OMIM References: Difference between revisions
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | ||
=== | ===Spermatozoa Motility=== | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | ||
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* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | ||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1] | * [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1] | ||
===Spermatozoa=== | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182878 OUTER DENSE FIBER OF SPERM TAILS 1; ODF1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602015 OUTER DENSE FIBER OF SPERM TAILS 2; ODF2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600930 SPERM ADHESION MOLECULE 1; SPAM1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182889 ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182882 SPERM PROTAMINE P4; PRM4] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182880 SPERM PROTAMINE P1; PRM1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125880 DIAPHORASE 3; DIA3] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603395 SPERM-ASSOCIATED ANTIGEN 1; SPAG1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182888 ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603038 SPERM-ASSOCIATED ANTIGEN 4; SPAG4] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603185 NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182879 SPERM MEMBRANE PROTEIN] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131375 ENOLASE, SPERM SPECIFIC; ENO4] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602862 UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182890 SPERM PROTAMINE P2; PRM2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=182610 SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=244400 KARTAGENER SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601050 ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=160900 DYSTROPHIA MYOTONICA; DMPK] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143100 HUNTINGTON DISEASE; HD] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601533 FERTILIN, BETA; FTNB] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=150150 LACTATE DEHYDROGENASE-C; LDHC] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=106180 DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=143890 HYPERCHOLESTEROLEMIA, FAMILIAL; FHC] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601193 ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313700 ANDROGEN RECEPTOR; AR] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601858 CALMEGIN; CLGN] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242650 IMMOTILE CILIA SYNDROME 1; ICS1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=168450 PARATHYROID HORMONE; PTH] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601148 MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102530 ACROSOME MALFORMATION OF SPERMATOZOA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=264600 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107730 APOLIPOPROTEIN B; APOB] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=195000 ZONA PELLUCIDA GLYCOPROTEIN 1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=164400 SPINOCEREBELLAR ATAXIA 1; SCA1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601294 SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120150 COLLAGEN, TYPE I, ALPHA-1; COL1A1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276900 USHER SYNDROME, TYPE IA; USH1A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118990 CLEAVAGE SIGNAL-1 PROTEIN; CS1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602889 A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=279000 YOUNG SYNDROME] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603121 CYLICIN 1; CYCL1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114480 CANCER OF THE BREAST, FAMILIAL; BCS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200 MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602692 GLIOMA PATHOGENESIS-RELATED PROTEIN] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602974 AQUAPORIN 7; AQP7] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102480 ACROSIN; ACR] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120160 COLLAGEN, TYPE I, ALPHA-2; COL1A2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=201910 ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=187430 TESTIS-SPECIFIC PROTEIN 1; TPX1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=191135 TUBULIN, GAMMA; TUBG] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243060 INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=229300 FRIEDREICH ATAXIA 1; FRDA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180200 RETINOBLASTOMA; RB1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=185430 