene-Disease Associations dataset.

infantile cerebellar-retinal degeneration Gene Set

From OMIM Gene-Disease Associations

genes associated with the infantile cerebellar-retinal degeneration phenotype from the curated OMIM Gene-Disease Associations dataset.

sandhoff disease, infantile, juvenile, and adult forms Gene Set

From OMIM Gene-Disease Associations

genes associated with the sandhoff disease, infantile, juvenile, and adult forms phenotype from the curated OMIM Gene-Disease Associations dataset.

sialic acid storage disorder, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the sialic acid storage disorder, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

autoinflammation with infantile enterocolitis Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoinflammation with infantile enterocolitis phenotype from the curated OMIM Gene-Disease Associations dataset.

autoimmune disease, multisystem, infantile-onset Gene Set

From OMIM Gene-Disease Associations

genes associated with the autoimmune disease, multisystem, infantile-onset phenotype from the curated OMIM Gene-Disease Associations dataset.

convulsions, familial infantile, with paroxysmal choreoathetosis Gene Set

From OMIM Gene-Disease Associations

genes associated with the convulsions, familial infantile, with paroxysmal choreoathetosis phenotype from the curated OMIM Gene-Disease Associations dataset.

striatonigral degeneration, infantile Gene Set

From OMIM Gene-Disease Associations

genes associated with the striatonigral degeneration, infantile phenotype from the curated OMIM Gene-Disease Associations dataset.

glaucoma 3, primary infantile, b Gene Set

From OMIM Gene-Disease Associations

genes associated with the glaucoma 3, primary infantile, b phenotype from the curated OMIM Gene-Disease Associations dataset.

spastic paralysis, infantile onset ascending Gene Set

From OMIM Gene-Disease Associations

genes associated with the spastic paralysis, infantile onset ascending phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Gene Set

From Reactome Pathways 2014

proteins participating in the Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) pathway from the Reactome Pathways dataset.

Infantile Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Spasm Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Spasm in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Nystagmus Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Nystagmus Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Myofibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Myofibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late-Infantile Neuronal Ceroid Lipfuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late-Infantile Neuronal Ceroid Lipfuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hemangioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hemangioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Severe Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Severe Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cerebellar-Retinal Degeneration Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cerebellar-Retinal Degeneration in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Acute Infantile Spinal Muscular Atrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Acute Infantile Spinal Muscular Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Scurvy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Scurvy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Autoimmune Disease, Multisystem, Infantile-Onset, 2 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Autoimmune Disease, Multisystem, Infantile-Onset, 2 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Chronic Infantile Neurological, Cutaneous, And Articular Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy With Suppression Bursts Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy With Suppression Bursts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Hypophosphatasia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Hypophosphatasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hereditary Spastic Paralysis, Infantile Onset Ascending Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hereditary Spastic Paralysis, Infantile Onset Ascending in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Uterus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Uterus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Hemangioma, Capillary Infantile Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Hemangioma, Capillary Infantile in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cryptogenic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cryptogenic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Refractory Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Refractory Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Neuronal Ceroid Lipofuscinosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Neuronal Ceroid Lipofuscinosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Striatonigral Degeneration, Infantile, Mitochondrial Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Striatonigral Degeneration, Infantile, Mitochondrial in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Malignant Osteopetrosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Malignant Osteopetrosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Endemic Tyrolean Infantile Cirrhosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Endemic Tyrolean Infantile Cirrhosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Amish Infantile Epilepsy Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Amish Infantile Epilepsy Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibrosarcoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibrosarcoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Necrotizing Encephalopathy, Infantile Subacute, Of Leigh in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Astrocytoma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

X-Linked Infantile Nystagmus Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease X-Linked Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Refsum Disease (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Refsum Disease (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Familial Infantile Myasthenia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Familial Infantile Myasthenia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Onset Spinocerebellar Ataxia Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Onset Spinocerebellar Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Myasthenia, Familial Infantile, 1 Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Myasthenia, Familial Infantile, 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symptomatic Infantile Spasms Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Symptomatic Infantile Spasms in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Cataract Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Cataract in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Cystinosis, Infantile Nephropathic Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Cystinosis, Infantile Nephropathic in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Idiopathic Infantile Hypercalcemia - Mild Form Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Idiopathic Infantile Hypercalcemia - Mild Form in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fastkd2-Related Infantile Mitochondrial Encephalomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Atopic Dermatitis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Atopic Dermatitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Globoid Cell Leukodystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Globoid Cell Leukodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Sandhoff Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Sandhoff Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Sting-Associated Vasculopathy, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Sting-Associated Vasculopathy, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Digital Fibromatosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Digital Fibromatosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Liver Failure Syndrome Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Liver Failure Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Late Infantile Neuroaxonal Dystrophy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Late Infantile Neuroaxonal Dystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gm 2 Gangliosidosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gm 2 Gangliosidosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Polycystic Kidneys, Severe Infantile With Tuberous Sclerosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Benign Infantile Myoclonic Epilepsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Benign Infantile Myoclonic Epilepsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Diplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Diplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Apnea Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Apnea in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Monoplegic Infantile Cerebral Palsy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Monoplegic Infantile Cerebral Palsy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Convulsions And Paroxysmal Choreoathetosis, Familial (Disorder) in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Gastroenteritis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Gastroenteritis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Paralysis Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Paralysis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Early Infantile Epileptic Encephalopathy, Refractory Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Early Infantile Epileptic Encephalopathy, Refractory in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Fatal Infantile Mitochondrial Cardiomyopathy Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Fatal Infantile Mitochondrial Cardiomyopathy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Free Sialic Acid Storage Disease Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Free Sialic Acid Storage Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Asthma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile Asthma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Desmoplastic Infantile Astrocytoma And Ganglioglioma Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Desmoplastic Infantile Astrocytoma And Ganglioglioma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Liver Failure, Infantile, Transient Gene Set

