abnormality of reproductive system physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal functionality of the genital system. (Human Phenotype Ontology, HP_0000080)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000080
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Genes

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

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
AR androgen receptor
ARL6 ADP-ribosylation factor-like 6
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
AURKC aurora kinase C
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLM Bloom syndrome, RecQ helicase-like
BMP15 bone morphogenetic protein 15
BMP4 bone morphogenetic protein 4
BMPR1B bone morphogenetic protein receptor, type IB
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C21ORF59 chromosome 21 open reading frame 59
CATSPER1 cation channel, sperm associated 1
CATSPER2 cation channel, sperm associated 2
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC8 coiled-coil domain containing 8
CCNO cyclin O
CEP290 centrosomal protein 290kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CLIP2 CAP-GLY domain containing linker protein 2
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL7A1 collagen, type VII, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
CUL7 cullin 7
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DAZ1 deleted in azoospermia 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCAF17 DDB1 and CUL4 associated factor 17
DMPK dystrophia myotonica-protein kinase
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAAF5 dynein, axonemal, assembly factor 5
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DUSP6 dual specificity phosphatase 6
DYX1C1 dyslexia susceptibility 1 candidate 1
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC8 excision repair cross-complementation group 8
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOXL2 forkhead box L2
FSHR follicle stimulating hormone receptor
GALT galactose-1-phosphate uridylyltransferase
GBA2 glucosidase, beta (bile acid) 2
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GOPC golgi-associated PDZ and coiled-coil motif containing
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
IER3IP1 immediate early response 3 interacting protein 1
IFT27 intraflagellar transport 27
IL17RD interleukin 17 receptor D
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KLHL10 kelch-like family member 10
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LMNB1 lamin B1
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPLKIP M-phase specific PLK1 interacting protein
NANOS1 nanos homolog 1 (Drosophila)
NDN necdin, melanoma antigen (MAGE) family member
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PCSK1 proprotein convertase subtilisin/kexin type 1
PGR progesterone receptor
PMM2 phosphomannomutase 2
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRLR prolactin receptor
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PSMC3IP PSMC3 interacting protein
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM28 RNA binding motif protein 28
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RNF216 ring finger protein 216
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
SCP2 sterol carrier protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPT12 septin 12
SIL1 SIL1 nucleotide exchange factor
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPATA16 spermatogenesis associated 16
SPRY4 sprouty homolog 4 (Drosophila)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
STEAP3 STEAP family member 3, metalloreductase
STRC stereocilin
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SYCP3 synaptonemal complex protein 3
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TAF4B TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa
TBL2 transducin (beta)-like 2
TBX3 T-box 3
TFR2 transferrin receptor 2
THOC6 THO complex 6
TNXB tenascin XB
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
TTR transthyretin
USP9Y ubiquitin specific peptidase 9, Y-linked
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WRN Werner syndrome, RecQ helicase-like
ZMYND10 zinc finger, MYND-type containing 10
ZMYND15 zinc finger, MYND-type containing 15
ZP1 zona pellucida glycoprotein 1 (sperm receptor)