CLUSTERIN; CLU] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176910 PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=174800 MCCUNE-ALBRIGHT SYNDROME; MAS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=173310 PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193450 VULVOVAGINITIS, ALLERGIC SEMINAL] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=172270 PHOSPHOGLYCERATE KINASE 2; PGK2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=195002 ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123812 CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=100800 ACHONDROPLASIA; ACH] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312610 RETINITIS PIGMENTOSA 3; RP3] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602574 TECTORIN, ALPHA; TECTA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=228300 FERTILE EUNUCH] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=603495 SERINE/THREONINE PROTEIN KINASE 13; STK13] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=231090 GESTATIONAL TROPHOBLASTIC DISEASE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=312600 RETINITIS PIGMENTOSA 2; RP2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=242670 IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253300 SPINAL MUSCULAR ATROPHY I; SMA1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=305700 GERMINAL CELL APLASIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600499 ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602653 TECTORIN, BETA; TECTB] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208900 ATAXIA-TELANGIECTASIA; AT] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=193400 VON WILLEBRAND DISEASE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190232 TRANSITION PROTEIN 2; TNP2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=190231 TRANSITION PROTEIN 1; TNP1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276903 MYOSIN VIIA; MYO7A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=177170 PSEUDOACHONDROPLASTIC DYSPLASIA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300058 PEM HOMEO BOX GENE, HUMAN HOMOLOG OF] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300154 EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306700 HEMOPHILIA A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=306900 HEMOPHILIA B; HEMB] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176410 PRECOCIOUS PUBERTY, MALE-LIMITED] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176270 PRADER-WILLI SYNDROME; PWS] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176943 FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215520 CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=155120 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=480000 SEX-DETERMINING REGION Y; SRY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=215518 CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300144 GLUTAMATE DEHYDROGENASE 2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600185 BREAST CANCER 2, EARLY-ONSET; BRCA2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600053 CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600743 TRANSCRIPTION FACTOR AP4; TFAP4] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600750 PENTRAXIN II, NEURONAL; NPTX2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=152790 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147460 SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142800 MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142709 H1 HISTONE FAMILY, MEMBER 1; H1F1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=142550 HEXOKINASE OF SPERMATOZOA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601492 HYALURONIDASE DEFICIENCY] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601517 ATAXIN 2; ATX2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=140560 HEAT-SHOCK 70-KD PROTEIN 2; HSPA2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601663 ESTROGEN RECEPTOR 2; ESR2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=137010 F9 EMBRYONIC ANTIGEN; FEA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=136435 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602073 A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602372 ZONADHESIN; ZAN] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600040 BCL2-ASSOCIATED X PROTEIN; BAX] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=131530 EPIDERMAL GROWTH FACTOR; EGF] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=130500 ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=125870 DIAPHORASE 2; DIA2] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117139 CENTROMERIC PROTEIN A; CENPA] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=116896 CUT-LIKE, 1; CUTL1] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=114107 PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=103280 ADULT SKELETAL MUSCLE GENE] | |||
