Trait
Feeding difficulties in infancy
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Summary
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Feeding difficulties in infancy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ASXL2ASXL transcriptional regulator 2 | Always | In 1 condition |
| CCDC32coiled-coil domain containing 32 | Always | In 1 condition |
| CNOT2CCR4-NOT transcription complex subunit 2 | Always | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Always | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Always | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 3 conditions |
| EP300EP300 lysine acetyltransferase | Always | In 2 conditions |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 2 conditions |
| FKRPfukutin related protein | Always | In 1 condition |
| FKTNfukutin | Always | In 1 condition |
| FOXP1forkhead box P1 | Always | In 1 condition |
| GOT2glutamic-oxaloacetic transaminase 2 | Always | In 1 condition |
| GSX2GS homeobox 2 | Always | In 1 condition |
| HLCSholocarboxylase synthetase | Always | In 1 condition |
| HMGA2high mobility group AT-hook 2 | Always | In 2 conditions |
| HSPD1heat shock protein family D (Hsp60) member 1 | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 1 condition |
| KCNK9potassium two pore domain channel subfamily K member 9 | Always | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| MRASmuscle RAS oncogene homolog | Always | In 2 conditions |
| MRPS16mitochondrial ribosomal protein S16 | Always | In 1 condition |
| NAPBNSF attachment protein beta | Always | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Always | In 1 condition |
| NLRC4NLR family CARD domain containing 4 | Always | In 1 condition |
| ODC1ornithine decarboxylase 1 | Always | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| ORC1origin recognition complex subunit 1 | Always | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PLAG1PLAG1 zinc finger | Always | In 2 conditions |
| POLR3KRNA polymerase III subunit K | Always | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Always | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Always | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 2 conditions |
| RAPSNreceptor associated protein of the synapse | Always | In 1 condition |
| RNF2ring finger protein 2 | Always | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Always | In 1 condition |
Show 398 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SCYL2SCY1 like pseudokinase 2 | Always | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Always | In 2 conditions |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Always | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Always | In 1 condition |
| SONSON DNA and RNA binding protein | Always | In 2 conditions |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TIMM22translocase of inner mitochondrial membrane 22 | Always | In 1 condition |
| TRMUtRNA mitochondrial 2-thiouridylase | Always | In 1 condition |
| TSPYL1TSPY like 1 | Always | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Always | In 1 condition |
| UNC45Bunc-45 myosin chaperone B | Always | In 1 condition |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Always | In 1 condition |
| ACTL6Bactin like 6B | Very often (80–99%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Very often (80–99%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 5 conditions |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Very often (80–99%) | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Very often (80–99%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Very often (80–99%) | In 1 condition |
| DLEC1DLEC1 cilia and flagella associated protein | Very often (80–99%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Very often (80–99%) | In 2 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Very often (80–99%) | In 1 condition |
| ELP1elongator acetyltransferase complex subunit 1 | Very often (80–99%) | In 2 conditions |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Very often (80–99%) | In 1 condition |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Very often (80–99%) | In 1 condition |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Very often (80–99%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Very often (80–99%) | In 2 conditions |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 2 conditions |
| FAT4FAT atypical cadherin 4 | Very often (80–99%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Very often (80–99%) | In 1 condition |
| GAAalpha glucosidase | Very often (80–99%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| IGF2insulin like growth factor 2 | Very often (80–99%) | In 2 conditions |
| ISCA1iron-sulfur cluster assembly 1 | Very often (80–99%) | In 1 condition |
| KDM6Alysine demethylase 6A | Very often (80–99%) | In 2 conditions |
| KMT2Dlysine methyltransferase 2D | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 3 conditions |
| LIFRLIF receptor subunit alpha | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 5 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Very often (80–99%) | In 3 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 2 conditions |
| MEG3maternally expressed 3 | Very often (80–99%) | In 2 conditions |
| MKRN3makorin ring finger protein 3 | Very often (80–99%) | In 1 condition |
| MYH3myosin heavy chain 3 | Very often (80–99%) | In 2 conditions |
| NACC1nucleus accumbens associated 1 | Very often (80–99%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 1 condition |
| NDNnecdin, MAGE family member | Very often (80–99%) | In 4 conditions |
| NPAP1nuclear pore associated protein 1 | Very often (80–99%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Very often (80–99%) | In 3 conditions |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 2 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 2 conditions |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 2 conditions |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 2 conditions |
| PLXND1plexin D1 | Very often (80–99%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Very often (80–99%) | In 2 conditions |
| PSAT1phosphoserine aminotransferase 1 | Very often (80–99%) | In 1 condition |
| PURApurine rich element binding protein A | Very often (80–99%) | In 2 conditions |
| PWAR1Prader Willi/Angelman region RNA 1 | Very often (80–99%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Very often (80–99%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 3 conditions |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Very often (80–99%) | In 1 condition |
| RNF6ring finger protein 6 | Very often (80–99%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Very often (80–99%) | In 2 conditions |