From DisGeNET Gene-Disease Associations

genes associated with the disease Liver Failure, Infantile, Transient in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Infantile Muscular Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Muscular Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Diarrhea Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Diarrhea in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Nystagmus Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Nystagmus in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Obesity Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Obesity in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Axial Hypotonia Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Axial Hypotonia in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Hemangioma, Capillary Infantile, Somatic Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Hemangioma, Capillary Infantile, Somatic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Colic Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Colic in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Infantile Sensorineural Hearing Impairment Gene Set

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Infantile Sensorineural Hearing Impairment in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5619081 pathway from the Reactome Pathways 2024 dataset.

Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 Gene Set

From Reactome Pathways 2024

proteins participating in the Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)_5660724 pathway from the Reactome Pathways 2024 dataset.

COX deficiency, infantile mitochondrial myopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease COX deficiency, infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypertrophic cardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypertrophic cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Early infantile epileptic encephalopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Early infantile epileptic encephalopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile liver failure syndrome Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile liver failure syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Fatal infantile hypertonic myofibrillar myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile Refsum disease Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile Refsum disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile epilepsy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile epilepsy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile parkinsonism-dystonia 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile parkinsonism-dystonia 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypophosphatasia Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypophosphatasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Seborrheic infantile dermatitis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Seborrheic infantile dermatitis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

COX deficiency, benign infantile mitochondrial myopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease COX deficiency, benign infantile mitochondrial myopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile cerebellar-retinal degeneration Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile cerebellar-retinal degeneration in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile myofibromatosis Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile myofibromatosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 2 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 2 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Transient infantile liver failure Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Transient infantile liver failure in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Benign familial infantile seizures 5 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Benign familial infantile seizures 5 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile hypotonia with psychomotor retardation and characteristic facies-3 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile hypotonia with psychomotor retardation and characteristic facies-3 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile histiocytoid cardiomyopathy Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile histiocytoid cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile liver failure syndrome 1 Gene Set

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Infantile liver failure syndrome 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Infantile GM1 gangliosidosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile GM1 gangliosidosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Late-infantile neuronal ceroid lipofuscinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Late-infantile neuronal ceroid lipofuscinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myasthenia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myasthenia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Chronic infantile neurological Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Chronic infantile neurological phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset ascending hereditary spastic paralysis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset ascending hereditary spastic paralysis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile onset spinocerebellar ataxia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile onset spinocerebellar ataxia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile neuroaxonal dystrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile neuroaxonal dystrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Neonatal/infantile epilepsy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neonatal/infantile epilepsy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephronophthisis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephronophthisis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Capillary infantile hemangioma Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Capillary infantile hemangioma phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Benign sporadic infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Benign sporadic infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypophosphatasia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypophosphatasia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

LAMB2-related infantile-onset nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the LAMB2-related infantile-onset nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cortical hyperostosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cortical hyperostosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cerebral and cerebellar atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebral and cerebellar atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile nephropathic cystinosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile nephropathic cystinosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile spasms Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile spasms phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile convulsions and choreoathetosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile convulsions and choreoathetosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal infantile hypertonic myofibrillar myopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal infantile hypertonic myofibrillar myopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile myofibromatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile myofibromatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile Nephrotic syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile Nephrotic syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Self-limited familial infantile epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Self-limited familial infantile epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile cerebellar-retinal degeneration Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile cerebellar-retinal degeneration phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Early Infantile Epileptic Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Early Infantile Epileptic Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile myoclonic epilepsy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile myoclonic epilepsy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Fatal Infantile Cardioencephalomyopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Fatal Infantile Cardioencephalomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Periodic fever-infantile enterocolitis-autoinflammatory syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Periodic fever-infantile enterocolitis-autoinflammatory syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile osteopetrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile osteopetrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Syndromic Infantile Encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Syndromic Infantile Encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset X-linked spinal muscular atrophy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset X-linked spinal muscular atrophy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

IL21-related infantile inflammatory bowel disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the IL21-related infantile inflammatory bowel disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile epileptic dyskinetic encephalopathy Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile epileptic dyskinetic encephalopathy phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile or childhood onset neurodegenerative disease Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile or childhood onset neurodegenerative disease phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile liver failure Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile liver failure phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile-onset generalized dyskinesia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Infantile-onset generalized dyskinesia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Autosomal recessive infantile hypercalcemia Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Autosomal recessive infantile hypercalcemia phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Transient infantile hypertriglyceridemia and hepatosteatosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Transient infantile hypertriglyceridemia and hepatosteatosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Episodic kinesigenic dyskinesia and familial infantile convulsions Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Episodic kinesigenic dyskinesia and familial infantile convulsions phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Familial infantile bilateral striatal necrosis Gene Set

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Familial infantile bilateral striatal necrosis phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

Infantile hypertrophic pyloric stenosis Gene Set

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Infantile hypertrophic pyloric stenosis phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.