* [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700 CYSTIC FIBROSIS; CF] | |||
== 1999 OMIM Pages == | == 1999 OMIM Pages == | ||
Revision as of 10:44, 23 March 2010
Introduction
There are many different Online Mendelian Inheritence in Man (OMIM) reference materials used in UNSW Embryology. Selected OMIM references can also be found on the Abnormalities (page 2) of each section of Notes and there are also search buttons that will perform searches using specific term(s) of external databases. Some search results will allow access to the full original document, while others may require a Journal subscription to access the full document.
Students when referencing specific materials should as much as possible cite the original Research article and not Review articles. When wanting to give a broad overview or summaries of the field, the Review articles should be cited (and indicated as "reviews"). Students should also avoid direct text cut and paste and if absolutely necessary should place in "quotation marks" citing the original reference.
About OMIM "Online Mendelian Inheritance in Man OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 12,000 genes. OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources." OMIM
Links: OMIM | Citing OMIM?
2010 OMIM Pages by Developmental Topic
Week 1
- GLOBOZOOSPERMIA Acrosome Malformation of Spermatoza
- Zona Pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-inactivation-specific Transcript: Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Fertilization
- SPERM-SPECIFIC ANTIGEN 1; SSFA1 FERTILIZATION ANTIGEN 1
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- ZONA PELLUCIDA GLYCOPROTEIN 1
- APOLIPOPROTEIN B; APOB
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- ACROSOME MALFORMATION OF SPERMATOZOA
- FERTILIN, BETA; FTNB
- TUBULIN, GAMMA; TUBG
- KARTAGENER SYNDROME
- HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1
- PROLACTIN RECEPTOR; PRLR
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
Spermatozoa Motility
- KARTAGENER SYNDROME
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- DYSTROPHIA MYOTONICA; DMPK
- IMMOTILE CILIA SYNDROME 1; ICS1
- APOLIPOPROTEIN B; APOB
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- USHER SYNDROME, TYPE IA; USH1A
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- SPINAL MUSCULAR ATROPHY I; SMA1
Spermatozoa
- OUTER DENSE FIBER OF SPERM TAILS 1; ODF1
- OUTER DENSE FIBER OF SPERM TAILS 2; ODF2
- SPERM ADHESION MOLECULE 1; SPAM1
- ZONA PELLUCIDA GLYCOPROTEIN 3A; ZP3A
- SPERM PROTAMINE P4; PRM4
- SPERM PROTAMINE P1; PRM1
- DIAPHORASE 3; DIA3
- SPERM-ASSOCIATED ANTIGEN 1; SPAG1
- ZONA PELLUCIDA GLYCOPROTEIN 2; ZP2
- SPERM-ASSOCIATED ANTIGEN 4; SPAG4
- NUCLEAR AUTOANTIGENIC SPERM PROTEIN; NASP
- SPERM MEMBRANE PROTEIN
- ENOLASE, SPERM SPECIFIC; ENO4
- UDP-N-ACETYLGLUCOSAMINE PYROPHOSPHORYLASE 1; UAP1
- SPERM PROTAMINE P2; PRM2
- SPASTIC PARAPLEGIA, EPILEPSY, AND MENTAL RETARDATION; SPERM
- KARTAGENER SYNDROME
- ZONA PELLUCIDA RECEPTOR TYROSINE KINASE, 95-KD; ZRK
- DYSTROPHIA MYOTONICA; DMPK
- HUNTINGTON DISEASE; HD
- FERTILIN, BETA; FTNB
- LACTATE DEHYDROGENASE-C; LDHC
- DIPEPTIDYL CARBOXYPEPTIDASE 1; DCP1
- HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
- FRAGILE SITE MENTAL RETARDATION 1; FMR1
- ACIDIC EPIDIDYMAL GLYCOPROTEIN-LIKE 1; AEGL1
- ANDROGEN RECEPTOR; AR
- CALMEGIN; CLGN
- IMMOTILE CILIA SYNDROME 1; ICS1
- PARATHYROID HORMONE; PTH
- MITOCHONDRIAL CAPSULE SELENOPROTEIN; MCSP
- ACROSOME MALFORMATION OF SPERMATOZOA
- PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
- APOLIPOPROTEIN B; APOB
- ZONA PELLUCIDA GLYCOPROTEIN 1
- SPINOCEREBELLAR ATAXIA 1; SCA1
- SOLUTE CARRIER FAMILY 6, MEMBER 10; SLC6A10
- COLLAGEN, TYPE I, ALPHA-1; COL1A1
- USHER SYNDROME, TYPE IA; USH1A
- CLEAVAGE SIGNAL-1 PROTEIN; CS1
- A DISINTEGRIN AND METALLOPROTEASE DOMAIN 3A; ADAM3A
- YOUNG SYNDROME
- VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF; CBAVD
- CYLICIN 1; CYCL1
- CANCER OF THE BREAST, FAMILIAL; BCS
- MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE AND BECKER TYPES
- GLIOMA PATHOGENESIS-RELATED PROTEIN
- AQUAPORIN 7; AQP7
- ACROSIN; ACR
- COLLAGEN, TYPE I, ALPHA-2; COL1A2
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY
- TESTIS-SPECIFIC PROTEIN 1; TPX1
- TUBULIN, GAMMA; TUBG
- INFERTILITY ASSOCIATED WITH MULTI-TAILED SPERMATOZOA AND EXCESSIVE DNA
- FRIEDREICH ATAXIA 1; FRDA
- RETINOBLASTOMA; RB1
- CLUSTERIN; CLU
- PROTEIN KINASE, cAMP-DEPENDENT, REGULATORY, TYPE II, ALPHA; PRKAR2A
- MCCUNE-ALBRIGHT SYNDROME; MAS
- PROGESTAGEN-ASSOCIATED ENDOMETRIAL PROTEIN; PAEP
- VULVOVAGINITIS, ALLERGIC SEMINAL
- PHOSPHOGLYCERATE KINASE 2; PGK2
- ZONA PELLUCIDA GLYCOPROTEIN 3B; ZP3B