| SEMA3Esemaphorin 3E | Very often (80–99%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Very often (80–99%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Very often (80–99%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Very often (80–99%) | In 6 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Very often (80–99%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Very often (80–99%) | In 1 condition |
| AAASaladin WD repeat nucleoporin | Often (30–79%) | In 1 condition |
| ABAT4-aminobutyrate aminotransferase | Often (30–79%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ARHGAP29Rho GTPase activating protein 29 | Often (30–79%) | In 1 condition |
| ARHGEF38Rho guanine nucleotide exchange factor 38 | Often (30–79%) | In 1 condition |
| ARL13BARF like GTPase 13B | Often (30–79%) | In 1 condition |
| ARL3ARF like GTPase 3 | Often (30–79%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Often (30–79%) | In 1 condition |
| ATP10AATPase phospholipid transporting 10A (putative) | Often (30–79%) | In 1 condition |
| AUTS2activator of transcription and developmental regulator AUTS2 | Often (30–79%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Often (30–79%) | In 2 conditions |
| B9D1B9 domain containing 1 | Often (30–79%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 1 condition |
| BMP4bone morphogenetic protein 4 | Often (30–79%) | In 1 condition |
| BOLA3bolA family member 3 | Often (30–79%) | In 1 condition |
| BRD4bromodomain containing 4 | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CASZ1castor zinc finger 1 | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CBY1chibby 1, beta catenin antagonist | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CDH1cadherin 1 | Often (30–79%) | In 1 condition |
| CEP104centrosomal protein 104 | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 2 conditions |
| CEP41centrosomal protein 41 | Often (30–79%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Often (30–79%) | In 1 condition |
| COBLL1cordon-bleu WH2 repeat protein like 1 | Often (30–79%) | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Often (30–79%) | In 2 conditions |
| CPT2carnitine palmitoyltransferase 2 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| DDCdopa decarboxylase | Often (30–79%) | In 1 condition |
| DLG1discs large MAGUK scaffold protein 1 | Often (30–79%) | In 1 condition |
| DLX4distal-less homeobox 4 | Often (30–79%) | In 1 condition |
| DUOX2dual oxidase 2 | Often (30–79%) | In 1 condition |
| DUOXA2dual oxidase maturation factor 2 | Often (30–79%) | In 1 condition |
| EIF4A3eukaryotic translation initiation factor 4A3 | Often (30–79%) | In 1 condition |
| EIF5Aeukaryotic translation initiation factor 5A | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Often (30–79%) | In 1 condition |
| FHfumarate hydratase | Often (30–79%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Often (30–79%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Often (30–79%) | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 1 condition |
| GMPPAGDP-mannose pyrophosphorylase A | Often (30–79%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Often (30–79%) | In 1 condition |
| GRHL3grainyhead like transcription factor 3 | Often (30–79%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Often (30–79%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Often (30–79%) | In 1 condition |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Often (30–79%) | In 1 condition |
| HDAC8histone deacetylase 8 | Often (30–79%) | In 2 conditions |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 2 conditions |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Often (30–79%) | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Often (30–79%) | In 2 conditions |
| IRF6interferon regulatory factor 6 | Often (30–79%) | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| IYDiodotyrosine deiodinase | Often (30–79%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Often (30–79%) | In 1 condition |
| KAT8lysine acetyltransferase 8 | Often (30–79%) | In 1 condition |
| KATNIPkatanin interacting protein | Often (30–79%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Often (30–79%) | In 1 condition |
| KDM3Blysine demethylase 3B | Often (30–79%) | In 1 condition |
| KIAA0586KIAA0586 | Often (30–79%) | In 1 condition |
| KIAA0753KIAA0753 | Often (30–79%) | In 3 conditions |
| KIF15kinesin family member 15 | Often (30–79%) | In 1 condition |
| KIF7kinesin family member 7 | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Often (30–79%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Often (30–79%) | In 1 condition |
| MSX1msh homeobox 1 | Often (30–79%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 1 condition |
| MTM1myotubularin 1 | Often (30–79%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Often (30–79%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Often (30–79%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 3 conditions |
| OTUD5OTU deubiquitinase 5 | Often (30–79%) | In 1 condition |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Often (30–79%) | In 2 conditions |
| PDGFRAplatelet derived growth factor receptor alpha | Often (30–79%) | In 1 condition |
| PDPNpodoplanin | Often (30–79%) | In 1 condition |
| PHF6PHD finger protein 6 | Often (30–79%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 1 condition |
| PIBF1progesterone immunomodulatory binding factor 1 | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PRKCZprotein kinase C zeta | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 2 conditions |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Often (30–79%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Often (30–79%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 1 condition |
| RIC1RIC1 partner of RAB6A GEF complex | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Often (30–79%) | In 1 condition |
| RRASRAS related | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 2 conditions |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SATB2SATB homeobox 2 | Often (30–79%) | In 2 conditions |
| SKISKI proto-oncogene | Often (30–79%) | In 2 conditions |
| SLC16A2solute carrier family 16 member 2 | Often (30–79%) | In 2 conditions |
| SLC5A5solute carrier family 5 member 5 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 2 conditions |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Often (30–79%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 1 condition |
