Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
3293 | HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | |
3897 | L1CAM | L1 cell adhesion molecule | |
4594 | MMUT | methylmalonyl-CoA mutase | |
4907 | NT5E | 5'-nucleotidase ecto | |
5373 | PMM2 | phosphomannomutase 2 | |
6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
6646 | SOAT1 | sterol O-acyltransferase 1 | |
8482 | SEMA7A | semaphorin 7A (JohnMiltonHagen blood group) | |
9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
10908 | PNPLA6 | patatin like phospholipase domain containing 6 |
UniProt ID | Protein Name | Source |
---|---|---|
O15305 | Phosphomannomutase 2 | |
O60243 | Heparan-sulfate 6-O-sulfotransferase 1 | |
O75326 | Semaphorin-7A | |
P05093 | Steroid 17-alpha-hydroxylase/17,20 lyase | |
P08174 | Complement decay-accelerating factor | |
P08842 | Steryl-sulfatase | |
P11766 | Alcohol dehydrogenase class-3 | |
P16070 | CD44 antigen | |
P19971 | Thymidine phosphorylase | |
P21589 | 5'-nucleotidase |
HPO ID | HPO Term |
---|---|
HP:0000002 | Abnormality of body height |
HP:0000008 | Abnormal morphology of female internal genitalia |
HP:0000013 | Hypoplasia of the uterus |
HP:0000026 | Male hypogonadism |
HP:0000027 | Azoospermia |
HP:0000028 | Cryptorchidism |
HP:0000044 | Hypogonadotropic hypogonadism |
HP:0000054 | Micropenis |
HP:0000104 | Renal agenesis |
HP:0000118 | Phenotypic abnormality |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024