- CYCLIC AMP RESPONSE ELEMENT MODULATOR; CREM
- ACHONDROPLASIA; ACH
- RETINITIS PIGMENTOSA 3; RP3
- TECTORIN, ALPHA; TECTA
- FERTILE EUNUCH
- SERINE/THREONINE PROTEIN KINASE 13; STK13
- GESTATIONAL TROPHOBLASTIC DISEASE
- RETINITIS PIGMENTOSA 2; RP2
- IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES
- SPINAL MUSCULAR ATROPHY I; SMA1
- GERMINAL CELL APLASIA
- ACIDIC EPIDIDYMAL GLYCOPROTEIN; AEG
- TECTORIN, BETA; TECTB
- ATAXIA-TELANGIECTASIA; AT
- VON WILLEBRAND DISEASE
- TRANSITION PROTEIN 2; TNP2
- TRANSITION PROTEIN 1; TNP1
- MYOSIN VIIA; MYO7A
- PSEUDOACHONDROPLASTIC DYSPLASIA
- PEM HOMEO BOX GENE, HUMAN HOMOLOG OF
- EXTRAEMBRYONIC, SPERMATOGENESIS, HOMEO BOX 1, MOUSE, HOMOLOG OF
- HEMOPHILIA A
- HEMOPHILIA B; HEMB
- PRECOCIOUS PUBERTY, MALE-LIMITED
- PRADER-WILLI SYNDROME; PWS
- FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2
- CILIARY DYSKINESIA DUE TO TRANSPOSITION OF CILIARY MICROTUBULES
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 11; ADAM11
- SEX-DETERMINING REGION Y; SRY
- CILIARY DISCOORDINATION DUE TO RANDOM CILIARY ORIENTATION
- GLUTAMATE DEHYDROGENASE 2
- BREAST CANCER 2, EARLY-ONSET; BRCA2
- CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CNGA3
- TRANSCRIPTION FACTOR AP4; TFAP4
- PENTRAXIN II, NEURONAL; NPTX2
- LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR
- SUPEROXIDE DISMUTASE 2, MITOCHONDRIAL; SOD2
- MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS I, A; HLA-A
- H1 HISTONE FAMILY, MEMBER 1; H1F1
- HEXOKINASE OF SPERMATOZOA
- HYALURONIDASE DEFICIENCY
- ATAXIN 2; ATX2
- HEAT-SHOCK 70-KD PROTEIN 2; HSPA2
- ESTROGEN RECEPTOR 2; ESR2
- F9 EMBRYONIC ANTIGEN; FEA
- FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
- A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 3B; ADAM3B
- ZONADHESIN; ZAN
- FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
- BCL2-ASSOCIATED X PROTEIN; BAX
- EPIDERMAL GROWTH FACTOR; EGF
- ERYTHROCYTE MEMBRANE PROTEIN BAND 4.1; EPB41
- DIAPHORASE 2; DIA2
- CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
- CENTROMERIC PROTEIN A; CENPA
- CUT-LIKE, 1; CUTL1
- PROTEIN PHOSPHATASE 3, CATALYTIC SUBUNIT, GAMMA ISOFORM; PPP3CC
- ADULT SKELETAL MUSCLE GENE
- CYSTIC FIBROSIS; CF
1999 OMIM Pages
In 1999 I searched the Online Mendelian Inheritence in Man (OMIM) database and selected a small number of references for each topic. These earlier searches are now slightly out of date, but should still be a good starting point for those interested in the topics.
These pages retain the original earlier site (Version 3) page layout.
Week 1
- Fertilization- List Select
- Sperm List- Select
- Sperm Motility List- Select
- Acrosome Malformation of Spermatoza
- Zona Pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-inactivation-specific Transcript: Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Fertilization
- Fertilization List- Select
- Sperm List-Select
- Sperm Motility List- Select
- Acrosome Malformation of Spermatoza
- Zona pellucida Glycoprotein 2; ZP2
- Zona Pellucida Glycoprotein 3A; ZP3A
- X-Inactivation-Specific Transcript; Xist
- Zona Pellucida Receptor Tyrosine Kinase, 95-KD; ZRK
Week 2
Week 3
Abnormal Development
Neural
Cardiovascular
- Tetralogy of Fallot List- Select
- Patent Ductus Arteriosus List- Select
- Heart List-Select
- Atrial Septal Defect List- Select
- Atrial Septal Defect
- Patent Ductus Arteriosus
- Tetralogy of Fallot
- Bundle Branch Block
Musculoskeletal
- Dystrophin-Associated Glycoprotein1; DAG1
- Hip, Dislocation of, Congenital
- Syndactyly, Type I
- Syndactyly, Type II
- Syndactyly, Type III
- Syndactyly, Type IV
- Syndactyly, Type V
- Myotonic Dystrophy
- Arthrogryposis Syndrome List- Select
- Muscular Dystrophy List- Select
- Congenital Dystrophy List- Select
- Scoliosis List- Select
- Syndactly List- Select
Gastrointestinal
- Hirschsprung Disease
- Volvulus of Midgut
- Hirschsprung Disease 2
- Gastrointestinal Abnormalities Multiple
- Select Entries
Head and Neck
- Orofacial Cleft 1; OFC1
- Ear Malformation
- Pierre Robin Syndrome and Oligodactyly
- Pierre Robin Syndrome
- Pierre Robin Syndrome with Congenital Heart Malformation and Clubfoot
- Cleft Lip List- Select
- Pierre Robin Syndrome List- Select
Coelomic Cavity
Respiratory
- Lung List- Select
- Emphysema, Congenital Lobar; CLE
- Oculodigitoesophagoduodenal Syndrome
- Tracheoesophageal Fistula
Neural Crest
Senses
Urogenital
Kidney
- Prune Belly Syndrome
- Multicystic Renal Dysplasia
- Polycystic Kidneys
- Urogenital Adysplasia
- Wilms Tumor 1
- Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation and Deafness
- Exstrophy of Bladder
Gonad
- Sex Reversal, Autosomal, 2; SRA2
- Cryptorchidism
- XX Male Syndrome
- Gonadal Dysgenesis, XY Female Type; GDXY
- Gonadoblastoma; GBY
- Ovarian Germ Cell Cancer
- Gonad List- Select