| SPENspen family transcriptional repressor | Often (30–79%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| SRP54signal recognition particle 54 | Often (30–79%) | In 1 condition |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Often (30–79%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Often (30–79%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TCTN1tectonic family member 1 | Often (30–79%) | In 1 condition |
| TCTN2tectonic family member 2 | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 2 conditions |
| TET3tet methylcytosine dioxygenase 3 | Often (30–79%) | In 1 condition |
| TGthyroglobulin | Often (30–79%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM218transmembrane protein 218 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 2 conditions |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Often (30–79%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Often (30–79%) | In 1 condition |
| TP63tumor protein p63 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 1 condition |
| TPOthyroid peroxidase | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Often (30–79%) | In 2 conditions |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Often (30–79%) | In 1 condition |
| UBBubiquitin B | Often (30–79%) | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Often (30–79%) | In 2 conditions |
| UBE4Bubiquitination factor E4B | Often (30–79%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Often (30–79%) | In 1 condition |
| VPS13Bvacuolar protein sorting 13 homolog B | Often (30–79%) | In 2 conditions |
| WDR26WD repeat domain 26 | Often (30–79%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 1 condition |
| YY1YY1 transcription factor | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 2 conditions |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sometimes (5–29%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ARSAarylsulfatase A | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CLCN1chloride voltage-gated channel 1 | Sometimes (5–29%) | In 1 condition |
| CLEC7AC-type lectin domain containing 7A | Sometimes (5–29%) | In 1 condition |
| CNOT3CCR4-NOT transcription complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| DCXdoublecortin | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sometimes (5–29%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GTPBP3GTP binding protein 3, mitochondrial | Sometimes (5–29%) | In 1 condition |
| HADHhydroxyacyl-CoA dehydrogenase | Sometimes (5–29%) | In 2 conditions |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Sometimes (5–29%) | In 1 condition |
| IL17Finterleukin 17F | Sometimes (5–29%) | In 1 condition |
| IL17RAinterleukin 17 receptor A | Sometimes (5–29%) | In 1 condition |
| IL17RCinterleukin 17 receptor C | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Sometimes (5–29%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NFKBIANFKB inhibitor alpha | Sometimes (5–29%) | In 1 condition |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| PRKCSHPRKCSH beta subunit of glucosidase II | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Sometimes (5–29%) | In 1 condition |
| RPL10ribosomal protein L10 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SCNN1Asodium channel epithelial 1 subunit alpha | Sometimes (5–29%) | In 2 conditions |
| SCNN1Bsodium channel epithelial 1 subunit beta | Sometimes (5–29%) | In 1 condition |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Sometimes (5–29%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sometimes (5–29%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SEC63SEC63 protein translocation regulator | Sometimes (5–29%) | In 1 condition |
| SH3BP2SH3 domain binding protein 2 | Sometimes (5–29%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 1 condition |
| TRAF3IP2TRAF3 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Sometimes (5–29%) | In 1 condition |
| TTC21Btetratricopeptide repeat domain 21B | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| WDR19WD repeat domain 19 | Sometimes (5–29%) | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 1 condition |
| AQP2aquaporin 2 | Not recorded | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ASLargininosuccinate lyase | Not recorded | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Not recorded | In 1 condition |
| AVPR2arginine vasopressin receptor 2 | Not recorded | In 1 condition |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| BIN1bridging integrator 1 | Not recorded | In 1 condition |
| BTDbiotinidase | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| CASRcalcium sensing receptor | Not recorded | In 1 condition |
| CDK8cyclin dependent kinase 8 | Not recorded | In 1 condition |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Not recorded | In 1 condition |
| CLDN16claudin 16 | Not recorded | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Not recorded | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DMPKDM1 protein kinase | Not recorded | In 1 condition |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| KIF1Akinesin family member 1A | Not recorded | In 1 condition |
| LAMA2laminin subunit alpha 2 | Not recorded | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Not recorded | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Not recorded | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMABmetabolism of cobalamin associated B | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Not recorded | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Not recorded | In 1 condition |
| PANK2pantothenate kinase 2 | Not recorded | In 1 condition |
| PAX8paired box 8 | Not recorded | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PMM2phosphomannomutase 2 | Not recorded | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| RETREG1reticulophagy regulator 1 | Not recorded | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Not recorded | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Not recorded | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Not recorded | In 1 condition |
| SLC46A1solute carrier family 46 member 1 | Not recorded | In 1 condition |
| SLC6A8solute carrier family 6 member 8 | Not recorded | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Not recorded | In 1 condition |
| TRAPPC4trafficking protein particle complex subunit 4 | Not recorded | In 1 condition |
| TREX1three prime repair exonuclease 1 | Not recorded | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Not recorded | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| TXNL4Athioredoxin like 4A | Not recorded | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Not recorded | In 1 condition |
| WNK1WNK lysine deficient protein kinase 1 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Not recorded | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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